| Year |
Citation |
Score |
| 2023 |
Leong YC, Sowden JC. Modeling Retinitis Pigmentosa with Patient-Derived iPSCs. Advances in Experimental Medicine and Biology. 1415: 555-563. PMID 37440086 DOI: 10.1007/978-3-031-27681-1_81 |
0.361 |
|
| 2022 |
Leong YC, Di Foggia V, Pramod H, Bitner-Glindzicz M, Patel A, Sowden JC. Molecular pathology of Usher 1B patient-derived retinal organoids at single cell resolution. Stem Cell Reports. 17: 2421-2437. PMID 36240775 DOI: 10.1016/j.stemcr.2022.09.006 |
0.452 |
|
| 2022 |
Rashidi H, Leong YC, Venner K, Pramod H, Fei QZ, Jones OJR, Moulding D, Sowden JC. Generation of 3D retinal tissue from human pluripotent stem cells using a directed small molecule-based serum-free microwell platform. Scientific Reports. 12: 6646. PMID 35459774 DOI: 10.1038/s41598-022-10540-1 |
0.435 |
|
| 2022 |
Nazlamova L, Cassidy EJ, Sowden JC, Lotery A, Lakowski J. Generation of a Cone Photoreceptor-specific GNGT2 Reporter Line in Human Pluripotent Stem Cells. Stem Cells (Dayton, Ohio). 40: 190-203. PMID 35293574 DOI: 10.1093/stmcls/sxab015 |
0.329 |
|
| 2021 |
Cuevas E, Holder DL, Alshehri AH, Tréguier J, Lakowski J, Sowden JC. NRL gene edited human embryonic stem cells generate rod-deficient retinal organoids enriched in S-cone-like photoreceptors. Stem Cells (Dayton, Ohio). PMID 33400844 DOI: 10.1002/stem.3325 |
0.512 |
|
| 2019 |
Cuevas E, Parmar P, Sowden JC. Restoring Vision Using Stem Cells and Transplantation. Advances in Experimental Medicine and Biology. 1185: 563-567. PMID 31884671 DOI: 10.1007/978-3-030-27378-1_92 |
0.575 |
|
| 2019 |
Lukowski SW, Lo CY, Sharov AA, Nguyen Q, Fang L, Hung SS, Zhu L, Zhang T, Grünert U, Nguyen T, Senabouth A, Jabbari JS, Welby E, Sowden JC, Waugh HS, et al. A single-cell transcriptome atlas of the adult human retina. The Embo Journal. e100811. PMID 31436334 DOI: 10.15252/Embj.2018100811 |
0.514 |
|
| 2019 |
Aldunate EZ, Di Foggia V, Di Marco F, Hervas LA, Ribeiro JC, Holder DL, Patel A, Jannini TB, Thompson DA, Martinez-Barbera JP, Pearson RA, Ali RR, Sowden JC. Conditional Dicer1 depletion using Chrnb4-Cre leads to cone cell death and impaired photopic vision. Scientific Reports. 9: 2314. PMID 30783126 DOI: 10.1038/s41598-018-38294-9 |
0.738 |
|
| 2018 |
Lakowski J, Welby E, Budinger D, Di Marco F, Di Foggia V, Bainbridge JWB, Wallace K, Gamm DM, Ali RR, Sowden JC. Isolation of Human Photoreceptor Precursors via a Cell Surface Marker Panel from Stem Cell-derived Retinal Organoids and Fetal Retinae. Stem Cells (Dayton, Ohio). PMID 29327488 DOI: 10.1002/stem.2775 |
0.657 |
|
| 2018 |
Waldron PV, Di Marco F, Kruczek K, Ribeiro J, Graca AB, Hippert C, Aghaizu ND, Kalargyrou AA, Barber AC, Grimaldi G, Duran Y, Blackford SJI, Kloc M, Goh D, Zabala Aldunate E, ... ... Sowden JC, et al. Transplanted Donor- or Stem Cell-Derived Cone Photoreceptors Can Both Integrate and Undergo Material Transfer in an Environment-Dependent Manner. Stem Cell Reports. PMID 29307580 DOI: 10.1016/J.Stemcr.2017.12.008 |
0.727 |
|
| 2017 |
Welby E, Lakowski J, Di Foggia V, Budinger D, Gonzalez-Cordero A, Lun ATL, Epstein M, Patel A, Cuevas E, Kruczek K, Naeem A, Minneci F, Hubank M, Jones DT, Marioni JC, ... ... Sowden JC, et al. Isolation and Comparative Transcriptome Analysis of Human Fetal and iPSC-Derived Cone Photoreceptor Cells. Stem Cell Reports. PMID 29153988 DOI: 10.1016/j.stemcr.2017.10.018 |
0.718 |
|
| 2017 |
Gonzalez-Cordero A, Kruczek K, Naeem A, Fernando M, Kloc M, Ribeiro J, Goh D, Duran Y, Blackford SJI, Abelleira-Hervas L, Sampson RD, Shum IO, Branch MJ, Gardner PJ, Sowden JC, et al. Recapitulation of Human Retinal Development from Human Pluripotent Stem Cells Generates Transplantable Populations of Cone Photoreceptors. Stem Cell Reports. PMID 28844659 DOI: 10.1016/J.Stemcr.2017.07.022 |
