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Items: 1 to 20 of 167

1.
A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma.
A M Kennan, F C Mansergh, J H Fingert, T Clark, C Ayuso, P F Kenna, P Humphries, G J Farrar
J Med Genet. 1998 Nov; 35(11): 957–960. doi: 10.1136/jmg.35.11.957
PMCID:
PMC1051493
SummaryPage BrowsePDF–830K
2.
Genetic heterogeneity of primary open angle glaucoma and ocular hypertension: linkage to GLC1A associated with an increased risk of severe glaucomatous optic neuropathy.
A P Brézin, A Béchetoille, P Hamard, F Valtot, M Berkani, A Belmouden, M F Adam, S Dupont de Dinechin, J F Bach, H J Garchon
J Med Genet. 1997 Jul; 34(7): 546–552. doi: 10.1136/jmg.34.7.546
PMCID:
PMC1050993
SummaryPage BrowsePDF–1.0M
3.
Characterization and Comparison of the Human and Mouse GLC1A Glaucoma Genes
John H. Fingert, Lihua Ying, Ruth E. Swiderski, Arne M. Nystuen, Nancy C. Arbour, Wallace L.M. Alward, Val C. Sheffield, Edwin M. Stone
Genome Res. 1998 Apr; 8(4): 377–384. doi: 10.1101/gr.8.4.377
PMCID:
PMC310708
AbstractArticlePDF–481K
4.
Pro370Leu myocilin mutation in a Chinese pedigree with juvenile-onset open angle glaucoma
Yan-Tao Wei, Yi-qing Li, Yu-Jing Bai, Mei Wang, Jun-hong Chen, Jian Ge, Ye-Hong Zhuo
Mol Vis. 2011; 17: 1449–1456. Published online 2011 Jun 1.
PMCID:
PMC3110496
AbstractArticlePDF–1.2M
5.
A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q.
J Morissette, G Côté, J L Anctil, M Plante, M Amyot, E Héon, G E Trope, J Weissenbach, V Raymond
Am J Hum Genet. 1995 Jun; 56(6): 1431–1442.
PMCID:
PMC1801110
SummaryPage BrowsePDF–1.9M
6.
Juvenile glaucoma linked to GLCIA in a Panamanian family.
P R Lichter, J E Richards, M Boehnke, M Othman, B D Cameron, H M Stringham, C A Downs, S B Lewis, B F Boyd
Trans Am Ophthalmol Soc. 1996; 94: 335–351.
PMCID:
PMC1312103
SummaryPage BrowsePDF–1.4M
7.
Targeted Disruption of the Myocilin Gene (Myoc) Suggests that Human Glaucoma-Causing Mutations Are Gain of Function
Byong Su Kim, Olga V. Savinova, Mark V. Reedy, Janice Martin, Yi Lun, Lin Gan, Richard S. Smith, Stanislav I. Tomarev, Simon W. M. John, Randy L. Johnson
Mol Cell Biol. 2001 Nov; 21(22): 7707–7713. doi: 10.1128/MCB.21.22.7707-7713.2001
PMCID:
PMC99941
AbstractArticlePDF–1.4M
8.
Identification of Mutations in Myocilin and Beta-1,4-galactosyltransferase 3 Genes in a Chinese Family with Primary Open-angle Glaucoma
Rong-Feng Liao, Zi-Lin Zhong, Min-Jie Ye, Li-Yun Han, Dong-Qing Ye, Jian-Jun Chen
Chin Med J (Engl) 2016 Dec 5; 129(23): 2810–2815. doi: 10.4103/0366-6999.194641
PMCID:
PMC5146788
AbstractArticlePDF–869K
9.
In vivo identification of angle dysgenesis and its relation to genetic markers associated with glaucoma using artificial intelligence
Viney Gupta, Shweta Birla, Toshit Varshney, Bindu I Somarajan, Shikha Gupta, Mrinalini Gupta, Arnav Panigrahi, Abhishek Singh, Dinesh Gupta
Indian J Ophthalmol. 2024 Mar; 72(3): 339–346. Published online 2023 Dec 26. doi: 10.4103/IJO.IJO_1456_23
PMCID:
PMC11001234
AbstractArticlePDF–3.4M
10.
Distribution of TGFBI variants in patients with early onset glaucoma
Viney Gupta, Arnav Panigrahi, Bindu I. Somarajan, Shikha Gupta, Koushik Tripathy, Abhishek Singh, Anshul Sharma, Radhika Tandon, Dibyabhaba Pradhan, Arundhati Sharma, Tushar Kushwaha, Krishna K. Inampudi
Mol Vis. 2023; 29: 365–377. Published online 2023 Dec 26.
PMCID:
PMC10994680
AbstractArticlePDF–631K
11.
Genetic changes and testing associated with childhood glaucoma: A systematic review
Anika Kumar, Ying Han, Julius T. Oatts
PLoS One. 2024; 19(2): e0298883. Published online 2024 Feb 22. doi: 10.1371/journal.pone.0298883
PMCID:
PMC10883561
AbstractArticlePDF–1.0M
12.
