| Year |
Citation |
Score |
| 2020 |
Hasan Ali O, Yurchenko AA, Pavlova O, Sartori A, Bomze D, Higgins R, Ring SS, Hartmann F, Bühler D, Fritzsche FR, Jochum W, Navarini AA, Kim A, French LE, Dermitzakis E, ... Christiano AM, et al. Genomic profiling of late-onset basal cell carcinomas from two brothers with Naevoid Basal Cell Carcinoma Syndrome. Journal of the European Academy of Dermatology and Venereology : Jeadv. PMID 32564428 DOI: 10.1111/Jdv.16767 |
0.319 |
|
| 2020 |
Vonica A, Bhat N, Phan K, Guo J, Iancu L, Weber JA, Karger A, Cain JW, Wang ECE, DeStefano GM, O'Donnell-Luria AH, Christiano AM, Riley B, Butler SJ, Luria V. Apcdd1 is a dual BMP/Wnt inhibitor in the developing nervous system and skin. Developmental Biology. PMID 32320685 DOI: 10.1016/J.Ydbio.2020.03.015 |
0.701 |
|
| 2020 |
Shin JU, Abaci HE, Herron L, Guo Z, Sallee B, Pappalardo A, Jackow J, Wang EHC, Doucet Y, Christiano AM. Recapitulating T cell infiltration in 3D psoriatic skin models for patient-specific drug testing. Scientific Reports. 10: 4123. PMID 32139717 DOI: 10.1038/S41598-020-60275-0 |
0.313 |
|
| 2020 |
Erjavec SO, Gelfman S, Abdelaziz AR, Lee EY, Petukhova L, Christiano A. 301 Whole exome sequencing in AA patients identifies a hotspot mutation in the type II hair keratin gene, KRT82 Journal of Investigative Dermatology. 140. DOI: 10.1016/J.Jid.2020.03.307 |
0.398 |
|
| 2019 |
Jacków J, Guo Z, Hansen C, Abaci HE, Doucet YS, Shin JU, Hayashi R, DeLorenzo D, Kabata Y, Shinkuma S, Salas-Alanis JC, Christiano AM. CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells. Proceedings of the National Academy of Sciences of the United States of America. PMID 31818947 DOI: 10.1073/Pnas.1907081116 |
0.426 |
|
| 2019 |
Petukhova L, Patel AV, Rigo RK, Bian L, Verbitsky M, Sanna-Cherchi S, Erjavec SO, Abdelaziz AR, Cerise JE, Jabbari A, Christiano AM. Integrative analysis of rare copy number variants and gene expression data in Alopecia Areata implicates an etiological role for autophagy. Experimental Dermatology. PMID 31169925 DOI: 10.1111/Exd.13986 |
0.308 |
|
| 2019 |
Wang E, Sallee B, Chen J, Herron L, Bordone L, Christiano A. 863 Central centrifugal cicatricial alopecia gene expression analysis revealed cholesterol, fatty acid, and mast cell pathways Journal of Investigative Dermatology. 139: S149. DOI: 10.1016/J.Jid.2019.03.939 |
0.316 |
|
| 2019 |
Petukhova L, Erjavec S, Abdelaziz A, Chen W, Gelfman S, Floratos A, Price V, Hordinsky M, Norris D, Duvic M, Ionita-Laza I, Lee A, Amos C, Gregersen P, Christiano A. 393 Rare genetic mutations identify extracellular matrix genes as a contributing factor in alopecia areata etiology Journal of Investigative Dermatology. 139: S68. DOI: 10.1016/J.Jid.2019.03.469 |
0.387 |
|
| 2018 |
Liu J, Higgins CA, Whitehouse JC, Harris SJ, Crawford H, Christiano AM, Lako M, Hole N, Jahoda CAB. Hair Follicle Dermal Cells Support Expansion of Murine and Human Embryonic and Induced Pluripotent Stem Cells and Promote Haematopoiesis in Mouse Cultures. Stem Cells International. 2018: 8631432. PMID 30154866 DOI: 10.1155/2018/8631432 |
0.307 |
|
| 2018 |
Sundberg JP, Hordinsky MK, Bergfeld W, Lenzy YM, McMichael AJ, Christiano AM, McGregor T, Stenn KS, Sivamani RK, Pratt CH, King LE. Cicatricial Alopecia Research Foundation Meeting, May 2016: Progress Towards the Diagnosis, Treatment, and Cure of Primary Cicatricial Alopecias. Experimental Dermatology. PMID 29341265 DOI: 10.1111/Exd.13495 |
0.329 |
|
| 2018 |
Jackow J, Guo Z, Abaci H, Doucet Y, Shin J, Hansen C, Salas J, Christiano A. 798 Biallelic COL7A1 editing in iPSCs via CRISPR/Cas9 for recessive dystrophic epidermolysis bullosa mutations Journal of Investigative Dermatology. 138: S135. DOI: 10.1016/J.Jid.2018.03.808 |
0.374 |
|
| 2018 |
Petukhova L, Chen W, Lee A, Gregersen P, Christiano A. 780 Rare genetic mutations contribute to alopecia areata etiology and provide rationale for sequencing patient genomes Journal of Investigative Dermatology. 138: S132. DOI: 10.1016/J.Jid.2018.03.790 |
0.335 |
|
| 2018 |
Wang E, Wang E, Chen J, Christiano A. 1072 Promotion of hair growth in normal mouse skin and alopecia areata by topical treatment of HDAC inhibitors Journal of Investigative Dermatology. 138: S182. DOI: 10.1016/J.Jid.2018.03.1085 |
0.311 |
|
| 2017 |
Jackow J, Guo Z, Abaci E, Doucet Y, Hansen C, Salas-Alanis J, Christiano A. 190 Biallelic correction of recessive dystrophic epidermolysis bullosa mutations in iPSCs using CRISPR/Cas9- based genome editing Journal of Investigative Dermatology. 137: S225. DOI: 10.1016/J.Jid.2017.07.187 |
0.345 |
|
| 2017 |
Petukhova L, Patel A, Severin R, Bian L, Verbitsky M, Sanna-Cherchi S, Cerise J, Jabbari A, Christiano A. 522 Integrative analysis of gene expression data and rare copy number variants in alopecia areata Journal of Investigative Dermatology. 137: S90. DOI: 10.1016/J.Jid.2017.02.542 |
0.34 |
|
| 2016 |
Wang E, Harel S, Christiano AM. JAK-STAT Signaling Jump Starts the Hair Cycle. The Journal of Investigative Dermatology. 136: 2131-2132. PMID 27772548 DOI: 10.1016/J.Jid.2016.08.029 |
0.301 |
|
| 2016 |
Chen JC, Christiano AM. Out of Many, One: Computational Reconstruction of Mouse Skin using Single-Cell Transcriptomics. Cell Stem Cell. 19: 421-422. PMID 27716520 DOI: 10.1016/J.Stem.2016.09.009 |
0.303 |
|
| 2016 |
Mackay-Wiggan J, Jabbari A, Nguyen N, Cerise JE, Clark C, Ulerio G, Furniss M, Vaughan R, Christiano AM, Clynes R. Oral ruxolitinib induces hair regrowth in patients with moderate-to-severe alopecia areata. Jci Insight. 1: e89790. PMID 27699253 DOI: 10.1172/Jci.Insight.89790 |
0.316 |
|
| 2016 |
Higgins CA, Roger M, Hill R, Ali-Khan AS, Garlick J, Christiano AM, Jahoda CA. Multifaceted role of hair follicle dermal cells in bioengineered skins. The British Journal of Dermatology. PMID 27679975 DOI: 10.1111/Bjd.15087 |
0.303 |
|
| 2016 |
Dai Z, Xing L, Cerise J, Wang EH, Jabbari A, de Jong A, Petukhova L, Christiano AM, Clynes R. CXCR3 Blockade Inhibits T Cell Migration into the Skin and Prevents Development of Alopecia Areata. Journal of Immunology (Baltimore, Md. : 1950). PMID 27412416 DOI: 10.4049/Jimmunol.1501798 |
0.32 |
|
| 2016 |
Jabbari A, Cerise JE, Chen JC, Mackay-Wiggan J, Duvic M, Price V, Hordinsky M, Norris D, Clynes R, Christiano AM. Molecular signatures define alopecia areata subtypes and transcriptional biomarkers. Ebiomedicine. 7: 240-247. PMID 27322477 DOI: 10.1016/J.Ebiom.2016.03.036 |
0.369 |
|
| 2016 |
Fischer J, Degenhardt F, Hofmann A, Redler S, Basmanav FB, Heilmann-Heimbach S, Hanneken S, Giehl KA, Wolff H, Moebus S, Kruse R, Lutz G, Blaumeiser B, Böhm M, Garcia Bartels N, ... ... Christiano AM, et al. Genome-wide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2. Experimental Dermatology. PMID 27306922 DOI: 10.1111/Exd.13123 |
0.36 |
|
| 2016 |
Shinkuma S, Guo Z, Christiano AM. Site-specific genome editing for correction of induced pluripotent stem cells derived from dominant dystrophic epidermolysis bullosa. Proceedings of the National Academy of Sciences of the United States of America. PMID 27143720 DOI: 10.1073/Pnas.1512028113 |
0.432 |
|
| 2016 |
Jabbari A, Cerise J, Chen J, Ulerio G, Sidharthan S, Borbon J, Mackay-Wiggan J, Clynes R, Christiano A. 546 Gene expression signatures and ALADIN score correlates with response of alopecia areata patients to treatment with JAK inhibitors Journal of Investigative Dermatology. 136: S96. DOI: 10.1016/J.Jid.2016.02.584 |
0.305 |
|
| 2015 |
Harel S, Higgins CA, Cerise JE, Dai Z, Chen JC, Clynes R, Christiano AM. Pharmacologic inhibition of JAK-STAT signaling promotes hair growth. Science Advances. 1: e1500973. PMID 26601320 DOI: 10.1126/Sciadv.1500973 |
0.341 |
|
| 2015 |
Gledhill K, Guo Z, Umegaki-Arao N, Higgins CA, Itoh M, Christiano AM. Melanin Transfer in Human 3D Skin Equivalents Generated Exclusively from Induced Pluripotent Stem Cells. Plos One. 10: e0136713. PMID 26308443 DOI: 10.1371/Journal.Pone.0136713 |
0.335 |
|
| 2015 |
Geyer MB, Radhakrishnan K, Giller R, Umegaki N, Harel S, Kiuru M, Morel KD, LeBoeuf N, Kandel J, Bruckner A, Fabricatore S, Chen M, Woodley D, McGrath J, Baxter-Lowe L, ... ... Christiano AM, et al. Reduced Toxicity Conditioning and Allogeneic Hematopoietic Progenitor Cell Transplantation for Recessive Dystrophic Epidermolysis Bullosa. The Journal of Pediatrics. PMID 26148662 DOI: 10.1016/J.Jpeds.2015.05.051 |
0.344 |
|
| 2015 |
Liao Y, Ivanova L, Zhu H, Yahr A, Ayello J, van de Ven C, Rashad A, Uitto J, Christiano AM, Cairo MS. Rescue of the mucocutaneous manifestations by human cord blood derived nonhematopoietic stem cells in a mouse model of recessive dystrophic epidermolysis bullosa. Stem Cells (Dayton, Ohio). 33: 1807-17. PMID 25640200 DOI: 10.1002/Stem.1966 |
0.363 |
|
| 2015 |
Betz RC, Petukhova L, Ripke S, Huang H, Menelaou A, Redler S, Becker T, Heilmann S, Yamany T, Duvic M, Hordinsky M, Norris D, Price VH, Mackay-Wiggan J, de Jong A, ... ... Christiano AM, et al. Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci. Nature Communications. 6: 5966. PMID 25608926 DOI: 10.1038/Ncomms6966 |
0.333 |
|
| 2015 |
Abaci HE, Gledhill K, Guo Z, Christiano AM, Shuler ML. Pumpless microfluidic platform for drug testing on human skin equivalents. Lab On a Chip. 15: 882-8. PMID 25490891 DOI: 10.1039/C4Lc00999A |
0.305 |
|
| 2014 |
Umegaki-Arao N, Pasmooij AM, Itoh M, Cerise JE, Guo Z, Levy B, Gosty?ski A, Rothman LR, Jonkman MF, Christiano AM. Induced pluripotent stem cells from human revertant keratinocytes for the treatment of epidermolysis bullosa. Science Translational Medicine. 6: 264ra164. PMID 25429057 DOI: 10.1126/Scitranslmed.3009342 |
0.467 |
|
| 2014 |
DeStefano GM, Christiano AM. The genetics of human skin disease. Cold Spring Harbor Perspectives in Medicine. 4. PMID 25274756 DOI: 10.1101/Cshperspect.A015172 |
0.356 |
|
| 2014 |
Xing L, Dai Z, Jabbari A, Cerise JE, Higgins CA, Gong W, de Jong A, Harel S, DeStefano GM, Rothman L, Singh P, Petukhova L, Mackay-Wiggan J, Christiano AM, Clynes R. Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition. Nature Medicine. 20: 1043-9. PMID 25129481 DOI: 10.1038/Nm.3645 |
0.313 |
|
| 2014 |
Higgins CA, Petukhova L, Harel S, Ho YY, Drill E, Shapiro L, Wajid M, Christiano AM. FGF5 is a crucial regulator of hair length in humans. Proceedings of the National Academy of Sciences of the United States of America. 111: 10648-53. PMID 24989505 DOI: 10.1073/Pnas.1402862111 |