0.804 |
|
| 2017 |
Kruczek K, Gonzalez-Cordero A, Goh D, Naeem A, Jonikas M, Blackford SJI, Kloc M, Duran Y, Georgiadis A, Sampson RD, Maswood RN, Smith AJ, Decembrini S, Arsenijevic Y, Sowden JC, et al. Differentiation and Transplantation of Embryonic Stem Cell-Derived Cone Photoreceptors into a Mouse Model of End-Stage Retinal Degeneration. Stem Cell Reports. PMID 28552606 DOI: 10.1016/J.Stemcr.2017.04.030 |
0.804 |
|
| 2016 |
Pearson RA, Gonzalez-Cordero A, West EL, Ribeiro JR, Aghaizu N, Goh D, Sampson RD, Georgiadis A, Waldron PV, Duran Y, Naeem A, Kloc M, Cristante E, Kruczek K, Warre-Cornish K, ... Sowden JC, et al. Donor and host photoreceptors engage in material transfer following transplantation of post-mitotic photoreceptor precursors. Nature Communications. 7: 13029. PMID 27701378 DOI: 10.1038/Ncomms13029 |
0.779 |
|
| 2016 |
Di Foggia V, Makwana P, Ali RR, Sowden JC. Induced Pluripotent Stem Cell Therapies for Degenerative Disease of the Outer Retina: Disease Modeling and Cell Replacement. Journal of Ocular Pharmacology and Therapeutics : the Official Journal of the Association For Ocular Pharmacology and Therapeutics. PMID 27027805 DOI: 10.1089/jop.2015.0143 |
0.728 |
|
| 2015 |
Lakowski J, Gonzalez-Cordero A, West EL, Han YT, Welby E, Naeem A, Blackford SJ, Bainbridge JW, Pearson RA, Ali RR, Sowden JC. Transplantation of Photoreceptor Precursors Isolated via a Cell Surface Biomarker Panel From Embryonic Stem Cell-Derived Self-Forming Retina. Stem Cells (Dayton, Ohio). 33: 2469-82. PMID 25982268 DOI: 10.1002/stem.2051 |
0.782 |
|
| 2015 |
Sowden J. Developing stem cell therapy for retinal dystrophies. Cilia. 4: 1-1. DOI: 10.1186/2046-2530-4-S1-O19 |
0.696 |
|
| 2014 |
Sowden JC. ESC-derived retinal pigmented epithelial cell transplants in patients: so far, so good. Cell Stem Cell. 15: 537-8. PMID 25517461 DOI: 10.1016/j.stem.2014.10.008 |
0.594 |
|
| 2014 |
Warre-Cornish K, Barber AC, Sowden JC, Ali RR, Pearson RA. Migration, integration and maturation of photoreceptor precursors following transplantation in the mouse retina. Stem Cells and Development. 23: 941-54. PMID 24328605 DOI: 10.1089/Scd.2013.0471 |
0.821 |
|
| 2013 |
Gonzalez-Cordero A, West EL, Pearson RA, Duran Y, Carvalho LS, Chu CJ, Naeem A, Blackford SJ, Georgiadis A, Lakowski J, Hubank M, Smith AJ, Bainbridge JW, Sowden JC, Ali RR. Photoreceptor precursors derived from three-dimensional embryonic stem cell cultures integrate and mature within adult degenerate retina. Nature Biotechnology. 31: 741-7. PMID 23873086 DOI: 10.1038/nbt.2643 |
0.814 |
|
| 2013 |
Barber AC, Hippert C, Duran Y, West EL, Bainbridge JW, Warre-Cornish K, Luhmann UF, Lakowski J, Sowden JC, Ali RR, Pearson RA. Repair of the degenerate retina by photoreceptor transplantation. Proceedings of the National Academy of Sciences of the United States of America. 110: 354-9. PMID 23248312 DOI: 10.1073/Pnas.1212677110 |
0.801 |
|
| 2013 |
Boucherie C, Mukherjee S, Henckaerts E, Thrasher AJ, Sowden JC. Brief report: Self-organizing neuroepithelium from human pluripotent stem cells facilitates derivation of photoreceptors Stem Cells. 31: 408-414. PMID 23132794 DOI: 10.1002/stem.1268 |
0.517 |
|
| 2012 |
Lange CA, Luhmann UF, Mowat FM, Georgiadis A, West EL, Abrahams S, Sayed H, Powner MB, Fruttiger M, Smith AJ, Sowden JC, Maxwell PH, Ali RR, Bainbridge JW. Von Hippel-Lindau protein in the RPE is essential for normal ocular growth and vascular development. Development (Cambridge, England). 139: 2340-50. PMID 22627278 DOI: 10.1242/Dev.070813 |
0.566 |
|
| 2012 |