Aqueous humor TGFβ and fibrillin-1 in Tsk mice reveal clues to POAG pathogenesis
James C. Tan, MinHee K. Ko, Jeong-Im Woo, Kenneth L. Lu, Jonathan A. Kelber
Sci Rep. 2024; 14: 3517. Published online 2024 Feb 12. doi: 10.1038/s41598-024-53659-z
PMCID:
PMC10861487
AbstractArticlePDF–1.4M
13.
Identification and validation of autophagy-related genes in primary open-angle glaucoma
Wanjing Xu, Yuhao Sun, Shuang Zhao, Jun Zhao, Juanmei Zhang
BMC Med Genomics. 2023; 16: 287. Published online 2023 Nov 15. doi: 10.1186/s12920-023-01722-5
PMCID:
PMC10648356
AbstractArticlePDF–7.1M
14.
Lysyl oxidase-like 1-antisense 1 (LOXL1-AS1) lncRNA differentially regulates gene and protein expression, signaling and morphology of human ocular cells
Heather M Schmitt, Kristyn M Hake, Kristin M Perkumas, Brandon M Lê, Maria F Suarez, Michael L De Ieso, Rashad S Rahman, William M Johnson, María Gomez-Caraballo, Allison E Ashley-Koch, Michael A Hauser, W Daniel Stamer
Hum Mol Genet. 2023 Nov 1; 32(21): 3053–3062. Published online 2023 Aug 4. doi: 10.1093/hmg/ddad128
PMCID:
PMC10586201
AbstractArticlePDF–1.2M
15.
A rare optineurin mutation in an Indian family with coexistence of JOAG and PCG
Manoj Yadav, Anshu Yadav, Aarti Bhardwaj, Chand Singh Dhull, Sumit Sachdeva, Ritu Yadav, Mukesh Tanwar
Indian J Ophthalmol. 2023 Aug; 71(8): 3016–3023. Published online 2023 Aug 1. doi: 10.4103/IJO.IJO_3383_22
PMCID:
PMC10538844
AbstractArticlePDF–3.8M
16.
Exploring Early-Stage Retinal Neurodegeneration in Murine Pigmentary Glaucoma: Insights From Gene Networks and miRNA Regulation Analyses
Qingqing Gu, Aman Kumar, Michael Hook, Fuyi Xu, Akhilesh Kumar Bajpai, Athena Starlard-Davenport, Junming Yue, Monica M. Jablonski, Lu Lu
Invest Ophthalmol Vis Sci. 2023 Sep; 64(12): 25. Published online 2023 Sep 14. doi: 10.1167/iovs.64.12.25
PMCID:
PMC10506683
AbstractArticlePDF–1.3M
17.
α-Synuclein modulates fibronectin expression in the trabecular meshwork independent of TGFβ2
Anika Adulla, Urvi Patel, Ajay Ashok, Priya Katiyar, Mare Kaulakis, Alexander E. Kritikos, Sachin Pillai, HyunPin Lee, Ewald Lindner, Douglas J. Rhee, Neena Singh
Exp Eye Res. Author manuscript; available in PMC 2023 Jul 29.
Published in final edited form as: Exp Eye Res. 2023 Jan; 226: 109351. Published online 2022 Dec 17. doi: 10.1016/j.exer.2022.109351
PMCID:
PMC10384565
AbstractArticlePDF–1.3M
18.
Association of Behavioral and Clinical Risk Factors With Cataract: A Two-Sample Mendelian Randomization Study
Chen Jiang, Ronald B. Melles, Poorab Sangani, Thomas J. Hoffmann, Pirro G. Hysi, M. Maria Glymour, Eric Jorgenson, Salil A. Lachke, Hélène Choquet
Invest Ophthalmol Vis Sci. 2023 Jul; 64(10): 19. Published online 2023 Jul 17. doi: 10.1167/iovs.64.10.19
PMCID:
PMC10362921
AbstractArticlePDF–894K
19.
Proposed Mechanism of Long-Term Intraocular Pressure Lowering With the Bimatoprost Implant
W. Daniel Stamer, Kristin M. Perkumas, Min H. Kang, Mohammed Dibas, Michael R. Robinson, Douglas J. Rhee
Invest Ophthalmol Vis Sci. 2023 Mar; 64(3): 15. Published online 2023 Mar 6. doi: 10.1167/iovs.64.3.15
PMCID:
PMC10007903
AbstractArticlePDF–2.5M
20.
SPECIFICATIONS OF THE ACMG/AMP VARIANT CURATION GUIDELINES FOR MYOCILIN: RECOMMENDATIONS FROM THE CLINGEN GLAUCOMA EXPERT PANEL
Kathryn P. Burdon, Patricia Graham, Johanna Hadler, John D. Hulleman, Francesca Pasutto, Erin A. Boese, Jamie E. Craig, John H. Fingert, Alex W. Hewitt, Owen M. Siggs, Kristina Whisenhunt, Terri L. Young, David A. Mackey, Andrew Dubowsky, Emmanuelle Souzeau
Hum Mutat. Author manuscript; available in PMC 2023 Dec 1.
Published in final edited form as: Hum Mutat. 2022 Dec; 43(12): 2170–2186. Published online 2022 Oct 19. doi: 10.1002/humu.24482
PMCID:
PMC9771967
AbstractArticlePDF–679K

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