0.38 |
|
| 2014 |
DeStefano GM, Kurban M, Anyane-Yeboa K, Dall'Armi C, Di Paolo G, Feenstra H, Silverberg N, Rohena L, López-Cepeda LD, Jobanputra V, Fantauzzo KA, Kiuru M, Tadin-Strapps M, Sobrino A, Vitebsky A, ... ... Christiano AM, et al. Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth. Plos Genetics. 10: e1004333. PMID 24831815 DOI: 10.1371/Journal.Pgen.1004333 |
0.812 |
|
| 2014 |
Yesudian PD, Cabral RM, Ladusans E, Spinty S, Gibbs J, Fryer A, Christiano AM, Mendelsohn SS. Novel compound heterozygous mutations in the desmoplakin gene cause hair shaft abnormalities and culminate in lethal cardiomyopathy Clinical and Experimental Dermatology. 39: 506-508. PMID 24825141 DOI: 10.1111/Ced.12329 |
0.373 |
|
| 2014 |
Xu J, Weng Z, Arumugam A, Tang X, Chaudhary SC, Li C, Christiano AM, Elmets CA, Bickers DR, Athar M. Hair follicle disruption facilitates pathogenesis to UVB-induced cutaneous inflammation and basal cell carcinoma development in Ptch(+/-) mice. The American Journal of Pathology. 184: 1529-40. PMID 24631180 DOI: 10.1016/J.Ajpath.2014.01.013 |
0.318 |
|
| 2014 |
Liu L, Kim H, Casta A, Kobayashi Y, Shapiro LS, Christiano AM. Hairless is a histone H3K9 demethylase. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 28: 1534-42. PMID 24334705 DOI: 10.1096/Fj.13-237677 |
0.351 |
|
| 2013 |
Itoh M, Umegaki-Arao N, Guo Z, Liu L, Higgins CA, Christiano AM. Generation of 3D skin equivalents fully reconstituted from human induced pluripotent stem cells (iPSCs). Plos One. 8: e77673. PMID 24147053 DOI: 10.1371/Journal.Pone.0077673 |
0.381 |
|
| 2013 |
Higgins CA, Chen JC, Cerise JE, Jahoda CA, Christiano AM. Microenvironmental reprogramming by three-dimensional culture enables dermal papilla cells to induce de novo human hair-follicle growth. Proceedings of the National Academy of Sciences of the United States of America. 110: 19679-88. PMID 24145441 DOI: 10.1073/Pnas.1309970110 |
0.356 |
|
| 2013 |
Luke CT, Casta A, Kim H, Christiano AM. Hairless and the polyamine putrescine form a negative regulatory loop in the epidermis. Experimental Dermatology. 22: 644-9. PMID 24079733 DOI: 10.1111/Exd.12228 |
0.403 |
|
| 2013 |
Cabral RM, Kurban M, Rothman L, Wajid M, Shimomura Y, Petukhova L, Christiano AM. Autosomal recessive gingival hyperplasia and dental anomalies caused by a 29-base pair duplication in the FAM20A gene. Journal of Human Genetics. 58: 566-7. PMID 23697977 DOI: 10.1038/Jhg.2013.44 |
0.383 |
|
| 2013 |
DeStefano GM, Fantauzzo KA, Petukhova L, Kurban M, Tadin-Strapps M, Levy B, Warburton D, Cirulli ET, Han Y, Sun X, Shen Y, Shirazi M, Jobanputra V, Cepeda-Valdes R, Cesar Salas-Alanis J, ... Christiano AM, et al. Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis. Proceedings of the National Academy of Sciences of the United States of America. 110: 7790-5. PMID 23603273 DOI: 10.1073/Pnas.1216412110 |
0.79 |
|
| 2013 |
Kurban M, Wajid M, Shimomura Y, Christiano AM. Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis. Journal of the European Academy of Dermatology and Venereology : Jeadv. 27: 545-9. PMID 22385360 DOI: 10.1111/J.1468-3083.2012.04472.X |
0.408 |
|
| 2012 |
Harel S, Christiano AM. Genetics of Structural Hair Disorders. The Journal of Investigative Dermatology. 132: E22-6. PMID 26875438 DOI: 10.1038/Skinbio.2012.7 |
0.392 |
|
| 2012 |
Fantauzzo KA, Kurban M, Levy B, Christiano AM. Trps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosis. Plos Genetics. 8: e1003002. PMID 23133399 DOI: 10.1371/Journal.Pgen.1003002 |
0.755 |
|
| 2012 |
Harel S, Christiano AM. Keratin 71 mutations: from water dogs to woolly hair. The Journal of Investigative Dermatology. 132: 2315-7. PMID 22971920 DOI: 10.1038/Jid.2012.291 |
0.46 |
|
| 2012 |
Kim H, Casta A, Tang X, Luke CT, Kim AL, Bickers DR, Athar M, Christiano AM. Loss of hairless confers susceptibility to UVB-induced tumorigenesis via disruption of NF-kappaB signaling. Plos One. 7: e39691. PMID 22761871 DOI: 10.1371/Journal.Pone.0039691 |
0.368 |
|
| 2012 |
Salas-Alanis JC, Cepeda-Valdes R, Mellerio JE, Christiano AM, Uitto J. Progress in epidermolysis bullosa: summary of a workshop in CILAD-2010*. International Journal of Dermatology. 51: 682-7. PMID 22607285 DOI: 10.1111/J.1365-4632.2011.05130.X |
0.423 |
|
| 2012 |
Casta A, Kim H, Luke CT, Bachelor MA, Engelhard A, Owens DM, Christiano AM. Hairless and NFκB form a positive feedback loop after UVB and TNFα stimulation. Photochemistry and Photobiology. 88: 1173-83. PMID 22329811 DOI: 10.1111/J.1751-1097.2012.01110.X |
0.406 |
|
| 2012 |
Cabral RM, Kurban M, Wajid M, Shimomura Y, Petukhova L, Christiano AM. Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. Genomics. 99: 202-8. PMID 22289416 DOI: 10.1016/J.Ygeno.2012.01.005 |
0.434 |
|
| 2012 |
Uitto J, Christiano AM, McLean WH, McGrath JA. Novel molecular therapies for heritable skin disorders. The Journal of Investigative Dermatology. 132: 820-8. PMID 22158553 DOI: 10.1038/Jid.2011.389 |
0.354 |
|
| 2012 |
Fantauzzo KA, Christiano AM. Trps1 activates a network of secreted Wnt inhibitors and transcription factors crucial to vibrissa follicle morphogenesis. Development (Cambridge, England). 139: 203-14. PMID 22115758 DOI: 10.1242/Dev.069971 |
0.75 |
|
| 2011 |
Salas-Alanis JC, Cepeda-Valdés R, González-Santos A, Amaya-Guerra M, Kurban M, Christiano AM. [Mutation in the ED1, Ala349Thr in a patient with X-linked hypohidrotic ectodermal dysplasia]. Revista MéDica De Chile. 139: 1601-4. PMID 22446708 |
0.315 |
|
| 2011 |
Kurban M, Kim CA, Kiuru M, Fantauzzo K, Cabral R, Abbas O, Levy B, Christiano AM. Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome. Dermatology (Basel, Switzerland). 223: 316-20. PMID 22310962 DOI: 10.1159/000333800 |
0.716 |
|
| 2011 |
Kurban M, Wajid M, Petukhova L, Shimomura Y, Christiano AM. A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance. Journal of Human Genetics. 56: 701-6. PMID 21814222 DOI: 10.1038/Jhg.2011.84 |
0.458 |
|
| 2011 |
Kiuru M, Kurban M, Itoh M, Petukhova L, Shimomura Y, Wajid M, Christiano AM. Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1. American Journal of Human Genetics. 88: 839-44. PMID 21665001 DOI: 10.1016/J.Ajhg.2011.05.014 |
0.447 |
|
| 2011 |
Itoh M, Kiuru M, Cairo MS, Christiano AM. Generation of keratinocytes from normal and recessive dystrophic epidermolysis bullosa-induced pluripotent stem cells. Proceedings of the National Academy of Sciences of the United States of America. 108: 8797-802. PMID 21555586 DOI: 10.1073/Pnas.1100332108 |
0.343 |
|
| 2011 |
Fantauzzo KA, Christiano AM. There and back again: hair follicle stem cell dynamics. Cell Stem Cell. 8: 8-9. PMID 21211777 DOI: 10.1016/J.Stem.2010.12.018 |
0.711 |
|
| 2011 |
Salas-Alanis JC, Cepeda-Valdés R, González-Santos A, Amaya-Guerra M, Kurban M, Christiano AM. Mutación en el gen EDA1, Ala349Thr en paciente con displasia ectodérmica hipohidrótica ligada a X Revista MéDica De Chile. 139: 1601-1604. DOI: 10.4067/S0034-98872011001200011 |
0.421 |
|
| 2011 |
Liao Y, Itoh M, Roberts S, Highet AM, Yang A, Christiano A, Cairo MS. Human Umbilical Cord Blood (HUCB) Derived Pluripotent Stem Cells Enhances Wound Healing Blood. 118: 4824-4824. DOI: 10.1182/Blood.V118.21.4824.4824 |
0.366 |
|
| 2011 |
Sorbo FD, Brancati F, Joanna GD, Valente EM, Lauria G, Albanese A, Ioannides D, Beltraminelli H, Dietrich N, Hunziker T, Rigopoulos D, Gregoriou S, Makris M, Pope E, Doria AS, ... ... Christiano AM, et al. Contents Vol. 223, 2011 Dermatology. 223. DOI: 10.1159/000337111 |
0.67 |
|
| 2010 |
Kurban M, Wajid M, Shimomura Y, Christiano AM. A nonsense mutation in the SCN9A gene in congenital insensitivity to pain. Dermatology (Basel, Switzerland). 221: 179-83. PMID 20628234 DOI: 10.1159/000314692 |
0.304 |
|
| 2010 |
Kurban M, Michailidis E, Wajid M, Shimomura Y, Christiano AM. A common founder mutation in the EDA-A1 gene in X-linked hypodontia. Dermatology (Basel, Switzerland). 221: 243-7. PMID 20628232 DOI: 10.1159/000314329 |
0.383 |
|
| 2010 |
Petukhova L, Duvic M, Hordinsky M, Norris D, Price V, Shimomura Y, Kim H, Singh P, Lee A, Chen WV, Meyer KC, Paus R, Jahoda CA, Amos CI, Gregersen PK, ... Christiano AM, et al. Genome-wide association study in alopecia areata implicates both innate and adaptive immunity. Nature. 466: 113-7. PMID 20596022 DOI: 10.1038/Nature09114 |
0.343 |
|
| 2010 |
Shimomura Y, Christiano AM. Biology and genetics of hair. Annual Review of Genomics and Human Genetics. 11: 109-32. PMID 20590427 DOI: 10.1146/Annurev-Genom-021610-131501 |
0.442 |
|
| 2010 |
Kiuru M, Itoh M, Cairo MS, Christiano AM. Bone marrow stem cell therapy for recessive dystrophic epidermolysis bullosa. Dermatologic Clinics. 28: 371-82, xii-xiii. PMID 20447506 DOI: 10.1016/J.Det.2010.02.004 |
0.313 |
|
| 2010 |
Shimomura Y, Agalliu D, Vonica A, Luria V, Wajid M, Baumer A, Belli S, Petukhova L, Schinzel A, Brivanlou AH, Barres BA, Christiano AM. APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. Nature. 464: 1043-7. PMID 20393562 DOI: 10.1038/Nature08875 |
0.767 |
|
| 2010 |
Shimomura Y, Wajid M, Petukhova L, Kurban M, Christiano AM. Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. American Journal of Human Genetics. 86: 632-8. PMID 20346438 DOI: 10.1016/J.Ajhg.2010.02.025 |
0.481 |
|
| 2010 |
Kurban M, Cheng T, Wajid M, Kiuru M, Shimomura Y, Christiano AM. A novel mutation in the cathepsin C gene in a Pakistani family with Papillon-Lefevre syndrome. Journal of the European Academy of Dermatology and Venereology : Jeadv. 24: 967-9. PMID 20236208 DOI: 10.1111/J.1468-3083.2010.03575.X |
0.441 |
|
| 2010 |
Shimomura Y, Wajid M, Kurban M, Christiano AM. Splice site mutations in the P-cadherin gene underlie hypotrichosis with juvenile macular dystrophy. Dermatology (Basel, Switzerland). 220: 208-12. PMID 20203473 DOI: 10.1159/000275673 |
0.429 |
|
| 2010 |
Wajid M, Kurban M, Shimomura Y, Christiano AM. NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis. Dermatology (Basel, Switzerland). 220: 8-14. PMID 20016120 DOI: 10.1159/000265757 |
0.42 |
|
| 2010 |
Shimomura Y, Wajid M, Weiser J, Kraemer L, Christiano AM. Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma. Clinical and Experimental Dermatology. 35: 759-64. PMID 19874353 DOI: 10.1111/J.1365-2230.2009.03700.X |