West EL, Gonzalez-Cordero A, Hippert C, Osakada F, Martinez-Barbera JP, Pearson RA, Sowden JC, Takahashi M, Ali RR. Defining the integration capacity of embryonic stem cell-derived photoreceptor precursors. Stem Cells (Dayton, Ohio). 30: 1424-35. PMID 22570183 DOI: 10.1002/Stem.1123 |
0.824 |
|
| 2012 |
Pearson RA, Barber AC, Rizzi M, Hippert C, Xue T, West EL, Duran Y, Smith AJ, Chuang JZ, Azam SA, Luhmann UF, Benucci A, Sung CH, Bainbridge JW, Carandini M, ... ... Sowden JC, et al. Restoration of vision after transplantation of photoreceptors. Nature. 485: 99-103. PMID 22522934 DOI: 10.1038/Nature10997 |
0.824 |
|
| 2012 |
West EL, Pearson RA, Duran Y, Gonzalez-Cordero A, MacLaren RE, Smith AJ, Sowden JC, Ali RR. Manipulation of the recipient retinal environment by ectopic expression of neurotrophic growth factors can improve transplanted photoreceptor integration and survival. Cell Transplantation. 21: 871-87. PMID 22325046 DOI: 10.3727/096368911X623871 |
0.826 |
|
| 2011 |
Gualdoni S, Baron M, Lakowski J, Decembrini S, Pearson RA, Ali RR, Sowden JC. Isolation and culture of adult ciliary epithelial cells, previously identified as retinal stem cells, and retinal progenitor cells. Current Protocols in Stem Cell Biology. Unit 1H.4. PMID 22135083 DOI: 10.1002/9780470151808.sc01h04s19 |
0.725 |
|
| 2011 |
Lakowski J, Han YT, Pearson RA, Gonzalez-Cordero A, West EL, Gualdoni S, Barber AC, Hubank M, Ali RR, Sowden JC. Effective transplantation of photoreceptor precursor cells selected via cell surface antigen expression. Stem Cells (Dayton, Ohio). 29: 1391-404. PMID 21774040 DOI: 10.1002/stem.694 |
0.754 |
|
| 2011 |
Boucherie C, Sowden JC, Ali RR. Induced pluripotent stem cell technology for generating photoreceptors. Regenerative Medicine. 6: 469-79. PMID 21749205 DOI: 10.2217/rme.11.37 |
0.65 |
|
| 2011 |
Ali RR, Sowden JC. Regenerative medicine: DIY eye. Nature. 472: 42-3. PMID 21475187 DOI: 10.1038/472042a |
0.477 |
|
| 2011 |
Decembrini S, Cananzi M, Gualdoni S, Battersby A, Allen N, Pearson RA, Ali RR, De Coppi P, Sowden JC. Comparative analysis of the retinal potential of embryonic stem cells and amniotic fluid-derived stem cells. Stem Cells and Development. 20: 851-63. PMID 20939691 DOI: 10.1089/scd.2010.0291 |
0.74 |
|
| 2011 |
Sowden JC, Ali RR. Stem cell therapy for blindness: new developments and implications for the future Expert Review of Ophthalmology. 6: 1-3. DOI: 10.1586/eop.10.86 |
0.552 |
|
| 2010 |
West EL, Pearson RA, Barker SE, Luhmann UF, Maclaren RE, Barber AC, Duran Y, Smith AJ, Sowden JC, Ali RR. Long-term survival of photoreceptors transplanted into the adult murine neural retina requires immune modulation. Stem Cells (Dayton, Ohio). 28: 1997-2007. PMID 20857496 DOI: 10.1002/stem.520 |
0.843 |
|
| 2010 |
Gualdoni S, Baron M, Lakowski J, Decembrini S, Smith AJ, Pearson RA, Ali RR, Sowden JC. Adult ciliary epithelial cells, previously identified as retinal stem cells with potential for retinal repair, fail to differentiate into new rod photoreceptors. Stem Cells (Dayton, Ohio). 28: 1048-59. PMID 20506130 DOI: 10.1002/stem.423 |
0.774 |
|
| 2010 |
Pearson RA, Barber AC, West EL, MacLaren RE, Duran Y, Bainbridge JW, Sowden JC, Ali RR. Targeted disruption of outer limiting membrane junctional proteins (Crb1 and ZO-1) increases integration of transplanted photoreceptor precursors into the adult wild-type and degenerating retina. Cell Transplantation. 19: 487-503. PMID 20089206 DOI: 10.3727/096368909X486057 |
0.817 |
|
| 2009 |
West EL, Pearson RA, MacLaren RE, Sowden JC, Ali RR. Cell transplantation strategies for retinal repair. Progress in Brain Research. 175: 3-21. PMID 19660645 DOI: 10.1016/S0079-6123(09)17501-5 |
0.82 |
|
| 2009 |
Barber A, Bainbridge J, Sowden J, Ali R, Pearson R. 14-P021 The role of gliosis and extracellular matrix proteins in rod photoreceptor precursor transplantation in the degenerating retina Mechanisms of Development. 126: S245. DOI: 10.1016/j.mod.2009.06.640 |
