| Year |
Citation |
Score |
| 2023 |
Yamasaki E, Ali S, Sanchez Solano A, Thakore P, Smith M, Wang X, Labelle-Dumais C, Gould DB, Earley S. Faulty TRPM4 channels underlie age-dependent cerebral vascular dysfunction in Gould syndrome. Proceedings of the National Academy of Sciences of the United States of America. 120: e2217327120. PMID 36693102 DOI: 10.1073/pnas.2217327120 |
0.413 |
|
| 2022 |
Branyan K, Labelle-Dumais C, Wang X, Hayashi G, Lee B, Peltz Z, Gorman S, Li BQ, Mao M, Gould DB. Elevated TGFβ Signaling Contributes to Cerebral Small Vessel Disease in Mouse Models of Gould Syndrome. Matrix Biology : Journal of the International Society For Matrix Biology. PMID 36435425 DOI: 10.1016/j.matbio.2022.11.007 |
0.468 |
|
| 2022 |
Mao M, Labelle-Dumais C, Tufa SF, Keene DR, Gould DB. Elevated TGFβ signaling contributes to ocular anterior segment dysgenesis in Col4a1 mutant mice. Matrix Biology : Journal of the International Society For Matrix Biology. PMID 35525525 DOI: 10.1016/j.matbio.2022.05.001 |
0.361 |
|
| 2021 |
Mao M, Popli T, Jeanne M, Hoff K, Sen S, Gould DB. Identification of fibronectin 1 as a candidate genetic modifier in a Col4a1 mutant mouse model of Gould syndrome. Disease Models & Mechanisms. 14. PMID 34424299 DOI: 10.1242/dmm.048231 |
0.38 |
|
| 2021 |
Mao M, Popli T, Jeanne M, Hoff K, Sen S, Gould DB. Identification of fibronectin 1 as a candidate genetic modifier in a mutant mouse model of Gould syndrome. Disease Models & Mechanisms. PMID 33692098 DOI: 10.1242/dmm.048231 |
0.384 |
|
| 2020 |
Ishikawa Y, Mizuno N, Holden P, Lim PJ, Gould DB, Rohrbach M, Giunta C, Bächinger HP. The novel missense mutation Met48Lys in FKBP22 changes its structure and functions. Scientific Reports. 10: 497. PMID 31949249 DOI: 10.1038/s41598-019-57374-y |
0.336 |
|
| 2019 |
Labelle-Dumais C, Schuitema V, Hayashi G, Hoff K, Gong W, Dao DQ, Ullian EM, Oishi P, Margeta M, Gould DB. COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity. American Journal of Human Genetics. 104: 847-860. PMID 31051113 DOI: 10.1016/J.Ajhg.2019.03.007 |
0.323 |
|
| 2018 |
Hayashi G, Labelle-Dumais C, Gould DB. Use of 4-phenylbutyrate to define therapeutic parameters for reducing intracerebral hemorrhage and myopathy in mutant mice. Disease Models & Mechanisms. PMID 29895609 DOI: 10.1242/dmm.034157 |
0.344 |
|
| 2017 |
Protas ME, Weh E, Footz T, Kasberger J, Baraban SC, Levin AV, Katz LJ, Ritch R, Walter MA, Semina EV, Gould DB. Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma. Human Molecular Genetics. 26: 3630-3638. PMID 28911203 DOI: 10.1093/Hmg/Ddx251 |
0.538 |
|
| 2017 |
Mao M, Kiss M, Ou Y, Gould DB. Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation. Disease Models & Mechanisms. PMID 28237965 DOI: 10.1242/dmm.027888 |
0.448 |
|
| 2016 |
Jeanne M, Gould DB. Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations. Matrix Biology : Journal of the International Society For Matrix Biology. PMID 27794444 DOI: 10.1016/j.matbio.2016.10.003 |
0.364 |
|
| 2016 |
Proekt I, Miller CN, Jeanne M, Fasano KJ, Moon JJ, Lowell CA, Gould DB, Anderson MS, DeFranco AL. LYN- and AIRE-mediated tolerance checkpoint defects synergize to trigger organ-specific autoimmunity. The Journal of Clinical Investigation. PMID 27571405 DOI: 10.1172/Jci84440 |
0.324 |
|
| 2016 |
Alavi MV, Mao M, Pawlikowski BT, Kvezereli M, Duncan JL, Libby RT, John SW, Gould DB. Col4a1 mutations cause progressive retinal neovascular defects and retinopathy. Scientific Reports. 6: 18602. PMID 26813606 DOI: 10.1038/Srep18602 |