0.401 |
|
| 2010 |
Shimomura Y, Wajid M, Kurban M, Sato N, Christiano AM. Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia. The Journal of Investigative Dermatology. 130: 892-5. PMID 19865094 DOI: 10.1038/Jid.2009.341 |
0.45 |
|
| 2010 |
Kurban M, Shimomura Y, Bahhady R, Ghosn S, Kibbi AG, Christiano AM. Nonsense mutation in the ALOX12B gene leads to autosomal recessive congenital ichthyosis in a Lebanese family. Journal of the European Academy of Dermatology and Venereology : Jeadv. 24: 232-4. PMID 19694890 DOI: 10.1111/j.1468-3083.2009.03381.x |
0.314 |
|
| 2009 |
Shimomura Y, Ito M, Christiano AM. Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis. Journal of Dermatological Science. 56: 205-7. PMID 19892526 DOI: 10.1016/J.Jdermsci.2009.08.005 |
0.436 |
|
| 2009 |
Kurban M, Wajid M, Shimomura Y, Bahhady R, Kibbi AG, Christiano AM. Evidence for a founder mutation in the cathepsin C gene in three families with Papillon-Lefèvre syndrome. Dermatology (Basel, Switzerland). 219: 289-94. PMID 19816003 DOI: 10.1159/000245341 |
0.399 |
|
| 2009 |
Wajid M, Kurban M, Shimomura Y, Christiano AM. Mutations in the SLURP-1 gene underlie Mal de Meleda in three Pakistani families. Journal of Dermatological Science. 56: 27-32. PMID 19692209 DOI: 10.1016/J.Jdermsci.2009.06.012 |
0.354 |
|
| 2009 |
Wajid M, Ishii Y, Kurban M, Dua-Awereh MB, Shimomura Y, Christiano AM. Polyalanine repeat expansion mutations in the HOXD13 gene in Pakistani families with synpolydactyly. Clinical Genetics. 76: 300-2. PMID 19686284 DOI: 10.1111/J.1399-0004.2009.01213.X |
0.42 |
|
| 2009 |
Bazzi H, Demehri S, Potter CS, Barber AG, Awgulewitsch A, Kopan R, Christiano AM. Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation. Differentiation; Research in Biological Diversity. 78: 292-300. PMID 19683850 DOI: 10.1016/J.Diff.2009.06.004 |
0.386 |
|
| 2009 |
Richardson GD, Bazzi H, Fantauzzo KA, Waters JM, Crawford H, Hynd P, Christiano AM, Jahoda CA. KGF and EGF signalling block hair follicle induction and promote interfollicular epidermal fate in developing mouse skin. Development (Cambridge, England). 136: 2153-64. PMID 19474150 DOI: 10.1242/Dev.031427 |
0.736 |
|
| 2009 |
Shimomura Y, Wajid M, Weiser J, Kraemer L, Ishii Y, Lombillo V, Bale SJ, Christiano AM. Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia. Clinical Genetics. 75: 582-4. PMID 19438931 DOI: 10.1111/J.1399-0004.2009.01178.X |
0.422 |
|
| 2009 |
López-García DR, Salas-Alanis JC, Christiano AM, Ocampo-Candiani J, Gómez-Flores M. Sabinas syndrome in monozygotic twins. Clinical and Experimental Dermatology. 34: e94-8. PMID 19438561 DOI: 10.1111/J.1365-2230.2008.03197.X |
0.325 |
|
| 2009 |
Petukhova L, Shimomura Y, Wajid M, Gorroochurn P, Hodge SE, Christiano AM. The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis. Human Heredity. 68: 117-30. PMID 19365138 DOI: 10.1159/000212504 |
0.411 |
|
| 2009 |
Shimomura Y, Wajid M, Zlotogorski A, Lee YJ, Rice RH, Christiano AM. Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis. The Journal of Investigative Dermatology. 129: 1927-34. PMID 19262606 DOI: 10.1038/Jid.2009.19 |
0.454 |
|
| 2009 |
Dua-Awereh MB, Shimomura Y, Kraemer L, Wajid M, Christiano AM. Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma. Journal of Dermatological Science. 53: 192-7. PMID 19157795 DOI: 10.1016/J.Jdermsci.2008.11.005 |
0.439 |
|
| 2009 |
Tolar J, Ishida-Yamamoto A, Riddle M, McElmurry RT, Osborn M, Xia L, Lund T, Slattery C, Uitto J, Christiano AM, Wagner JE, Blazar BR. Amelioration of epidermolysis bullosa by transfer of wild-type bone marrow cells. Blood. 113: 1167-74. PMID 18955559 DOI: 10.1182/Blood-2008-06-161299 |
0.341 |
|
| 2009 |
Shimomura Y, Wajid M, Petukhova L, Shapiro L, Christiano AM. Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. The Journal of Investigative Dermatology. 129: 622-8. PMID 18830268 DOI: 10.1038/Jid.2008.290 |
0.468 |
|
| 2009 |
Shimomura Y, Garzon MC, Kristal L, Shapiro L, Christiano AM. Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene. Experimental Dermatology. 18: 218-21. PMID 18803659 DOI: 10.1111/J.1600-0625.2008.00788.X |
0.473 |
|
| 2009 |
Wojciechowicz K, Higgins C, Christiano A, Jahoda C. 07-P006 A new in situ study of the cellular and molecular basis of adipogenesis using developing mouse skin Mechanisms of Development. 126: S138. DOI: 10.1016/J.Mod.2009.06.289 |
0.305 |
|
| 2008 |
Fantauzzo KA, Tadin-Strapps M, You Y, Mentzer SE, Baumeister FA, Cianfarani S, Van Maldergem L, Warburton D, Sundberg JP, Christiano AM. A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice. Human Molecular Genetics. 17: 3539-51. PMID 18713754 DOI: 10.1093/Hmg/Ddn247 |
0.787 |
|
| 2008 |
Petukhova L, Sousa EC, Martinez-Mir A, Vitebsky A, Dos Santos LG, Shapiro L, Haynes C, Gordon D, Shimomura Y, Christiano AM. Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation. Genomics. 92: 273-8. PMID 18692127 DOI: 10.1016/J.Ygeno.2008.06.009 |
0.481 |
|
| 2008 |
Owens P, Bazzi H, Engelking E, Han G, Christiano AM, Wang XJ. Smad4-dependent desmoglein-4 expression contributes to hair follicle integrity. Developmental Biology. 322: 156-66. PMID 18692037 DOI: 10.1016/J.Ydbio.2008.07.020 |
0.367 |
|
| 2008 |
Christiano AM. Hair follicle epithelial stem cells get their sox on. Cell Stem Cell. 3: 3-4. PMID 18593550 DOI: 10.1016/J.Stem.2008.06.014 |
0.309 |
|
| 2008 |
Akman A, Masse M, Mihci E, Richard G, Christiano AM, Balle BJ, Ciftcioglu MA, Alpsoy E. Progressive symmetrical erythrokeratoderma: Report of a Turkish family and evaluation for loricrin and connexin gene mutations Clinical and Experimental Dermatology. 33: 582-584. PMID 18462442 DOI: 10.1111/J.1365-2230.2008.02728.X |
0.415 |
|
| 2008 |
Amorosi S, D'Armiento M, Calcagno G, Russo I, Adriani M, Christiano AM, Weiner L, Brissette JL, Pignata C. FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus. Clinical Genetics. 73: 380-4. PMID 18339010 DOI: 10.1111/J.1399-0004.2008.00977.X |
0.465 |
|
| 2008 |
Shimomura Y, Wajid M, Ishii Y, Shapiro L, Petukhova L, Gordon D, Christiano AM. Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. Nature Genetics. 40: 335-9. PMID 18297072 DOI: 10.1038/Ng.100 |
0.453 |
|
| 2008 |
Engelhard A, Bauer RC, Casta A, Djabali K, Christiano AM. Ligand-independent regulation of the hairless promoter by vitamin D receptor. Photochemistry and Photobiology. 84: 515-21. PMID 18266815 DOI: 10.1111/J.1751-1097.2008.00301.X |
0.36 |
|
| 2008 |
Roelandt T, Kraemer L, Van Neste D, Lissens W, Roseeuw D, Christiano AM, Hachem JP. Novel mutation in the human hairless gene once more erroneously diagnosed and treated as 'alopecia areata'. The British Journal of Dermatology. 158: 834-5. PMID 18241276 DOI: 10.1111/J.1365-2133.2007.08413.X |
0.432 |
|
| 2008 |
Shimomura Y, Wajid M, Shapiro L, Christiano AM. P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle. Development (Cambridge, England). 135: 743-53. PMID 18199584 DOI: 10.1242/Dev.006718 |
0.399 |
|
| 2008 |
Kraemer L, Wajid M, Shimomura Y, Christiano AM. Mutations in the hairless gene underlie APL in three families of Pakistani origin. Journal of Dermatological Science. 50: 25-30. PMID 18164595 DOI: 10.1016/J.Jdermsci.2007.10.012 |
0.416 |
|
| 2008 |
Fantauzzo KA, Bazzi H, Jahoda CA, Christiano AM. Dynamic expression of the zinc-finger transcription factor Trps1 during hair follicle morphogenesis and cycling. Gene Expression Patterns : Gep. 8: 51-7. PMID 18054290 DOI: 10.1016/J.Modgep.2007.10.006 |
0.768 |
|
| 2008 |
Ishii Y, Wajid M, Bazzi H, Fantauzzo KA, Barber AG, Blaydon DC, Nam JS, Yoon JK, Kelsell DP, Christiano AM. Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia. The Journal of Investigative Dermatology. 128: 867-70. PMID 17805348 DOI: 10.1038/Sj.Jid.5701078 |
0.765 |
|
| 2007 |
Michailidis E, Theos A, Zlotogorski A, Martinez-Mir A, Christiano AM. Atrichia with papular lesions resulting from novel compound heterozygous mutations in the human hairless gene. Pediatric Dermatology. 24: E79-82. PMID 17958788 DOI: 10.1111/J.1525-1470.2007.00448.X |
0.442 |
|
| 2007 |
Bazzi H, Christiano AM. Broken hearts, woolly hair, and tattered skin: when desmosomal adhesion goes awry. Current Opinion in Cell Biology. 19: 515-20. PMID 17951043 DOI: 10.1016/J.Ceb.2007.08.001 |
0.371 |
|
| 2007 |
Kim H, Wajid M, Kraemer L, Shimomura Y, Christiano AM. Nonsense mutations in the hairless gene underlie APL in five families of Pakistani origin. Journal of Dermatological Science. 48: 207-11. PMID 17869066 DOI: 10.1016/J.Jdermsci.2007.07.007 |
0.447 |
|
| 2007 |
Bazzi H, Fantauzzo KA, Richardson GD, Jahoda CA, Christiano AM. The Wnt inhibitor, Dickkopf 4, is induced by canonical Wnt signaling during ectodermal appendage morphogenesis. Developmental Biology. 305: 498-507. PMID 17397822 DOI: 10.1016/J.Ydbio.2007.02.035 |
0.733 |
|
| 2007 |
Wajid M, Bazzi H, Rockey J, Lubetkin J, Zlotogorski A, Christiano AM. Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family. The Journal of Investigative Dermatology. 127: 1779-82. PMID 17392831 DOI: 10.1038/Sj.Jid.5700791 |
0.426 |
|
| 2007 |
Bazzi H, Fantauzzo KA, Richardson GD, Jahoda CA, Christiano AM. Transcriptional profiling of developing mouse epidermis reveals novel patterns of coordinated gene expression. Developmental Dynamics : An Official Publication of the American Association of Anatomists. 236: 961-70. PMID 17330888 DOI: 10.1002/Dvdy.21099 |
0.76 |
|
| 2007 |
O'Regan GM, Zurada J, Martinez-Mir A, Christiano AM, Irvine AD. A recurrent splice-site mutation in the human hairless gene underlies congenital atrichia in Irish families. The British Journal of Dermatology. 156: 744-7. PMID 17263802 DOI: 10.1111/J.1365-2133.2006.07742.X |
0.417 |
|
| 2007 |
Martinez-Mir A, Zlotogorski A, Gordon D, Petukhova L, Mo J, Gilliam TC, Londono D, Haynes C, Ott J, Hordinsky M, Nanova K, Norris D, Price V, Duvic M, Christiano AM. Genomewide scan for linkage reveals evidence of several susceptibility loci for alopecia areata. American Journal of Human Genetics. 80: 316-28. PMID 17236136 DOI: 10.1086/511442 |
0.347 |
|
| 2007 |
Barber AG, Wajid M, Columbo M, Lubetkin J, Christiano AM. Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene. Journal of Dermatological Science. 45: 161-6. PMID 17194569 DOI: 10.1016/J.Jdermsci.2006.11.013 |