0.451 |
|
| 2007 |
MacNeil A, Pearson RA, MacLaren RE, Smith AJ, Sowden JC, Ali RR. Comparative analysis of progenitor cells isolated from the iris, pars plana, and ciliary body of the adult porcine eye. Stem Cells (Dayton, Ohio). 25: 2430-8. PMID 17600111 DOI: 10.1634/stemcells.2007-0035 |
0.743 |
|
| 2006 |
Dhomen NS, Balaggan KS, Pearson RA, Bainbridge JW, Levine EM, Ali RR, Sowden JC. Absence of chx10 causes neural progenitors to persist in the adult retina. Investigative Ophthalmology & Visual Science. 47: 386-96. PMID 16384989 DOI: 10.1167/Iovs.05-0428 |
0.679 |
|
| 2004 |
Rutherford AD, Dhomen N, Smith HK, Sowden JC. Delayed expression of the Crx gene and photoreceptor development in the Chx10-deficient retina. Investigative Ophthalmology & Visual Science. 45: 375-84. PMID 14744875 DOI: 10.1167/iovs.03-0332 |
0.356 |
|
| 2003 |
Ali RR, Sowden JC. Therapy may yet stem from cells in the retina. The British Journal of Ophthalmology. 87: 1058-9. PMID 12928264 DOI: 10.1136/bjo.87.9.1058 |
0.607 |
|
| 2001 |
Bibb LC, Holt JK, Tarttelin EE, Hodges MD, Gregory-Evans K, Rutherford A, Lucas RJ, Sowden JC, Gregory-Evans CY. Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye development. Human Molecular Genetics. 10: 1571-9. PMID 11468275 DOI: 10.1093/HMG/10.15.1571 |
0.305 |
|
| 2000 |
Grayson C, Reid SNM, Ellis JA, Rutherford A, Sowden JC, Yates JRW, Farber DB, Trump D. Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells Human Molecular Genetics. 9: 1873-1879. PMID 10915776 DOI: 10.1093/Hmg/9.12.1873 |
0.305 |
|
| 1992 |
Sowden J, Edwards M, Morrison K, Butterworth PHW, Edwards YH. Erythroid expression and DNAaseI-hypersensitive sites of the carbonic anhydrase 1 gene. Biochemical Journal. 288: 545-551. PMID 1463458 DOI: 10.1042/Bj2880545 |
0.334 |
|
| Low-probability matches (unlikely to be authored by this person) |
| 2012 |
Prasov L, Masud T, Khaliq S, Mehdi SQ, Abid A, Oliver ER, Silva ED, Lewanda A, Brodsky MC, Borchert M, Kelberman D, Sowden JC, Dattani MT, Glaser T. ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous. Human Molecular Genetics. 21: 3681-94. PMID 22645276 DOI: 10.1093/Hmg/Dds197 |
0.296 |
|
| 2020 |
Constable PA, Ritvo ER, Ritvo AR, Lee IO, McNair ML, Stahl D, Sowden J, Quinn S, Skuse DH, Thompson DA, McPartland JC. Light-Adapted Electroretinogram Differences in Autism Spectrum Disorder. Journal of Autism and Developmental Disorders. PMID 32034650 DOI: 10.1007/S10803-020-04396-5 |
0.283 |
|
| 2020 |
Patel A, Anderson G, Galea G, Balys M, Sowden JC. A molecular and cellular analysis of human embryonic optic fissure closure related to the eye malformation coloboma. Development (Cambridge, England). PMID 33158926 DOI: 10.1242/dev.193649 |
0.271 |
|
| 1998 |
Sowden J, Smith H, Morrison K, Edwards Y. Sequence comparisons and functional studies of the proximal promoter of the carbonic anhydrase 3 (CA3) gene. Gene. 214: 157-165. PMID 9651514 DOI: 10.1016/S0378-1119(98)00201-7 |
0.271 |
|
| 2003 |
Chau KY, Manfioletti G, Cheung-Chau KW, Fusco A, Dhomen N, Sowden JC, Sasabe T, Mukai S, Ono SJ. Derepression of HMGA2 gene expression in retinoblastoma is associated with cell proliferation. Molecular Medicine (Cambridge, Mass.). 9: 154-65. PMID 14571323 |
0.27 |
|
| 2001 |
Gouge A, Holt J, Hardy AP, Sowden JC, Smith HK. Foxn4--a new member of the forkhead gene family is expressed in the retina. Mechanisms of Development. 107: 203-6. PMID 11520680 DOI: 10.1016/S0925-4773(01)00465-8 |
0.266 |
|
| 1993 |
Sowden J, Leigh S, Talbot I, Delhanty J, Edwards Y. Expression From The Proximal Promoter Of The Carbonic Anhydrase-1 Gene As A Marker For Differentiation In Colon Epithelia Differentiation. 53: 67-74. PMID 8359594 DOI: 10.1111/J.1432-0436.1993.Tb00647.X |