0.647 |
|
| 2015 |
Mao M, Smith RS, Alavi MV, Marchant JK, Cosma M, Libby RT, John SW, Gould DB. Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice. Investigative Ophthalmology & Visual Science. 56: 6823-6831. PMID 26567795 DOI: 10.1167/Iovs.15-17527 |
0.65 |
|
| 2015 |
Jeanne M, Jorgensen J, Gould DB. Molecular and Genetic Analyses of Collagen Type IV Mutant Mouse Models of Spontaneous Intracerebral Hemorrhage Identify Mechanisms for Stroke Prevention. Circulation. 131: 1555-65. PMID 25753534 DOI: 10.1161/CIRCULATIONAHA.114.013395 |
0.305 |
|
| 2014 |
Kuo DS, Labelle-Dumais C, Mao M, Jeanne M, Kauffman WB, Allen J, Favor J, Gould DB. Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations. Human Molecular Genetics. 23: 1709-22. PMID 24203695 DOI: 10.1093/hmg/ddt560 |
0.419 |
|
| 2012 |
Kuo DS, Labelle-Dumais C, Gould DB. COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets. Human Molecular Genetics. 21: R97-110. PMID 22914737 DOI: 10.1093/hmg/dds346 |
0.315 |
|
| 2012 |
Weng YC, Sonni A, Labelle-Dumais C, de Leau M, Kauffman WB, Jeanne M, Biffi A, Greenberg SM, Rosand J, Gould DB. COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage. Annals of Neurology. 71: 470-7. PMID 22522439 DOI: 10.1002/Ana.22682 |
0.381 |
|
| 2012 |
Verbeek E, Meuwissen ME, Verheijen FW, Govaert PP, Licht DJ, Kuo DS, Poulton CJ, Schot R, Lequin MH, Dudink J, Halley DJ, de Coo RI, den Hollander JC, Oegema R, Gould DB, et al. COL4A2 mutation associated with familial porencephaly and small-vessel disease. European Journal of Human Genetics : Ejhg. 20: 844-51. PMID 22333902 DOI: 10.1038/Ejhg.2012.20 |
0.365 |
|
| 2012 |
Jeanne M, Labelle-Dumais C, Jorgensen J, Kauffman WB, Mancini GM, Favor J, Valant V, Greenberg SM, Rosand J, Gould DB. COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke. American Journal of Human Genetics. 90: 91-101. PMID 22209247 DOI: 10.1016/J.Ajhg.2011.11.022 |
0.409 |
|
| 2011 |
Labelle-Dumais C, Dilworth DJ, Harrington EP, de Leau M, Lyons D, Kabaeva Z, Manzini MC, Dobyns WB, Walsh CA, Michele DE, Gould DB. COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. Plos Genetics. 7: e1002062. PMID 21625620 DOI: 10.1371/Journal.Pgen.1002062 |
0.429 |
|
| 2011 |
Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, ... ... Gould DB, et al. Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. Journal of Medical Genetics. 48: 375-82. PMID 21507892 DOI: 10.1136/jmg.2011.089631 |
0.321 |
|
| 2009 |
Firtina Z, Danysh BP, Bai X, Gould DB, Kobayashi T, Duncan MK. Abnormal expression of collagen IV in lens activates unfolded protein response resulting in cataract. The Journal of Biological Chemistry. 284: 35872-84. PMID 19858219 DOI: 10.1074/Jbc.M109.060384 |
0.305 |
|
| 2008 |
Weng Y, Dilworth DJ, Libby RT, John SW, Gould DB. Mutant COL4A1 triggers oxidative stress in a genetic model of AMD Matrix Biology. 27: 39. DOI: 10.1016/J.Matbio.2008.09.339 |
0.531 |
|
| 2007 |
Vahedi K, Boukobza M, Massin P, Gould DB, Tournier-Lasserve E, Bousser MG. Clinical and brain MRI follow-up study of a family with COL4A1 mutation. Neurology. 69: 1564-8. PMID 17938367 DOI: 10.1212/01.wnl.0000295994.46586.e7 |
0.306 |
|
| 2007 |
Lowry RB, Gould DB, Walter MA, Savage PR. Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere syndrome (Axenfeld-Rieger anomaly, hydrocephaly, hearing loss): a 25-year follow up. American Journal of Medical Genetics. Part A. 143: 1227-30. PMID 17486624 DOI: 10.1002/ajmg.a.31732 |
0.521 |
|
| 2007 |