0.434 |
|
| 2007 |
Tolar J, McElmurry RT, Bazzi H, Xia L, Ishida-Yamamoto A, Christiano AM, Blazar BR. Correction of the Skin Defect in Murine Recessive Dystrophic Epidermolysis Bullosa by Bone Marrow Derived SLAM Family Receptor Enriched Cells. Blood. 110: 435-435. DOI: 10.1182/Blood.V110.11.435.435 |
0.345 |
|
| 2006 |
Kraemer L, Wajid M, Christiano AM. A glycine substitution in the COL7A1 gene causes mild RDEB in a Pakistani family. European Journal of Dermatology : Ejd. 16: 615-9. PMID 17229600 DOI: 10.1684/Ejd.2006.0007 |
0.452 |
|
| 2006 |
Blaydon DC, Ishii Y, O'Toole EA, Unsworth HC, Teh MT, Rüschendorf F, Sinclair C, Hopsu-Havu VK, Tidman N, Moss C, Watson R, de Berker D, Wajid M, Christiano AM, Kelsell DP. The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia. Nature Genetics. 38: 1245-7. PMID 17041604 DOI: 10.1038/Ng1883 |
0.438 |
|
| 2006 |
Ashoor G, Massé M, García Luciano LM, Sheffer R, Martinez-Mir A, Christiano AM, Zlotogorski A. A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma. The British Journal of Dermatology. 155: 198-200. PMID 16792775 DOI: 10.1111/J.1365-2133.2006.07188.X |
0.381 |
|
| 2006 |
Schaffer JV, Bazzi H, Vitebsky A, Witkiewicz A, Kovich OI, Kamino H, Shapiro LS, Amin SP, Orlow SJ, Christiano AM. Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. The Journal of Investigative Dermatology. 126: 1286-91. PMID 16543896 DOI: 10.1038/Sj.Jid.5700237 |
0.446 |
|
| 2006 |
Bazzi H, Getz A, Mahoney MG, Ishida-Yamamoto A, Langbein L, Wahl JK, Christiano AM. Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle. Differentiation; Research in Biological Diversity. 74: 129-40. PMID 16533311 DOI: 10.1111/J.1432-0436.2006.00061.X |
0.392 |
|
| 2006 |
Mahoney MG, Hu Y, Brennan D, Bazzi H, Christiano AM, Wahl JK. Delineation of diversified desmoglein distribution in stratified squamous epithelia: implications in diseases. Experimental Dermatology. 15: 101-9. PMID 16433681 DOI: 10.1111/J.1600-0625.2006.00391.X |
0.376 |
|
| 2006 |
Chuang GS, Martinez-Mir A, Engler DE, Gmyrek RF, Zlotogorski A, Christiano AM. Multiple cutaneous and uterine leiomyomata resulting from missense mutations in the fumarate hydratase gene Clinical and Experimental Dermatology. 31: 118-121. PMID 16309500 DOI: 10.1111/J.1365-2230.2005.01977.X |
0.446 |
|
| 2005 |
Martinez-Mir A, Zlotogorski A, Christiano AM. Search for susceptibility genes in alopecia areata. The Journal of Investigative Dermatology. Symposium Proceedings / the Society For Investigative Dermatology, Inc. [and] European Society For Dermatological Research. 10: 281-2. PMID 16402481 DOI: 10.1111/J.0022-202X.2005.10130_3.X |
0.305 |
|
| 2005 |
Bazzi H, Martinez-Mir A, Kljuic A, Christiano AM. Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats. The Journal of Investigative Dermatology. Symposium Proceedings / the Society For Investigative Dermatology, Inc. [and] European Society For Dermatological Research. 10: 222-4. PMID 16382669 DOI: 10.1111/J.1087-0024.2005.10110.X |
0.823 |
|
| 2005 |
Messenger AG, Bazzi H, Parslew R, Shapiro L, Christiano AM. A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. The Journal of Investigative Dermatology. 125: 1077-9. PMID 16297213 DOI: 10.1111/J.0022-202X.2005.23903.X |
0.409 |
|
| 2005 |
Paradisi M, Massé M, Martinez-Mir A, Lam H, Pedicelli C, Christiano AM. Identification of a novel splice site mutation in the human hairless gene underlying atrichia with papular lesions. European Journal of Dermatology : Ejd. 15: 332-8. PMID 16172039 |
0.325 |
|
| 2005 |
Ashoor GG, Greenstein RM, Lam H, Martinez-Mir A, Zlotogorski A, Christiano AM. Novel compound heterozygous nonsense mutations in the hairless gene causing atrichia with papular lesions. Journal of Dermatological Science. 40: 29-33. PMID 16023329 DOI: 10.1016/J.Jdermsci.2005.04.004 |
0.39 |
|
| 2005 |
Massé M, Martinez-Mir A, Lam H, Geraghty MT, Christiano AM. Identification of a recurrent mutation in the human hairless gene underlying atrichia with papular lesions Clinical and Experimental Dermatology. 30: 363-365. PMID 15953070 DOI: 10.1111/J.1365-2230.2005.01762.X |
0.438 |
|
| 2005 |
Auricchio L, Adriani M, Frank J, Busiello R, Christiano A, Pignata C. Nail dystrophy associated with a heterozygous mutation of the nude/SCID human FOXN1 (WHN) gene. Archives of Dermatology. 141: 647-8. PMID 15897400 DOI: 10.1001/Archderm.141.5.647 |
0.426 |
|
| 2005 |
Massé M, Cserhalmi-Friedman PB, Falanga V, Celebi JT, Martinez-Mir A, Christiano AM. Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa. Clinical and Experimental Dermatology. 30: 289-93. PMID 15807692 DOI: 10.1111/J.1365-2230.2005.01763.X |
0.407 |
|
| 2005 |
Chuang GS, Martinez-Mir A, Geyer A, Engler DE, Glaser B, Cserhalmi-Friedman PB, Gordon D, Horev L, Lukash B, Herman E, Cid MP, Brenner S, Landau M, Sprecher E, Garcia Muret MP, ... Christiano AM, et al. Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata. Journal of the American Academy of Dermatology. 52: 410-6. PMID 15761418 DOI: 10.1016/J.Jaad.2004.08.051 |
0.454 |
|
| 2005 |
Chan I, Wong T, Martinez-Mir A, Christiano AM, McGrath JA. Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer. Clinical and Experimental Dermatology. 30: 75-8. PMID 15663510 DOI: 10.1111/J.1365-2230.2004.01675.X |
0.368 |
|
| 2005 |
Nakabayashi K, Amann D, Ren Y, Saarialho-Kere U, Avidan N, Gentles S, MacDonald JR, Puffenberger EG, Christiano AM, Martinez-Mir A, Salas-Alanis JC, Rizzo R, Vamos E, Raams A, Les C, et al. Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. American Journal of Human Genetics. 76: 510-6. PMID 15645389 DOI: 10.1086/428141 |
0.344 |
|
| 2005 |
Djabali K, Christiano AM. Hairless contains a novel nuclear matrix targeting signal and associates with histone deacetylase 3 in nuclear speckles. Differentiation; Research in Biological Diversity. 72: 410-8. PMID 15606500 DOI: 10.1111/J.1432-0436.2004.07208007.X |
0.327 |
|
| 2005 |
Uyttendaele H, Panteleyev AA, de Berker D, Tobin DT, Christiano AM. Activation of Notch1 in the hair follicle leads to cell-fate switch and Mohawk alopecia. Differentiation; Research in Biological Diversity. 72: 396-409. PMID 15606499 DOI: 10.1111/J.1432-0436.2004.07208006.X |
0.368 |
|
| 2005 |
Kim H, Panteleyev AA, Jahoda CA, Ishii Y, Christiano AM. Genomic organization and analysis of the hairless gene in four hypotrichotic rat strains. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 15: 975-81. PMID 15599556 DOI: 10.1007/S00335-004-2383-3 |
0.385 |
|
| 2005 |
Lou H, Panteleyev A, Christiano AM, Crystal RG, Leopold PL. 1123. Adenovirus-Mediated Expression of Sonic Hedgehog Increases the Number of CD34+ Cells in the Epidermal Stem Cell Niche in Hair Follicles Molecular Therapy. 11. DOI: 10.1016/J.Ymthe.2005.07.671 |
0.337 |
|
| 2004 |
Meyer B, Bazzi H, Zidek V, Musilova A, Pravenec M, Kurtz TW, Nurnberg P, Christiano AM. A spontaneous mutation in the desmoglein 4 gene underlies hypotrichosis in a new lanceolate hair rat model. Differentiation; Research in Biological Diversity. 72: 541-7. PMID 15617564 DOI: 10.1111/J.1432-0436.2004.07209007.X |
0.43 |
|
| 2004 |
Bazzi H, Kljuic A, Christiano AM, Christiano AM, Panteleyev AA. Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo "hairless" rat. Differentiation; Research in Biological Diversity. 72: 450-64. PMID 15606503 DOI: 10.1111/J.1432-0436.2004.07208010.X |
0.794 |
|
| 2004 |
Brennan D, Hu Y, Kljuic A, Choi Y, Joubeh S, Bashkin M, Wahl J, Fertala A, Pulkkinen L, Uitto J, Christiano AM, Panteleyev A, Mahoney MG. Differential structural properties and expression patterns suggest functional significance for multiple mouse desmoglein 1 isoforms. Differentiation; Research in Biological Diversity. 72: 434-49. PMID 15606502 DOI: 10.1111/J.1432-0436.2004.07208009.X |
0.79 |
|
| 2004 |
O'Shaughnessy RF, Christiano AM, Jahoda CA. The role of BMP signalling in the control of ID3 expression in the hair follicle. Experimental Dermatology. 13: 621-9. PMID 15447722 DOI: 10.1111/J.0906-6705.2004.00206.X |
0.346 |
|
| 2004 |
O'Shaughnessy RF, Yeo W, Gautier J, Jahoda CA, Christiano AM. The WNT signalling modulator, Wise, is expressed in an interaction-dependent manner during hair-follicle cycling. The Journal of Investigative Dermatology. 123: 613-21. PMID 15373764 DOI: 10.1111/J.0022-202X.2004.23410.X |
0.373 |
|
| 2004 |
Kljuic A, Bauer RC, Christiano AM. Genomic organization of mouse desmocollin genes reveals evolutionary conservation. Dna Sequence : the Journal of Dna Sequencing and Mapping. 15: 148-52. PMID 15346771 DOI: 10.1080/10425170410001679156 |
0.786 |
|
| 2004 |
Christiano AM. Epithelial stem cells: stepping out of their niche. Cell. 118: 530-2. PMID 15339656 DOI: 10.1016/J.Cell.2004.08.024 |
0.305 |
|
| 2004 |
Tadin-Strapps M, Warburton D, Baumeister FA, Fischer SG, Yonan J, Gilliam TC, Christiano AM. Cloning of the breakpoints of a de novo inversion of chromosome 8, inv (8)(p11.2q23.1) in a patient with Ambras syndrome. Cytogenetic and Genome Research. 107: 68-76. PMID 15305058 DOI: 10.1159/000079573 |
0.732 |
|
| 2004 |
Moss C, Martinez-Mir A, Lam H, Tadin-Strapps M, Kljuic A, Christiano AM. A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. The Journal of Investigative Dermatology. 123: 607-10. PMID 15304105 DOI: 10.1111/J.0022-202X.2004.23311.X |
0.787 |
|
| 2004 |
O'Shaughnessy RF, Christiano AM. Inherited disorders of the skin in human and mouse: from development to differentiation. The International Journal of Developmental Biology. 48: 171-9. PMID 15272382 DOI: 10.1387/Ijdb.15272382 |
0.385 |
|
| 2004 |
Tadin-Strapps M, Warburton D, Salas-Alanis JC, Lopez-Cepeda LD, Christiano AM. Fishing for new genes in skin biology: impact of cytogenetics on gene discovery. Clinical Genetics. 66: 94-106. PMID 15253757 DOI: 10.1111/J.0009-9163.2004.00301.X |
0.754 |
|
| 2004 |
Adriani M, Martinez-Mir A, Fusco F, Busiello R, Frank J, Telese S, Matrecano E, Ursini MV, Christiano AM, Pignata C. Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population. Annals of Human Genetics. 68: 265-8. PMID 15180707 DOI: 10.1046/J.1529-8817.2004.00091.X |
0.438 |
|
| 2004 |
Chuang GS, Martinez-Mir A, Yu HS, Sung FY, Chuang RY, Cserhalmi-Friedman PB, Christiano AM. A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa Clinical and Experimental Dermatology. 29: 304-307. PMID 15115517 DOI: 10.1111/J.1365-2230.2004.01495.X |