0.263 |
|
| 2000 |
Ferda Percin E, Ploder LA, Yu JJ, Arici K, Horsford DJ, Rutherford A, Bapat B, Cox DW, Duncan AM, Kalnins VI, Kocak-Altintas A, Sowden JC, Traboulsi E, Sarfarazi M, McInnes RR. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nature Genetics. 25: 397-401. PMID 10932181 DOI: 10.1038/78071 |
0.261 |
|
| 2009 |
Behesti H, Papaioannou VE, Sowden JC. Loss of Tbx2 delays optic vesicle invagination leading to small optic cups. Developmental Biology. 333: 360-72. PMID 19576202 DOI: 10.1016/j.ydbio.2009.06.026 |
0.261 |
|
| 2022 |
Wawrzynski J, Patel A, Badran A, Dowell I, Henderson R, Sowden JC. Spectrum of Mutations in Resulting in Ocular Disease; a Systematic Review. Frontiers in Genetics. 13: 884722. PMID 35651932 DOI: 10.3389/fgene.2022.884722 |
0.261 |
|
| 2023 |
Pauzuolyte V, Patel A, Wawrzynski JR, Ingham NJ, Leong YC, Karda R, Bitner-Glindzicz M, Berger W, Waddington SN, Steel KP, Sowden JC. Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease. Embo Molecular Medicine. e17393. PMID 37642150 DOI: 10.15252/emmm.202317393 |
0.257 |
|
| 1995 |
Sowden J, Putt W, Morrison K, Beddington R, Edwards Y. The embryonic RNA helicase gene (ERH): a new member of the DEAD box family of RNA helicases. Biochemical Journal. 308: 839-846. PMID 8948440 DOI: 10.1042/Bj3080839 |
0.256 |
|
| 2000 |
Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ, Hussain K, Furth-Lavi J, Cosgrove KE, Shepherd RM, Barnes PD, O'Brien RE, Farndon PA, Sowden J, Liu XZ, et al. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nature Genetics. 26: 56-60. PMID 10973248 DOI: 10.1038/79178 |
0.255 |
|
| 2014 |
Kelberman D, Islam L, Lakowski J, Bacchelli C, Chanudet E, Lescai F, Patel A, Stupka E, Buck A, Wolf S, Beales PL, Jacques TS, Bitner-Glindzicz M, Liasis A, Lehmann OJ, ... ... Sowden JC, et al. Mutation of SALL2 causes recessive ocular coloboma in humans and mice. Human Molecular Genetics. 23: 2511-26. PMID 24412933 DOI: 10.1093/Hmg/Ddt643 |
0.251 |
|
| 2013 |
Panizzo RA, Gadian DG, Sowden JC, Wells JA, Lythgoe MF, Ferretti P. Monitoring ferumoxide-labelled neural progenitor cells and lesion evolution by magnetic resonance imaging in a model of cell transplantation in cerebral ischaemia. F1000research. 2: 252. PMID 24715962 DOI: 10.12688/f1000research.2-252.v2 |
0.25 |
|
| 1998 |
Drummond FJ, Sowden J, Morrison K, Edwards YH. Colon carbonic anhydrase 1: Transactivation of gene expression by the homeodomain protein Cdx2 Febs Letters. 423: 218-222. PMID 9512360 DOI: 10.1016/S0014-5793(98)00103-3 |
0.25 |
|
| 1996 |
Edwards YH, Putt W, Lekoape KM, Stott D, Fox M, Hopkinson DA, Sowden J. The human homolog T of the mouse T(Brachyury) gene; gene structure, cDNA sequence, and assignment to chromosome 6q27. Genome Research. 6: 226-233. PMID 8963900 DOI: 10.1101/Gr.6.3.226 |
0.245 |
|
| 2012 |
Webb TR, Matarin M, Gardner JC, Kelberman D, Hassan H, Ang W, Michaelides M, Ruddle JB, Pennell CE, Yazar S, Khor CC, Aung T, Yogarajah M, Robson AG, Holder GE, ... ... Sowden JC, et al. X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development. American Journal of Human Genetics. 90: 247-59. PMID 22284829 DOI: 10.1016/j.ajhg.2011.12.019 |
0.243 |
|
| 1996 |
Morrison K, Papapetrou C, Attwood J, Hol F, Lynch SA, Sampath A, Hamel B, Burn J, Sowden J, Stott D, Mariman E, Edwards YH. Genetic mapping of the human homologue (T) of mouse T(Brachyury) and a search for allele association between human T and spina bifida. Human Molecular Genetics. 5: 669-74. PMID 8733136 DOI: 10.1093/Hmg/5.5.669 |
0.242 |
|
| 2014 |