Gould DB, Marchant JK, Savinova OV, Smith RS, John SW. Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis. Human Molecular Genetics. 16: 798-807. PMID 17317786 DOI: 10.1093/hmg/ddm024 |
0.646 |
|
| 2006 |
Gould DB, Reedy M, Wilson LA, Smith RS, Johnson RL, John SW. Mutant myocilin nonsecretion in vivo is not sufficient to cause glaucoma. Molecular and Cellular Biology. 26: 8427-36. PMID 16954374 DOI: 10.1128/MCB.01127-06 |
0.652 |
|
| 2006 |
Gould DB, Phalan FC, van Mil SE, Sundberg JP, Vahedi K, Massin P, Bousser MG, Heutink P, Miner JH, Tournier-Lasserve E, John SW. Role of COL4A1 in small-vessel disease and hemorrhagic stroke. The New England Journal of Medicine. 354: 1489-96. PMID 16598045 DOI: 10.1056/NEJMoa053727 |
0.622 |
|
| 2005 |
Libby RT, Gould DB, Anderson MG, John SW. Complex genetics of glaucoma susceptibility. Annual Review of Genomics and Human Genetics. 6: 15-44. PMID 16124852 DOI: 10.1146/Annurev.Genom.6.080604.162209 |
0.58 |
|
| 2005 |
Gould DB, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC, Aguglia U, van der Knaap MS, Heutink P, John SW. Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science (New York, N.Y.). 308: 1167-71. PMID 15905400 DOI: 10.1126/science.1109418 |
0.638 |
|
| 2005 |
Anderson MG, Libby RT, Gould DB, Smith RS, John SW. High-dose radiation with bone marrow transfer prevents neurodegeneration in an inherited glaucoma. Proceedings of the National Academy of Sciences of the United States of America. 102: 4566-71. PMID 15758074 DOI: 10.1073/Pnas.0407357102 |
0.54 |
|
| 2004 |
Gould DB, Smith RS, John SW. Anterior segment development relevant to glaucoma. The International Journal of Developmental Biology. 48: 1015-29. PMID 15558492 DOI: 10.1387/ijdb.041865dg |
0.547 |
|
| 2004 |
Gould DB, Walter MA. Mutational analysis of BARHL1 and BARX1 in three new patients with Joubert syndrome. American Journal of Medical Genetics. Part A. 131: 205-8. PMID 15487006 DOI: 10.1002/ajmg.a.30227 |
0.496 |
|
| 2004 |
Gould DB, Miceli-Libby L, Savinova OV, Torrado M, Tomarev SI, Smith RS, John SW. Genetically increasing Myoc expression supports a necessary pathologic role of abnormal proteins in glaucoma. Molecular and Cellular Biology. 24: 9019-25. PMID 15456875 DOI: 10.1128/MCB.24.20.9019-9025.2004 |
0.604 |
|
| 2004 |
Gould DB, Jaafar MS, Addison MK, Munier F, Ritch R, MacDonald IM, Walter MA. Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment. Bmc Medical Genetics. 5: 17. PMID 15219231 DOI: 10.1186/1471-2350-5-17 |
0.477 |
|
| 2002 |
Gould DB, John SW. Anterior segment dysgenesis and the developmental glaucomas are complex traits. Human Molecular Genetics. 11: 1185-93. PMID 12015278 |
0.586 |
|
| 2000 |
Mirzayans F, Gould DB, Héon E, Billingsley GD, Cheung JC, Mears AJ, Walter MA. Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25. European Journal of Human Genetics : Ejhg. 8: 71-4. PMID 10713890 DOI: 10.1038/Sj.Ejhg.5200354 |
0.345 |
|
| 1998 |
Mears AJ, Jordan T, Mirzayans F, Dubois S, Kume T, Parlee M, Ritch R, Koop B, Kuo WL, Collins C, Marshall J, Gould DB, Pearce W, Carlsson P, Enerbäck S, et al. Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. American Journal of Human Genetics. 63: 1316-28. PMID 9792859 DOI: 10.1086/302109 |
0.374 |
|
| 1998 |
Kume T, Deng KY, Winfrey V, Gould DB, Walter MA, Hogan BL. The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus. Cell. 93: 985-96. PMID 9635428 DOI: 10.1016/S0092-8674(00)81204-0 |
0.356 |
|
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