0.427 |
|
| 2004 |
Schmuth M, Fluhr JW, Crumrine DC, Uchida Y, Hachem JP, Behne M, Moskowitz DG, Christiano AM, Feingold KR, Elias PM. Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis). The Journal of Investigative Dermatology. 122: 909-22. PMID 15102081 DOI: 10.1111/J.0022-202X.2004.22431.X |
0.385 |
|
| 2004 |
Engelhard A, Christiano AM. The hairless promoter is differentially regulated by thyroid hormone in keratinocytes and neuroblastoma cells. Experimental Dermatology. 13: 257-64. PMID 15086342 DOI: 10.1111/J.0906-6705.2004.00175.X |
0.362 |
|
| 2004 |
Djabali K, Zlotogorski A, Metzker A, Ben-Amitai D, Christiano AM. Interaction of hairless and thyroid hormone receptor is not involved in the pathogenesis of atrichia with papular lesions. Experimental Dermatology. 13: 251-6. PMID 15086341 DOI: 10.1111/J.0906-6705.2004.00174.X |
0.342 |
|
| 2004 |
Jahoda CA, Kljuic A, O'Shaughnessy R, Crossley N, Whitehouse CJ, Robinson M, Reynolds AJ, Demarchez M, Porter RM, Shapiro L, Christiano AM. The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene. Genomics. 83: 747-56. PMID 15081105 DOI: 10.1016/J.Ygeno.2003.11.015 |
0.813 |
|
| 2004 |
Cserhalmi-Friedman PB, Panteleyev AA, Christiano AM. Recapitulation of the hairless mouse phenotype using catalytic oligonucleotides: implications for permanent hair removal. Experimental Dermatology. 13: 155-62. PMID 14987255 DOI: 10.1111/J.0906-6705.2004.0143.X |
0.409 |
|
| 2004 |
Horev L, Djabali K, Green J, Sinclair R, Martinez-Mir A, Ingber A, Christiano AM, Zlotogorski A. De novo mutations in monilethrix. Experimental Dermatology. 12: 882-5. PMID 14714571 DOI: 10.1111/J.0906-6705.2003.00022.X |
0.427 |
|
| 2004 |
Zlotogorski A, Hochberg Z, Mirmirani P, Metzker A, Ben-Amitai D, Martinez-Mir A, Panteleyev AA, Christiano AM. Clinical and pathologic correlations in genetically distinct forms of atrichia. Archives of Dermatology. 139: 1591-6. PMID 14676077 DOI: 10.1001/Archderm.139.12.1591 |
0.361 |
|
| 2004 |
Martinez-Mir A, Zlotogorski A, Ott J, Gordon D, Christiano AM. Genetic linkage studies in alopecia areata. The Journal of Investigative Dermatology. Symposium Proceedings. 8: 199-203. PMID 14582673 DOI: 10.1046/J.1087-0024.2003.00809.X |
0.335 |
|
| 2004 |
Sinclair R, Jolley D, Mallari R, Magee J, Tosti A, Piracinni BM, Vincenzi C, Happle R, Ferrando J, Grimalt R, Thérèse L, Van Neste D, Zlotogorski A, Christiano AM, Whiting D. Morphological approach to hair disorders. The Journal of Investigative Dermatology. Symposium Proceedings. 8: 56-64. PMID 12894995 DOI: 10.1046/J.1523-1747.2003.12172.X |
0.34 |
|
| 2004 |
Christiano AM, Jahoda CA. Special issue on epidermal and hair follicle differentiation, part 2 Differentiation. 72: 465. DOI: 10.1111/J.1432-0436.2004.07209001.X |
0.301 |
|
| 2004 |
Christiano AM, Jahoda CA. Special issue on epidermal and hair follicle differentiation Differentiation. 72: 363. DOI: 10.1111/J.1432-0436.2004.07208001.X |
0.301 |
|
| 2003 |
Martinez-Mir A, Zlotogorski A, Londono D, Gordon D, Grunn A, Uribe E, Horev L, Ruiz IM, Davalos NO, Alayan O, Liu J, Gilliam TC, Salas-Alanis JC, Christiano AM. Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24. Journal of Medical Genetics. 40: 872-8. PMID 14684683 DOI: 10.1136/Jmg.40.12.872 |
0.338 |
|
| 2003 |
Martinez-Mir A, Glaser B, Chuang GS, Horev L, Waldman A, Engler DE, Gordon D, Spelman LJ, Hatzibougias I, Green J, Christiano AM, Zlotogorski A. Germline Fumarate Hydratase Mutations in Families with Multiple Cutaneous and Uterine Leiomyomata Journal of Investigative Dermatology. 121: 741-744. PMID 14632190 DOI: 10.1046/J.1523-1747.2003.12499.X |
0.447 |
|
| 2003 |
Paradisi M, Chuang GS, Angelo C, Pedicelli C, Martinez-Mir A, Christiano AM. Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene Clinical and Experimental Dermatology. 28: 535-538. PMID 12950347 DOI: 10.1046/J.1365-2230.2003.01333.X |
0.431 |
|
| 2003 |
Kljuic A, Gilead L, Martinez-Mir A, Frank J, Christiano AM, Zlotogorski A. A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma. Experimental Dermatology. 12: 523-7. PMID 12930313 DOI: 10.1034/J.1600-0625.2003.00017.X |
0.819 |
|
| 2003 |
Lavker RM, Sun TT, Oshima H, Barrandon Y, Akiyama M, Ferraris C, Chevalier G, Favier B, Jahoda CA, Dhouailly D, Panteleyev AA, Christiano AM. Hair follicle stem cells. The Journal of Investigative Dermatology. Symposium Proceedings / the Society For Investigative Dermatology, Inc. [and] European Society For Dermatological Research. 8: 28-38. PMID 12894992 DOI: 10.1046/J.1523-1747.2003.12169.X |
0.306 |
|
| 2003 |
Paller AS, Varigos G, Metzker A, Bauer RC, Opie J, Martinez-Mir A, Christiano AM, Zlotogorski A. Compound heterozygous mutations in the hairless gene in atrichia with papular lesions. The Journal of Investigative Dermatology. 121: 430-2. PMID 12880440 DOI: 10.1046/J.1523-1747.2003.12370.X |
0.349 |
|
| 2003 |
Panteleyev AA, Mitchell PJ, Paus R, Christiano AM. Expression patterns of the transcription factor AP-2alpha during hair follicle morphogenesis and cycling. The Journal of Investigative Dermatology. 121: 13-9. PMID 12839558 DOI: 10.1046/J.1523-1747.2003.12319.X |
0.304 |
|
| 2003 |
Ward KM, Cook-Bolden FE, Christiano AM, Celebi JT. Identification of a recurrent mutation in keratin 6a in a patient with overlapping clinical features of pachyonychia congenita types 1 and 2. Clinical and Experimental Dermatology. 28: 434-6. PMID 12823309 DOI: 10.1046/J.1365-2230.2003.01263.X |
0.361 |
|
| 2003 |
Pfendner EG, Nakano A, Pulkkinen L, Christiano AM, Uitto J. Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk. Prenatal Diagnosis. 23: 447-56. PMID 12813757 DOI: 10.1002/Pd.619 |
0.355 |
|
| 2003 |
Hu G, Yildirim M, Baysal V, Yerebakan O, Yilmaz E, Inaloz HS, Martinez-Mir A, Christiano AM, Celebi JT. A recurrent mutation in the ARS (component B) gene encoding SLURP-1 in Turkish families with mal de Meleda: evidence of a founder effect. The Journal of Investigative Dermatology. 120: 967-9. PMID 12787122 DOI: 10.1046/J.1523-1747.2003.12248.X |
0.397 |
|
| 2003 |
Tadin-Strapps M, Salas-Alanis JC, Moreno L, Warburton D, Martinez-Mir A, Christiano AM. Congenital universal hypertrichosis with deafness and dental anomalies inherited as an X-linked trait. Clinical Genetics. 63: 418-22. PMID 12752576 DOI: 10.1034/J.1399-0004.2003.00069.X |
0.739 |
|
| 2003 |
Kljuic A, Bazzi H, Sundberg JP, Martinez-Mir A, O'Shaughnessy R, Mahoney MG, Levy M, Montagutelli X, Ahmad W, Aita VM, Gordon D, Uitto J, Whiting D, Ott J, Fischer S, ... ... Christiano AM, et al. Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell. 113: 249-60. PMID 12705872 DOI: 10.1016/S0092-8674(03)00273-3 |
0.801 |
|
| 2003 |
Kljuic A, Christiano AM. A novel mouse desmosomal cadherin family member, desmoglein 1 gamma. Experimental Dermatology. 12: 20-9. PMID 12631243 DOI: 10.1034/J.1600-0625.2003.120103.X |
0.797 |
|
| 2003 |
Horev L, Waran Lalin T, Martinez-Mir A, Bagheri BA, Tadin-Strapps M, Schneiderman PI, Grossman ME, Bickers DR, Christiano AM. Identification of mutations in the COL7A1 gene in a proband with mild recessive dystrophic epidermolysis bullosa and aortic insufficiency. Clinical and Experimental Dermatology. 28: 80-4. PMID 12558638 DOI: 10.1046/J.1365-2230.2003.01190.X |
0.753 |
|
| 2003 |
Cserhalmi-Friedman PB, Anyane-Yeboa K, Christiano AM. Paternal germline mosaicism in Herlitz junctional epidermolysis bullosa. Experimental Dermatology. 11: 468-70. PMID 12366701 DOI: 10.1034/J.1600-0625.2002.110511.X |
0.39 |
|
| 2002 |
Bergstein I, Leopold PL, Sato N, Panteleyev A, Christiano A, Crystal R. In vivo enhanced expression of patched dampens the sonic hedgehog pathway. Molecular Therapy : the Journal of the American Society of Gene Therapy. 6: 258-64. PMID 12161193 DOI: 10.1006/Mthe.2002.0628 |
0.358 |
|
| 2002 |
O'Driscoll J, Muston GC, McGrath JA, Lam HM, Ashworth J, Christiano AM. A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome. Clinical and Experimental Dermatology. 27: 243-6. PMID 12072018 DOI: 10.1046/J.1365-2230.2002.01031.X |
0.451 |
|
| 2002 |
Zlotogorski A, Panteleyev AA, Aita VM, Christiano AM. Clinical and molecular diagnostic criteria of congenital atrichia with papular lesions Journal of Investigative Dermatology. 118: 887-890. PMID 11982770 DOI: 10.1046/J.1523-1747.2001.01767.X |
0.346 |
|
| 2002 |
Zlotogorski A, Martinez-Mir A, Green J, Lamdagger H, Panteleyevdagger AA, Sinclair R, Christiano AM. Evidence for pseudodominant inheritance of atrichia with papular lesions. The Journal of Investigative Dermatology. 118: 881-6. PMID 11982769 DOI: 10.1046/J.1523-1747.2002.01740.X |
0.376 |
|
| 2002 |
Martinez-Mir A, Gordon D, Horev L, Klapholz L, Ott J, Christiano AM, Zlotogorski A. Multiple cutaneous and uterine leiomyomas: refinement of the genetic locus for multiple cutaneous and uterine leiomyomas on chromosome 1q42.3-43. The Journal of Investigative Dermatology. 118: 876-80. PMID 11982768 DOI: 10.1046/J.1523-1747.2002.01741.X |
0.394 |
|
| 2002 |
Zlotogorski A, Panteleyev AA, Aita VM, Christiano AM. Clinical and molecular diagnostic criteria of congenital atrichia with papular lesions. The Journal of Investigative Dermatology. 117: 1662-5. PMID 11886538 DOI: 10.1046/J.0022-202X.2001.01618.X |
0.347 |
|
| 2002 |
Whittock NV, Wan H, Morley SM, Garzon MC, Kristal L, Hyde P, McLean WH, Pulkkinen L, Uitto J, Christiano AM, Eady RA, McGrath JA. Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. The Journal of Investigative Dermatology. 118: 232-8. PMID 11841538 DOI: 10.1046/J.0022-202X.2001.01664.X |
0.413 |
|
| 2002 |
Ahmad W, Ratterree MS, Panteleyev AA, Aita VM, Sundberg JP, Christiano AM. Atrichia with papular lesions resulting from mutations in the rhesus macaque (Macaca mulatta) hairless gene. Laboratory Animals. 36: 61-7. PMID 11831740 DOI: 10.1258/0023677021911777 |
0.449 |
|
| 2001 |
Miller J, Djabali K, Chen T, Liu Y, Ioffreda M, Lyle S, Christiano AM, Holick M, Cotsarelis G. Atrichia caused by mutations in the vitamin D receptor gene is a phenocopy of generalized atrichia caused by mutations in the hairless gene. The Journal of Investigative Dermatology. 117: 612-7. PMID 11564167 DOI: 10.1046/J.0022-202X.2001.01438.X |