Dahlmann-Noor A, Tailor V, Cherukad J, Sowden J, Davagnanam I, Thornton J, Yousry T. Isolated congenital superior oblique paresis: a high-resolution MRI phenotype/genotype study Journal of American Association For Pediatric Ophthalmology and Strabismus. 18: e13. DOI: 10.1016/J.Jaapos.2014.07.043 |
0.237 |
|
| 1995 |
Sowden J, Morrison K, Schofield J, Putt W, Edwards Y. A novel cDNA with homology to an RNA polymerase II elongation factor maps to human chromosome 5q31 (TCEB1L) and to mouse chromosome 11 (Tceb1l). Genomics. 29: 145-151. PMID 8530064 DOI: 10.1006/Geno.1995.1225 |
0.23 |
|
| 2017 |
Richardson R, Sowden J, Gerth-Kahlert C, Moore AT, Moosajee M. Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches. European Journal of Human Genetics : Ejhg. PMID 28098148 DOI: 10.1038/Ejhg.2016.201 |
0.223 |
|
| 1996 |
Drummond F, Sowden J, Morrison K, Edwards YH. The caudal-type homeobox protein Cdx-2 binds to the colon promoter of the carbonic anhydrase 1 gene. European Journal of Biochemistry. 236: 670-81. PMID 8612644 DOI: 10.1111/J.1432-1033.1996.T01-1-00670.X |
0.223 |
|
| 2006 |
Morcillo J, MartÃnez-Morales JR, Trousse F, Fermin Y, Sowden JC, Bovolenta P. Proper patterning of the optic fissure requires the sequential activity of BMP7 and SHH. Development (Cambridge, England). 133: 3179-90. PMID 16854970 DOI: 10.1242/dev.02493 |
0.222 |
|
| 2012 |
Lescai F, Bonfiglio S, Bacchelli C, Chanudet E, Waters A, Sisodiya SM, KasperaviÄiÅ«tÄ— D, Williams J, Harold D, Hardy J, Kleta R, Cirak S, Williams R, Achermann JC, Anderson J, ... ... Sowden J, et al. Characterisation and validation of insertions and deletions in 173 patient exomes. Plos One. 7: e51292. PMID 23251486 DOI: 10.1371/Journal.Pone.0051292 |
0.221 |
|
| 2013 |
Webb EA, AlMutair A, Kelberman D, Bacchelli C, Chanudet E, Lescai F, Andoniadou CL, Banyan A, Alsawaid A, Alrifai MT, Alahmesh MA, Balwi M, Mousavy-Gharavy SN, Lukovic B, Burke D, ... ... Sowden JC, et al. ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies. Brain : a Journal of Neurology. 136: 3096-105. PMID 24022475 DOI: 10.1093/brain/awt218 |
0.207 |
|
| 2008 |
Sowden JC. Molecular and developmental mechanisms of anterior segment dysgenesis. Eye (London, England). 21: 1310-8. PMID 17914434 DOI: 10.1038/sj.eye.6702852 |
0.203 |
|
| 2017 |
Patel A, Sowden JC. Genes and pathways in optic fissure closure. Seminars in Cell & Developmental Biology. PMID 29198497 DOI: 10.1016/j.semcdb.2017.10.010 |
0.186 |
|
| 2022 |
Bryant D, Pauzuolyte V, Ingham NJ, Patel A, Pagarkar W, Anderson LA, Smith KE, Moulding DA, Leong YC, Jafree DJ, Long DA, Al-Yassin A, Steel KP, Jagger DJ, Forge A, ... ... Sowden JC, et al. The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention. Jci Insight. 7. PMID 35132964 DOI: 10.1172/jci.insight.148586 |
0.182 |
|
| 2019 |
Hardy H, Prendergast JG, Patel A, Dutta S, Trejo-Reveles V, Kroeger H, Yung AR, Goodrich LV, Brooks B, Sowden JC, Rainger J. Detailed analysis of chick optic fissure closure reveals Netrin-1 as an essential mediator of epithelial fusion. Elife. 8. PMID 31162046 DOI: 10.7554/Elife.43877 |
0.18 |
|
| 2016 |
Cheong SS, Hentschel L, Davidson AE, Gerrelli D, Davie R, Rizzo R, Pontikos N, Plagnol V, Moore AT, Sowden JC, Michaelides M, Snead M, Tuft SJ, Hardcastle AJ. Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis. American Journal of Human Genetics. PMID 27839872 DOI: 10.1016/J.Ajhg.2016.09.022 |
0.167 |
|
| 2019 |
Patel A, Hayward JD, Tailor V, Nyanhete R, Ahlfors H, Gabriel C, Jannini TB, Abbou-Rayyah Y, Henderson R, Nischal KK, Islam L, Bitner-Glindzicz M, Hurst J, Valdivia LE, Zanolli M, ... ... Sowden JC, et al. The Oculome panel test: next-generation sequencing to diagnose a diverse range of genetic developmental eye disorders. Ophthalmology. PMID 30653986 DOI: 10.1016/J.Ophtha.2018.12.050 |
0.158 |
|
| 1990 |
Brady HJ, Sowden JC, Edwards M, Lowe N, Butterworth PH. Multiple GF-1 binding sites flank the erythroid specific transcription unit of the human carbonic anhydrase I gene. Febs Letters. 257: 451-6. PMID 2511043 DOI: 10.1016/0014-5793(89)81594-7 |
0.157 |
|
| 2006 |
Behesti H, Holt JK, Sowden JC. The level of BMP4 signaling is critical for the regulation of distinct T-box gene expression domains and growth along the dorso-ventral axis of the optic cup. Bmc Developmental Biology. 6: 62. PMID 17173667 DOI: 10.1186/1471-213X-6-62 |
0.146 |
|
| 2000 |
Meins M, Henderson DJ, Bhattacharya SS, Sowden JC. Characterization of the human TBX20 gene, a new member of the T-box gene family closely related to the Drosophila H15 gene Genomics. 67: 317-332. PMID 10936053 DOI: 10.1006/geno.2000.6249 |
0.13 |
|
| 2015 |
Islam L, Kelberman D, Williamson L, Lewis N, Glindzicz MB, Nischal KK, Sowden JC. Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment disease. Human Mutation. 36: 296-300. PMID 25504734 DOI: 10.1002/humu.22741 |
0.127 |
|
| 2011 |
Shah SP, Taylor AE, Sowden JC, Ragge NK, Russell-Eggitt I, Rahi JS, Gilbert CE. Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk. Investigative Ophthalmology & Visual Science. 52: 558-64. PMID 20574025 DOI: 10.1167/iovs.10-5263 |
0.121 |
|
| 2006 |
Idrees F, Vaideanu D, Fraser SG, Sowden JC, Khaw PT. A review of anterior segment dysgeneses. Survey of Ophthalmology. 51: 213-31. PMID 16644364 DOI: 10.1016/J.Survophthal.2006.02.006 |
0.121 |
|
| 2011 |
Kelberman D, Islam L, Holder SE, Jacques TS, Calvas P, Hennekam RC, Nischal KK, Sowden JC. Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity. Human Mutation. 32: 1144-52. PMID 21837767 DOI: 10.1002/Humu.21550 |
0.117 |
|
| 2006 |
Idrees F, Bloch-Zupan A, Free SL, Vaideanu D, Thompson PJ, Ashley P, Brice G, Rutland P, Bitner-Glindzicz M, Khaw PT, Fraser S, Sisodiya SM, Sowden JC. A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes American Journal of Medical Genetics - Neuropsychiatric Genetics. 141: 184-191. PMID 16389592 DOI: 10.1002/Ajmg.B.30237 |
0.114 |
|
| 2003 |
Lehmann OJ, Sowden JC, Carlsson P, Jordan T, Bhattacharya SS. Fox's in development and disease. Trends in Genetics : Tig. 19: 339-44. PMID 12801727 DOI: 10.1016/S0168-9525(03)00111-2 |
0.114 |
|
| 2008 |
Chanda B, Asai-Coakwell M, Ye M, Mungall AJ, Barrow M, Dobyns WB, Behesti H, Sowden JC, Carter NP, Walter MA, Lehmann OJ. A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation. Human Molecular Genetics. 17: 3446-58. PMID 18694899 DOI: 10.1093/Hmg/Ddn238 |
0.111 |
|
| 2012 |
Leng T, Marmor MF, Kellner U, Thompson DA, Renner AB, Moore W, Sowden JC. Foveal cavitation as an optical coherence tomography finding in central cone dysfunction. Retina (Philadelphia, Pa.). 32: 1411-9. PMID 22466470 DOI: 10.1097/IAE.0b013e318236e4ea |
0.111 |
|
| 1990 |
Lowe N, Brady HJ, Barlow JH, Sowden JC, Edwards M, Butterworth PH. Structure and methylation patterns of the gene encoding human carbonic anhydrase I. Gene. 93: 277-83. PMID 2121614 DOI: 10.1016/0378-1119(90)90236-K |
0.109 |
|
| 2009 |
Park S, Jamshidi Y, Vaideanu D, Bitner-Glindzicz M, Fraser S, Sowden JC. Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes. Investigative Ophthalmology & Visual Science. 50: 1522-30. PMID 18952915 DOI: 10.1167/iovs.08-2483 |
0.108 |
|
| 2020 |
Sowden JC, Kros CJ, Sirimanna T, Pagarkar W, Oluonye N, Henderson RH. Impact of sight and hearing loss in patients with Norrie disease: advantages of Dual Sensory clinics in patient care. Bmj Paediatrics Open. 4: e000781. PMID 33225082 DOI: 10.1136/bmjpo-2020-000781 |
0.107 |
|
| 2011 |