0.432 |
|
| 2001 |
Jahoda CA, Oliver RF, Reynolds AJ, Forrester JC, Gillespie JW, Cserhalmi-Friedman PB, Christiano AM, Horne KA. Trans-species hair growth induction by human hair follicle dermal papillae. Experimental Dermatology. 10: 229-37. PMID 11493311 DOI: 10.1034/J.1600-0625.2001.100402.X |
0.345 |
|
| 2001 |
Frank J, Jugert FK, Merk HF, Kalka K, Goerz G, Anderson K, Bickers DR, Poh-Fitzpatrick MB, Christiano AM. A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria. The Journal of Investigative Dermatology. 116: 821-3. PMID 11348478 DOI: 10.1046/J.1523-1747.2001.01308.X |
0.413 |
|
| 2001 |
Cserhalmi-Friedman PB, Milstone LM, Christiano AM. Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene. The British Journal of Dermatology. 144: 726-30. PMID 11298529 DOI: 10.1046/J.1365-2133.2001.04126.X |
0.41 |
|
| 2001 |
Cserhalmi-Friedman PB, Yeboa KA, Christiano AM. DNA based molecular analysis in the rapid diagnosis of Herlitz junctional epidermolysis bullosa. Clinical and Experimental Dermatology. 26: 205-7. PMID 11298117 DOI: 10.1046/J.1365-2230.2001.00797.X |
0.425 |
|
| 2001 |
Cserhalmi-Friedman PB, Frank JA, Ahmad W, Panteleyev AA, Aita VM, Christiano AM. Structural analysis reflects the evolutionary relationship between the human desmocollin gene family members. Experimental Dermatology. 10: 95-9. PMID 11260247 DOI: 10.1034/J.1600-0625.2001.010002095.X |
0.392 |
|
| 2001 |
Frank J, Cserhalmi-Friedman PB, Ahmad W, Panteleyev AA, Aita VM, Christiano AM. Characterization of the desmosomal cadherin gene family: genomic organization of two desmoglein genes on human chromosome 18q12. Experimental Dermatology. 10: 90-4. PMID 11260246 DOI: 10.1034/J.1600-0625.2001.010002090.X |
0.446 |
|
| 2001 |
Irvine AD, Christiano AM. Hair on a gene string: recent advances in understanding the molecular genetics of hair loss. Clinical and Experimental Dermatology. 26: 59-71. PMID 11260183 DOI: 10.1046/J.1365-2230.2001.00764.X |
0.345 |
|
| 2001 |
Panteleyev AA, Rosenbach T, Paus R, Christiano AM. The bulge is the source of cellular renewal in the sebaceous gland of mouse skin. Archives of Dermatological Research. 292: 573-6. PMID 11194898 DOI: 10.1007/S004030000182 |
0.302 |
|
| 2001 |
Frank J, Aita VM, Ahmad W, Lam H, Wolff C, Christiano AM. Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile. Human Heredity. 51: 160-8. PMID 11173967 DOI: 10.1159/000053337 |
0.432 |
|
| 2001 |
Cserhalmi-Friedman PB, Olson PF, Koch M, Champliaud MF, Brunken WJ, Burgeson RE, Christiano AM. Structural analysis and mutation detection strategy for the human LAMC3 gene. Biochemical and Biophysical Research Communications. 280: 39-44. PMID 11162474 DOI: 10.1006/Bbrc.2000.4086 |
0.372 |
|
| 2001 |
Cserhalmi-Friedman PB, Tang Y, Adler A, Krey L, Grifo JA, Christiano AM. Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa. Experimental Dermatology. 9: 290-7. PMID 10949552 DOI: 10.1034/J.1600-0625.2000.009004290.X |
0.42 |
|
| 2001 |
Aita VM, Christiano AM. The genetics of alopecia areata Dermatologic Therapy. 14: 329-339. DOI: 10.1046/J.1529-8019.2001.01041.X |
0.302 |
|
| 2000 |
Packer AI, Jane-Wit D, McLean L, Panteleyev AA, Christiano AM, Wolgemuth DJ. Hoxa4 expression in developing mouse hair follicles and skin. Mechanisms of Development. 99: 153-7. PMID 11091084 DOI: 10.1016/S0925-4773(00)00471-8 |
0.334 |
|
| 2000 |
Panteleyev AA, Paus R, Christiano AM. Patterns of hairless (hr) gene expression in mouse hair follicle morphogenesis and cycling. The American Journal of Pathology. 157: 1071-9. PMID 11021810 DOI: 10.1016/S0002-9440(10)64621-4 |
0.399 |
|
| 2000 |
Warmuth I, Cserhalmi-Friedman PB, Schneiderman P, Grossman ME, Christiano AM. Epidermolytic palmoplantar keratoderma in a Hispanic kindred resulting from a mutation in the keratin 9 gene. Clinical and Experimental Dermatology. 25: 244-6. PMID 10844507 DOI: 10.1046/J.1365-2230.2000.00626.X |
0.41 |
|
| 2000 |
Cserhalmi-Friedman PB, Squeo R, Gordon D, Garzon M, Schneiderman P, Grossman ME, Christiano AM. Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 gene. Clinical and Experimental Dermatology. 25: 241-3. PMID 10844506 DOI: 10.1046/J.1365-2230.2000.00625.X |
0.393 |
|
| 2000 |
Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J. Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proceedings of the National Academy of Sciences of the United States of America. 97: 6001-6. PMID 10811882 DOI: 10.1073/Pnas.100041297 |
0.44 |
|
| 2000 |
Aita VM, Ahmad W, Panteleyev AA, Kozlowska U, Kozlowska A, Gilliam TC, Jablonska S, Christiano AM. A novel missense mutation (C622G) in the zinc-finger domain of the human hairless gene associated with congenital atrichia with papular lesions. Experimental Dermatology. 9: 157-62. PMID 10772391 DOI: 10.1034/J.1600-0625.2000.009002157.X |
0.44 |
|
| 2000 |
Panteleyev AA, Christiano AM, O'Brien TG, Sundberg JP. Ornithine decarboxylase transgenic mice as a model for human atrichia with papular lesions Experimental Dermatology. 9: 146-151. PMID 10772389 DOI: 10.1034/J.1600-0625.2000.009002146.X |
0.352 |
|
| 2000 |
Michael EJ, Schneiderman P, Grossman ME, Christiano AM. Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene. Experimental Dermatology. 8: 501-3. PMID 10597140 DOI: 10.1111/J.1600-0625.1999.Tb00309.X |
0.394 |
|
| 2000 |
Blume-Peytavi U, Adler YD, Geilen CC, Ahmad W, Christiano A, Goerdt S, Orfanos CE. Multiple familial cutaneous glomangioma: a pedigree of 4 generations and critical analysis of histologic and genetic differences of glomus tumors. Journal of the American Academy of Dermatology. 42: 633-639. DOI: 10.1067/Mjd.2000.103810 |
0.326 |
|
| 1999 |
Ahmad W, Panteleyev AA, Christiano AM. The molecular basis of congenital atrichia in humans and mice: mutations in the hairless gene. The Journal of Investigative Dermatology. Symposium Proceedings / the Society For Investigative Dermatology, Inc. [and] European Society For Dermatological Research. 4: 240-3. PMID 10674375 DOI: 10.1038/Sj.Jidsp.5640220 |
0.483 |
|
| 1999 |
Green KJ, Guy SG, Cserhalmi-Friedman PB, McLean WH, Christiano AM, Wagner RM. Analysis of the desmoplakin gene reveals striking conservation with other members of the plakin family of cytolinkers. Experimental Dermatology. 8: 462-70. PMID 10597135 DOI: 10.1111/J.1600-0625.1999.Tb00304.X |
0.396 |
|
| 1999 |
Aita VM, Christiano AM, Gilliam TC. Mapping complex traits in diseases of the hair and skin. Experimental Dermatology. 8: 439-52. PMID 10597133 DOI: 10.1111/J.1600-0625.1999.Tb00302.X |
0.325 |
|
| 1999 |
Ahmad W, Nomura K, McGrath JA, Hashimoto I, Christiano AM. A homozygous nonsense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia. The Journal of Investigative Dermatology. 113: 281-3. PMID 10469319 DOI: 10.1046/J.1523-1747.1999.00686.X |
0.407 |
|
| 1999 |
Frank J, McGrath JA, Poh-Fitzpatrick MB, Hawk JL, Christiano AM. Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria. Clinical and Experimental Dermatology. 24: 296-301. PMID 10457135 DOI: 10.1046/J.1365-2230.1999.00484.X |
0.412 |
|
| 1999 |
Panteleyev AA, Botchkareva NV, Sundberg JP, Christiano AM, Paus R. The role of the hairless (hr) gene in the regulation of hair follicle catagen transformation. The American Journal of Pathology. 155: 159-71. PMID 10393848 DOI: 10.1016/S0002-9440(10)65110-3 |
0.392 |
|
| 1999 |
Frank J, Christiano AM. The genetic bases of the porphyrias. Skin Pharmacology and Applied Skin Physiology. 11: 297-309. PMID 10343201 DOI: 10.1159/000029853 |
0.334 |
|
| 1999 |
Cserhalmi-Friedman PB, Grossman J, Karpati S, Ahmad W, Horvath A, Christiano AM. Identification of a de novo glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa. Experimental Dermatology. 8: 143-5. PMID 10232407 DOI: 10.1111/J.1600-0625.1999.Tb00363.X |
0.41 |
|
| 1999 |
Tok J, Garzon MC, Cserhalmi-Friedman P, Lam HM, Spitz JL, Christiano AM. Identification of mutations in the transglutaminase 1 gene in lamellar ichthyosis. Experimental Dermatology. 8: 128-33. PMID 10232404 DOI: 10.1111/J.1600-0625.1999.Tb00360.X |
0.401 |
|
| 1999 |
Ahmad W, Zlotogorski A, Panteleyev AA, Lam H, Ahmad M, Faiyaz ul Haque M, Abdallah HM, Dragan L, Christiano AM. Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family. Genomics. 56: 141-8. PMID 10051399 DOI: 10.1006/Geno.1998.5699 |
0.474 |
|
| 1999 |
Ahmad W, Panteleyev AA, Henson-Apollonio V, Sundberg JP, Christiano AM. Molecular basis of a novel rhino (hr(rhChr)) phenotype: a nonsense mutation in the mouse hairless gene. Experimental Dermatology. 7: 298-301. PMID 9832318 DOI: 10.1111/J.1600-0625.1998.Tb00300.X-I1 |
0.438 |
|
| 1999 |
Panteleyev AA, Ahmad W, Malashenko AM, Ignatieva EL, Paus R, Sundberg JP, Christiano AM. Molecular basis for the rhino Yurlovo (hr(rhY)) phenotype: severe skin abnormalities and female reproductive defects associated with an insertion in the hairless gene. Experimental Dermatology. 7: 281-8. PMID 9832316 DOI: 10.1111/J.1600-0625.1998.Tb00298.X-I1 |
0.451 |
|
| 1999 |
Panteleyev AA, Paus R, Ahmad W, Sundberg JP, Christiano AM. Molecular and functional aspects of the hairless (hr) gene in laboratory rodents and humans. Experimental Dermatology. 7: 249-67. PMID 9832313 DOI: 10.1111/J.1600-0625.1998.Tb00295.X-I1 |
0.446 |
|
| 1999 |
Frank J, Jugert FK, Breitkopf C, Goerz G, Merk HF, Christiano AM. Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria. American Journal of Medical Genetics. 79: 22-6. PMID 9738863 DOI: 10.1002/(Sici)1096-8628(19980827)79:1<22::Aid-Ajmg6>3.0.Co;2-K |
0.439 |
|
| 1998 |
Rouan F, Pulkkinen L, Jonkman MF, Bauer JW, Cserhalmi-Friedman PB, Christiano AM, Uitto J. Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling. The Journal of Investigative Dermatology. 111: 1210-3. PMID 9856843 DOI: 10.1046/J.1523-1747.1998.00422.X |
0.421 |
|
| 1998 |
Zlotogorski A, Ahmad W, Christiano AM. Congenital atrichia in five Arab Palestinian families resulting from a deletion mutation in the human hairless gene. Human Genetics. 103: 400-4. PMID 9856480 DOI: 10.1007/S004390050840 |
0.472 |
|
| 1998 |
Ahmad W, Panteleyev AA, Sundberg JP, Christiano AM. Molecular basis for the rhino (hr(rh-8J)) phenotype: A nonsense mutation in the mouse hairless gene Genomics. 53: 383-386. PMID 9799606 DOI: 10.1006/Geno.1998.5495 |
0.451 |
|
| 1998 |
Frank J, Poh-Fitzpatrick MB, King LE, Christiano AM. The genetic basis of "Scarsdale Gourmet Diet" variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene. Archives of Dermatological Research. 290: 441-5. PMID 9763307 DOI: 10.1007/S004030050333 |
0.447 |
|
| 1998 |
Ahmad W, Irvine AD, Lam H, Buckley C, Bingham EA, Panteleyev AA, Ahmad M, McGrath JA, Christiano AM. A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers. American Journal of Human Genetics. 63: 984-91. PMID 9758627 DOI: 10.1086/302069 |
0.468 |
|
| 1998 |
Akiyama M, Christiano AM, Yoneda K, Shimizu H. Abnormal cornified cell envelope formation in mutilating palmoplantar keratoderma unrelated to epidermal differentiation complex. The Journal of Investigative Dermatology. 111: 133-8. PMID 9665400 DOI: 10.1046/J.1523-1747.1998.00230.X |
0.347 |
|
| 1998 |
Cserhalmi-Friedman PB, Baden H, Burgeson RE, Christiano AM. Molecular basis of non-lethal junctional epidermolysis bullosa: identification of a 38 basepair insertion and a splice site mutation in exon 14 of the LAMB3 gene. Experimental Dermatology. 7: 105-11. PMID 9583749 DOI: 10.1111/J.1600-0625.1998.Tb00309.X |
0.44 |
|
| 1998 |
Frank J, Lam H, Zaider E, Poh-Fitzpatrick M, Christiano AM. Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene. Journal of Medical Genetics. 35: 244-7. PMID 9541112 DOI: 10.1136/Jmg.35.3.244 |
0.454 |
|
| 1998 |
Frank J, McGrath J, Lam H, Graham RM, Hawk JL, Christiano AM. Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband. The Journal of Investigative Dermatology. 110: 452-5. PMID 9540991 DOI: 10.1046/J.1523-1747.1998.00148.X |
0.431 |
|
| 1998 |
Frank J, Jugert FK, Kalka K, Goerz G, Merk HF, Christiano AM. Variegate porphyria: identification of a nonsense mutation in the protoporphyrinogen oxidase gene. The Journal of Investigative Dermatology. 110: 449-51. PMID 9540990 DOI: 10.1046/J.1523-1747.1998.00147.X |
0.424 |
|
| 1998 |
Ahmad W, Brancolini V, Ul Haque MF, Lam H, Ul Haque S, Haider M, Maimon A, Aita VM, Owen J, Brown D, Zegarelli DJ, Ahmad M, Ott J, Christiano AM. A locus for autosomal recessive hypodontia with associated dental anomalies maps to chromosome 16q12.1 [2] American Journal of Human Genetics. 62: 987-991. PMID 9529357 DOI: 10.1086/301799 |
0.303 |
|
| 1998 |
Ahmad W, Ul Haque MF, Brancolini V, Tsou HC, Ul Haque S, Lam H, Aita VM, Owen J, DeBlaquiere M, Frank J, Cserhalmi-Friedman PB, Leask A, McGrath JA, Peacocke M, Ahmad M, ... ... Christiano AM, et al. Alopecia universalis associated with a mutation in the human hairless gene Science. 279: 720-724. PMID 9445480 DOI: 10.1126/Science.279.5351.720 |
0.327 |
|
| 1998 |
Cserhalmi-Friedman PB, Karpati S, Horvath A, Christiano AM. Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa. Archives of Dermatological Research. 289: 640-5. PMID 9444387 DOI: 10.1007/S004030050253 |
0.424 |
|
| 1998 |
Cserhalmi-Friedman PB, Karpati S, Horvath A, Christiano AM. Identification of the glycine-to-arginine substitution G2043R in type VII collagen in a family with dominant dystrophic epidermolysis bullosa from Hungary. Experimental Dermatology. 6: 303-7. PMID 9412818 DOI: 10.1111/J.1600-0625.1997.Tb00177.X |
0.367 |
|
| 1998 |
Jugert FK, Frank J, Nelson J, Wang X, Kalka K, Goerz G, Merk HF, Poh-Fitzpatrick MB, Christiano AM. Molecular heterogeneity in erythropoietic protoporphyria: 10 mutations in the ferrochelatase gene Journal of Dermatological Science. 16: S226. DOI: 10.1016/S0923-1811(98)84352-1 |
0.415 |
|
| 1998 |
Merk HF, Frank J, Jugert FK, Kalka K, Goerz G, Poh-Fitzpatrick MB, Christiano AM. Variegate porphyria: Identification of 10 novel mutations in the protoporphyrinogen oxidase gene Journal of Dermatological Science. 16: S226. DOI: 10.1016/S0923-1811(98)84349-1 |
0.424 |
|
| 1998 |
Wang X, Kurtz L, Bloomer J, Christiano A, Poh-Fitzpatrick M. Haplotype analysis in four families with an exon skipping mutation in the ferrochelatase gene Journal of Dermatological Science. 16: S147. DOI: 10.1016/s0923-1811(98)83876-0 |
0.304 |
|
| 1998 |
Lam H, Frank J, Wang X, Aita VM, Jugert FK, Kalka K, Goerz G, Merk HF, Christiano AM, Poh-Fitzpatrick MB. Congenital erythropoietic porphyria: C73R is a hotspot mutation in the uroporphyrinogen III synthase gene Journal of Dermatological Science. 16: S143. DOI: 10.1016/S0923-1811(98)83856-5 |
0.383 |
|
| 1998 |
Christiano A, ul Haque M, Brancolini V, ul Haque S, Lam H, Alta V, Frank J, Cserhalmi-Friedman P, Leask A, McGrath J, Ahmad M, Otti J, Ahmad W. Molecular basis of alopecia universalis: Positional-candidate cloning of the human hairless gene and identification of a mutation Journal of Dermatological Science. 16: S28. DOI: 10.1016/S0923-1811(98)83166-6 |
0.423 |
|
| 1998 |
Frank J, Cserhalmi-Friedman P, Paller A, Romero R, Dietz H, Christiano A. Restoration of open reading frame due to skipping of an exon with an internal deletion in the COL7A1 gene Journal of Dermatological Science. 16: S9. DOI: 10.1016/S0923-1811(98)83054-5 |
0.358 |
|
| 1998 |
Uitto J, Christiano AM. The Dystrophic Forms of Epidermolysis Bullosa Seminars in Dermatology. 12: 729-734. DOI: 10.1007/978-1-59259-726-0_78 |
0.349 |
|
| 1997 |
Christiano AM, Fine JD, Uitto J. Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: a splice site mutation in the type VII collagen gene. The Journal of Investigative Dermatology. 109: 811-4. PMID 9406826 DOI: 10.1111/1523-1747.ep12341013 |
0.303 |
|
| 1997 |
Wang X, Piomelli S, Peacocke M, Christiano AM, Poh-Fitzpatrick MB. Erythropoietic protoporphyria: four novel frameshift mutations in the ferrochelatase gene. The Journal of Investigative Dermatology. 109: 688-91. PMID 9347801 DOI: 10.1111/1523-1747.Ep12338217 |
0.421 |
|
| 1997 |
Tsou HC, Teng DH, Ping XL, Brancolini V, Davis T, Hu R, Xie XX, Gruener AC, Schrager CA, Christiano AM, Eng C, Steck P, Ott J, Tavtigian SV, Peacocke M. The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases. American Journal of Human Genetics. 61: 1036-43. PMID 9345101 DOI: 10.1086/301607 |
0.376 |
|
| 1997 |
Burgeson RE, Christiano AM. The dermal-epidermal junction. Current Opinion in Cell Biology. 9: 651-8. PMID 9330868 DOI: 10.1016/S0955-0674(97)80118-4 |
0.396 |
|
| 1997 |
Hovnanian A, Rochat A, Bodemer C, Petit E, Rivers CA, Prost C, Fraitag S, Christiano AM, Uitto J, Lathrop M, Barrandon Y, De Prost Y. Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation American Journal of Human Genetics. 61: 599-610. PMID 9326325 DOI: 10.1086/515495 |
0.424 |
|
| 1997 |
Ishida-Yamamoto A, McGrath JA, Lam H, Iizuka H, Friedman RA, Christiano AM. The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope. American Journal of Human Genetics. 61: 581-9. PMID 9326323 DOI: 10.1086/515518 |
0.398 |
|
| 1997 |
Mellerio JE, Dunnill MG, Allison W, Ashton GH, Christiano AM, Uitto J, Eady RA, McGrath JA. Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa. The Journal of Investigative Dermatology. 109: 246-9. PMID 9242516 DOI: 10.1111/1523-1747.Ep12319792 |
0.418 |
|
| 1997 |
Pulkkinen L, Meneguzzi G, McGrath JA, Xu Y, Blanchet-Bardon C, Ortonne JP, Christiano AM, Uitto J. Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy. The Journal of Investigative Dermatology. 109: 232-7. PMID 9242513 DOI: 10.1111/1523-1747.Ep12319752 |
0.402 |
|
| 1997 |
Cserhalmi PB, Horvath A, Boros V, Sapi Z, Kormendi M, Christiano AM, Karpati S. Identification of the LAMB3 hotspot mutation R635X in a Hungarian case of Herlitz junctional epidermolysis bullosa. Experimental Dermatology. 6: 70-4. PMID 9209887 DOI: 10.1111/J.1600-0625.1997.Tb00149.X |
0.426 |
|
| 1997 |
Christiano AM. Frontiers in keratodermas: pushing the envelope. Trends in Genetics : Tig. 13: 227-33. PMID 9196328 DOI: 10.1016/S0168-9525(97)01104-9 |
0.343 |
|
| 1997 |
Shimizu H, Takizawa Y, McGrath JA, Pulkkinen L, Christiano AM, Uitto J, Burgeson RE, Iwatsuki K, Niimi N, Noguchi M, Imayama S, Abe Y, Shirakata Y, Hagiwara S, Saida T, et al. Absence of R42X and R635X mutations in the LAMB3 gene in 12 Japanese patients with junctional epidermolysis bullosa. Archives of Dermatological Research. 289: 174-6. PMID 9128767 DOI: 10.1007/s004030050175 |
0.301 |
|
| 1997 |
Darling TN, McGrath JA, Yee C, Gatalica B, Hametner R, Bauer JW, Pohla-Gubo G, Christiano AM, Uitto J, Hintner H, Yancey KB. Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/ Type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa Journal of Investigative Dermatology. 108: 463-468. PMID 9077475 DOI: 10.1111/1523-1747.ep12289718 |
0.307 |
|
| 1997 |
McGrath JA, Hawk JL, Graham RM, Christiano AM. Lack of the R59W South African founder effect mutation in protoporphyrinogen oxidase in a British patient with homozygous variegate porphyria. The British Journal of Dermatology. 136: 292. PMID 9068758 DOI: 10.1111/J.1365-2133.1997.Tb14923.X |
0.341 |
|
| 1997 |
Lam H, Dragan L, Tsou HC, Merk H, Peacocke M, Goerz G, Sassa S, Poh-Fitzpatrick M, Bickers DR, Christiano AM. Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene. Human Genetics. 99: 126-9. PMID 9003509 DOI: 10.1007/S004390050325 |
0.456 |
|
| 1997 |
Ashton G, Mellerio J, Dunnill M, Pulkkinen L, Christiano A, Uitto J, Eady R, McGrath J. A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allele British Journal of Dermatology. 136: 674-677. DOI: 10.1046/J.1365-2133.1997.6541616.X |
0.425 |
|
| 1996 |
Ryan MC, Christiano AM, Engvall E, Wewer UM, Miner JH, Sanes JR, Burgeson RE. The functions of laminins: lessons from in vivo studies. Matrix Biology : Journal of the International Society For Matrix Biology. 15: 369-81. PMID 9049976 DOI: 10.1016/S0945-053X(96)90157-2 |
0.405 |
|
| 1996 |
Kivirikko S, McGrath JA, Pulkkinen L, Uitto J, Christiano AM. Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. Human Molecular Genetics. 5: 231-7. PMID 8824879 DOI: 10.1093/hmg/5.2.231 |
0.311 |
|
| 1996 |
Christiano AM, Bart BJ, Epstein EH, Uitto J. Genetic Basis Of Bart'S Syndrome : A Glycine Substitution Mutation In The Type Vii Collagen Gene Journal of Investigative Dermatology. 106: 1340-1342. PMID 8752681 DOI: 10.1111/1523-1747.Ep12349293 |
0.422 |
|
| 1996 |
McLean WH, Pulkkinen L, Smith FJ, Rugg EL, Lane EB, Bullrich F, Burgeson RE, Amano S, Hudson DL, Owaribe K, McGrath JA, McMillan JR, Eady RA, Leigh IM, Christiano AM, et al. Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. Genes & Development. 10: 1724-35. PMID 8698233 DOI: 10.1101/Gad.10.14.1724 |