Kelberman D, Islam L, Jacques TS, Russell-Eggitt I, Bitner-Glindzicz M, Khaw PT, Nischal KK, Sowden JC. CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisited. Ophthalmology. 118: 1865-73. PMID 21600657 DOI: 10.1016/J.Ophtha.2011.01.044 |
0.101 |
|
| 2002 |
Lehmann OJ, Ebenezer ND, Ekong R, Ocaka L, Mungall AJ, Fraser S, McGill JI, Hitchings RA, Khaw PT, Sowden JC, Povey S, Walter MA, Bhattacharya SS, Jordan T. Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions. Investigative Ophthalmology & Visual Science. 43: 1843-9. PMID 12036988 |
0.098 |
|
| 2014 |
Macchiaroli A, Kelberman D, Auriemma RS, Drury S, Islam L, Giangiobbe S, Ironi G, Lench N, Sowden JC, Colao A, Pivonello R, Cavallo L, Gasperi M, Faienza MF. A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency. Gene. 534: 282-5. PMID 24211324 DOI: 10.1016/j.gene.2013.10.043 |
0.086 |
|
| 2008 |
Pocock R, Mione M, Hussain S, Maxwell S, Pontecorvi M, Aslam S, Gerrelli D, Sowden JC, Woollard A. Neuronal function of Tbx20 conserved from nematodes to vertebrates. Developmental Biology. 317: 671-85. PMID 18358469 DOI: 10.1016/J.Ydbio.2008.02.015 |
0.086 |
|
| 1986 |
Perkins W, Sowden J, Cheng C, Stenning B. A microcomputer system to help the severely handicapped Journal of the Institution of Electronic and Radio Engineers. 56: 311. DOI: 10.1049/jiere.1986.0127 |
0.085 |
|
| 2012 |
Park S, Jamshidi Y, Vaideanu D, Fraser S, Sowden JC. Common TGFβ2, BMP4, and FOXC1 variants are not associated with primary open-angle glaucoma. Molecular Vision. 18: 1526-39. PMID 22736943 |
0.084 |
|
| 2018 |
Fritsch DM, Sowden JC, Thompson DA. Pattern Onset ERGs and VEPs Produced by Patterns Arising From Light Increment and Decrement. Investigative Ophthalmology & Visual Science. 59: 94-99. PMID 29332121 DOI: 10.1167/iovs.17-22984 |
0.081 |
|
| 1989 |
BRADY HJM, LOWE N, SOWDEN JC, BARLOW JH, BUTTERWORTH PHW. An unusual 5′-leader in the human erythroid-specific carbonic anhydrase I gene Biochemical Society Transactions. 17: 184-185. DOI: 10.1042/bst0170184 |
0.076 |
|
| 1997 |
Sowden JC, Morrison K, Putt W, Beddington R, Edwards YH. The identification of novel sequences expressed in the mouse notochord. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 8: 42-4. PMID 9021147 DOI: 10.1007/s003359900344 |
0.073 |
|
| 1991 |
Brady HJ, Lowe N, Sowden JC, Edwards M, Butterworth PH. The human carbonic anhydrase I gene has two promoters with different tissue specificities. The Biochemical Journal. 903-5. PMID 1908227 DOI: 10.1042/bj2770903 |
0.064 |
|
| 1998 |
PAPAPETROU C, SOWDEN JC, EDWARDS YH. The T transcription factor functions as a dimer and
exhibits a common polymorphism in the conserved
DNA binding domain of the human protein Genetical Research. 72: 59-72. DOI: 10.1017/s0016672398493303 |
0.045 |
|
| 1997 |
Papapetrou C, Edwards YH, Sowden JC. The T transcription factor functions as a dimer and exhibits a common human polymorphism Gly-177-Asp in the conserved DNA-binding domain. Febs Letters. 409: 201-6. PMID 9202145 DOI: 10.1016/S0014-5793(97)00506-1 |
0.036 |
|
| 2012 |
Shah SP, Taylor AE, Sowden JC, Ragge N, Russell-Eggitt I, Rahi JS, Gilbert CE. Anophthalmos, microphthalmos, and Coloboma in the United kingdom: clinical features, results of investigations, and early management. Ophthalmology. 119: 362-8. PMID 22054996 DOI: 10.1016/j.ophtha.2011.07.039 |
0.023 |
|
| 2020 |
Sowden JC, Patel A, Dahlmann-Noor A, Cullup T, Jenkins L. Reply. Ophthalmology. 127: e22-e23. PMID 32200847 DOI: 10.1016/j.ophtha.2019.12.020 |
0.01 |
|
| 2010 |
Mataftsi A, Sowden JC, Nischal KK. Atypical Peters plus syndrome with new associations. Journal of Aapos : the Official Publication of the American Association For Pediatric Ophthalmology and Strabismus. 14: 560-1; author reply . PMID 21168087 DOI: 10.1016/j.jaapos.2010.09.001 |
0.01 |
|
| Hide low-probability matches. |