0.427 |
|
| 1996 |
Maestrini E, Monaco AP, McGrath JA, Ishida-Yamamoto A, Camisa C, Hovnanian A, Weeks DE, Lathrop M, Uitto J, Christiano AM. A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. Nature Genetics. 13: 70-7. PMID 8673107 DOI: 10.1038/Ng0596-70 |
0.412 |
|
| 1996 |
McGarth JA, Christiano AM, Pulkkinen L, Eady RA, Uitto J. Compound heterozygosity for nonsense ans missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa. The Journal of Investigative Dermatology. 106: 1157-9. PMID 8618058 DOI: 10.1111/1523-1747.ep12340210 |
0.333 |
|
| 1996 |
McGrath JA, Kivirikko S, Ciatti S, Moss C, Christiano AM, Uitto J. A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect. The Journal of Investigative Dermatology. 106: 781-4. PMID 8618022 DOI: 10.1111/1523-1747.ep12346349 |
0.313 |
|
| 1996 |
Christiano AM, Bart BJ, Epstein EH, Uitto J. Genetic basis of Bart's syndrome: a glycine substitution mutation in type VII collagen gene. The Journal of Investigative Dermatology. 106: 778-80. PMID 8618021 DOI: 10.1111/1523-1747.ep12346304 |
0.308 |
|
| 1996 |
Christiano AM, Pulkkinen L, Eady RA, Uitto J. Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa. The Journal of Investigative Dermatology. 106: 775-7. PMID 8618020 DOI: 10.1111/1523-1747.ep12346246 |
0.331 |
|
| 1996 |
McGrath JA, Darling T, Gatalica B, Pohla-Gubo G, Hintner H, Christiano AM, Yancey K, Uitto J. A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa. The Journal of Investigative Dermatology. 106: 771-4. PMID 8618019 DOI: 10.1111/1523-1747.ep12345821 |
0.308 |
|
| 1996 |
Shimizu H, McGrath JA, Christiano AM, Nishikawa T, Uitto J. Molecular basis of recessive dystrophic epidermolysis bullosa: Genotype/phenotype correlation in a case of moderate clinical severity Journal of Investigative Dermatology. 106: 119-124. PMID 8592061 DOI: 10.1111/1523-1747.ep12329600 |
0.316 |
|
| 1996 |
McGrath JA, Kivirikko S, Ciatti S, Moss C, Dunnill GS, Eady RA, Rodeck CH, Christiano AM, Uitto J. A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk. Genomics. 29: 282-4. PMID 8530087 DOI: 10.1006/Geno.1995.1246 |
0.409 |
|
| 1996 |
Christiano AM, Bart BJ, Epstein EH, Uitto J. “Correction to: Genetic Basis of Bart's Syndrome: A Glycine Substitution Mutation in the Type VII Collagen Gene” Journal of Investigative Dermatology. 106: 1339. DOI: 10.1111/1523-1747.Ep12349288 |
0.338 |
|
| 1995 |
Olson TM, Michels VV, Urban Z, Csiszar K, Christiano AM, Driscoll DJ, Feldt RH, Boyd CD, Thibodeau SN. A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis. Human Molecular Genetics. 4: 1677-9. PMID 8541862 DOI: 10.1093/Hmg/4.9.1677 |
0.336 |
|
| 1995 |
Christiano AM, Lee JY, Chen WJ, LaForgia S, Uitto J. Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen. Human Molecular Genetics. 4: 1579-83. PMID 8541842 DOI: 10.1093/Hmg/4.9.1579 |
0.439 |
|
| 1995 |
Christiano AM, Suga Y, Greenspan DS, Ogawa H, Uitto J. Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa. The Journal of Clinical Investigation. 95: 1328-34. PMID 7883979 DOI: 10.1172/JCI117783 |
0.322 |
|
| 1995 |
Vailly J, Pulkkinen L, Christiano AM, Tryggvason K, Uitto J, Ortonne JP, Meneguzzi G. Identification of a homozygous exon-skipping mutation in the LAMC2 gene in a patient with Herlitz's junctional epidermolysis bullosa. The Journal of Investigative Dermatology. 104: 434-7. PMID 7861013 DOI: 10.1111/1523-1747.ep12666027 |
0.307 |
|
| 1995 |
Baudoin C, Miquel C, Gagnoux-Palacios L, Pulkkinen L, Christiano AM, Uitto J, Tadini G, Ortonne JP, Meneguzzi G. A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa. Human Molecular Genetics. 3: 1909-10. PMID 7849725 DOI: 10.1093/hmg/3.10.1909 |
0.308 |
|
| 1995 |
Uitto J, Christiano AM. Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene. Archives of Dermatological Research. 287: 16-22. PMID 7726631 DOI: 10.1007/BF00370713 |
0.318 |
|
| 1995 |
Vailly J, Pulkkinen L, Miquel C, Christiano AM, Gerecke D, Burgeson RE, Uitto J, Ortonne JP, Meneguzzi G. Identification of a homozygous one-basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence. The Journal of Investigative Dermatology. 104: 462-6. PMID 7706759 DOI: 10.1111/1523-1747.ep12605898 |
0.308 |
|
| 1995 |
Kivirikko S, McGrath JA, Baudoin C, Aberdam D, Ciatti S, Dunnill MGS, McMillan JR, Eady RAJ, Ortonne J, Meneguzzi G, Ultto J, Christiano AM. A homozygous nonsense mutation in the α3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa Human Molecular Genetics. 4: 959-962. PMID 7633458 DOI: 10.1093/Hmg/4.5.959 |
0.451 |
|
| 1995 |
McGrath JA, Gatalica B, Christiano AM, Li K, Owaribe K, McMillan JR, Eady RA, Uitto J. Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. Nature Genetics. 11: 83-6. PMID 7550320 DOI: 10.1038/ng0995-83 |
0.343 |
|
| 1995 |
Pulkkinen L, McGrath JA, Christiano AM, Uitto J. Detection of sequence variants in the gene encoding the β3 chain of laminin 5 (LAMB3) Human Mutation. 6: 77-84. PMID 7550237 DOI: 10.1002/Humu.1380060115 |
0.38 |
|
| 1995 |
Anton-Lamprecht I, McGrath JA, Christiano AM, Uitto J. Mutations in the laminin 5 LAMB3 gene in generalized atrophic benign epidermolysis bullosa [3] Journal of Investigative Dermatology. 105: 856-857. PMID 7490484 DOI: 10.1111/1523-1747.Ep12326697 |
0.42 |
|
| 1994 |
Lebwohl M, Neldner K, Pope FM, De Paepe A, Christiano AM, Boyd CD, Uitto J, McKusick VA. Classification of pseudoxanthoma elasticum: report of a consensus conference. Journal of the American Academy of Dermatology. 30: 103-7. PMID 8277008 DOI: 10.1016/S0190-9622(08)81894-4 |
0.344 |
|
| 1994 |
Christiano AM, Ryynänen M, Uitto J. Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen. Proceedings of the National Academy of Sciences of the United States of America. 91: 3549-53. PMID 8170945 DOI: 10.1073/pnas.91.9.3549 |
0.328 |
|
| 1994 |
Christiano AM, Hoffman GG, Chung-Honet LC, Lee S, Cheng W, Uitto J, Greenspan DS. Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene. Genomics. 21: 169-79. PMID 8088784 DOI: 10.1006/Geno.1994.1239 |
0.393 |
|
| 1994 |
Christiano AM, Anhalt G, Gibbons S, Bauer EA, Uitto J. Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa. Genomics. 21: 160-8. PMID 8088783 DOI: 10.1006/Geno.1994.1238 |
0.437 |
|
| 1994 |
Aberdam D, Galliano MF, Vailly J, Pulkkinen L, Bonifas J, Christiano AM, Tryggvason K, Uitto J, Epstein EH, Ortonne JP. Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5). Nature Genetics. 6: 299-304. PMID 8012394 DOI: 10.1038/ng0394-299 |
0.326 |
|
| 1994 |
Pulkkinen L, Christiano AM, Airenne T, Haakana H, Tryggvason K, Uitto J. Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa. Nature Genetics. 6: 293-7. PMID 8012393 DOI: 10.1038/ng0394-293 |
0.313 |
|
| 1994 |
Morricone A, Christiano AM, Paradisi M, Angelo C, Cavalieri R, Uitto J. A recurrent premature termination codon mutation (498insA) in the type VII collagen gene (COL7A1) in two unrelated families with recessive dystrophic epidermolysis bullosa (RDEB) in Italy Journal of Investigative Dermatology. 103: 852. DOI: 10.5555/Uri:Pii:0022202X94958769 |
0.408 |
|
| 1994 |
Hovnanian A, Hilall L, Blanchet-Bardon C, Prost Yd, Christiano A, Uitto J, Goossens M. Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa Journal of Investigative Dermatology. 103: 849. DOI: 10.5555/Uri:Pii:0022202X94958610 |
0.4 |
|
| 1994 |
Christiano AM, Suga Y, Hovnanian A, Greenspan DS, Ogawa H, Uitto J. Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three Japanese brothers with recessive dystrophic epidermolysis bullosa Journal of Investigative Dermatology. 103: 845. DOI: 10.5555/Uri:Pii:0022202X94958351 |
0.352 |
|
| 1994 |
McGrath JA, Pulkkinen L, Christiano AM, Burgeson RE, Leigh IM, Eady RAJ, Uitto J. Mutations in the LAMB3 gene in the generalized atrophic benign form of junctional epidermolysis bullosa Journal of Investigative Dermatology. 103: 434. DOI: 10.5555/Uri:Pii:0022202X94924074 |
0.417 |
|
| 1994 |
Kalinke DU, Kalinke U, Zimmermann M, Anton-Lamprechts I, Winbera JO, Christiano AM, Uitto J, Bruckner-Tuderman L. Molecular analysis of the regions of the COL7A1 gene coding for the NC-1 and NC-2 domains of collagen VII in patients with recessive epidermolysis bullosa dystrophica (REBD): A patient with rebd mutilans is a compound heterozygote carrying two mutations Journal of Investigative Dermatology. 103: 424. DOI: 10.5555/Uri:Pii:0022202X94923426 |
0.356 |
|
| 1994 |
Christiano AM, Hovnanian A, Greenspan DS, Uitto J. Heterogeneity of mutations in the type VII collagen gene (COL7A1) in different forms of dystrophic epidermolysis bullosa Matrix Biology. 14: 395. DOI: 10.1016/0945-053X(94)90122-8 |
0.405 |
|
| 1994 |
Pulkkinen L, Christiano AM, Gerecke D, Tryggavason K, Burgeson RE, Uitto J. Mutations in the laminin 5 genes (LAMB3 and LAMC2) in patients with the junctional forms of epidermolysis bullosa (JEB) Matrix Biology. 14: 393-394. DOI: 10.1016/0945-053X(94)90119-8 |
0.413 |
|
| 1993 |
Li K, Christiano AM, Copeland NG, Gilbert DJ, Chu ML, Jenkins NA, Uitto J. cDNA cloning and chromosomal mapping of the mouse type VII collagen gene (Col7a1): evidence for rapid evolutionary divergence of the gene. Genomics. 16: 733-9. PMID 8325648 DOI: 10.1006/Geno.1993.1255 |
0.368 |
|
| 1993 |
Tamai Y, Zhang X, Christiano AM, Hovnanian A, Uitto J. PCR-based detection of intragenic RFLPs in the human type VII collagen gene: Applications to prenatal diagnosis of dystrophic epidermolysis bullosa Journal of Dermatological Science. 6: 107. DOI: 10.1016/0923-1811(93)91339-V |
0.305 |
|
| 1993 |
Uitto J, Christiano AM, Chung-Honet LC, Greenspan DS. Complete characterization of the human type VII collagen gene Journal of Dermatological Science. 6: 34. DOI: 10.1016/0923-1811(93)90921-B |
0.341 |
|
| 1993 |
Christiano AM, Bauer EA, Uitto J. Characterization of mutations in the type VII collagen gene in patients with the dystrophic forms of epidermolysis bullosa Journal of Dermatological Science. 6: 17. DOI: 10.1016/0923-1811(93)90848-J |
0.406 |
|
| 1992 |
Christiano AM, Uitto J. Polymorphism of the human genome: markers for genetic linkage analyses in heritable diseases of the skin. The Journal of Investigative Dermatology. 99: 519-23. PMID 1431211 DOI: 10.1111/1523-1747.Ep12658054 |
0.301 |
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