PMC Articles for MedGen (Select 324818) - PMC

Select item 89722011.

EFEMP1 rare variants cause familial juvenile-onset open angle glaucoma

Edward Ryan A. Collantes, Manuel S. Delfin, Jr., Baojian Fan, Justine May R. Torregosa, Christine Siguan-Bell, Nilo Vincent de Guzman Florcruz, Jose Maria D. Martinez, Barbara Joy Masna-Hidalgo, Vincent Paul T. Guzman, Jewel Faith Anotado-Flores, Faye D. Levina, Sophia Raine C. Hernandez, Anthony A. Collantes, Michael Carreon Sibulo, Shisong Rong, Janey L. Wiggs

Hum Mutat. Author manuscript; available in PMC 2023 Feb 1.

Published in final edited form as: Hum Mutat. 2022 Feb; 43(2): 240–252. Published online 2021 Dec 28. doi: 10.1002/humu.24320

Correction in:: Hum Mutat. 2022 May 1

PMCID:: PMC8972201

Abstract Article PDF–638K

Select item 85975392.

Exome sequencing identifies procollagen-lysine 2-oxoglutarate 5-dioxygenase 2 mutations in primary congenital and juvenile glaucoma

Viney Gupta, Bindu I Somarajan, Gagandeep Kaur, Shikha Gupta, Renu Singh, Dibyabhaba Pradhan, Harpreet Singh, Punit Kaur, Anshul Sharma, Bindia Chawla, Anisha Pahuja, Rajesh Ramachandran, Arundhati Sharma

Indian J Ophthalmol. 2021 Oct; 69(10): 2710–2716. Published online 2021 Sep 25. doi: 10.4103/ijo.IJO_1750_21

PMCID:: PMC8597539

Abstract Article PDF–2.7M

Select item 80270543.

The mutational spectrum of Myocilin gene among familial versus sporadic cases of Juvenile onset open angle glaucoma

Viney Gupta, Bindu I. Somarajan, Shikha Gupta, Gagandeep Kaur Walia, Abhishek Singh, Rayees Sofi, Richard Sher Chaudhary, Arundhati Sharma

Eye (Lond) 2021 Feb; 35(2): 400–408. Published online 2020 Apr 16. doi: 10.1038/s41433-020-0850-z

PMCID:: PMC8027054

Abstract Article PDF–969K

Select item 63176854.

Physiological function of myocilin and its role in the pathogenesis of glaucoma in the trabecular meshwork (Review)

Hongwei Wang, Mingzhe Li, Zhenzhen Zhang, Haifeng Xue, Xing Chen, Yong Ji

Int J Mol Med. 2019 Feb; 43(2): 671–681. Published online 2018 Nov 20. doi: 10.3892/ijmm.2018.3992

PMCID:: PMC6317685

Abstract Article PDF–1.7M

Select item 62393145.

Estimating the age of the p.Cys433Arg variant in the MYOC gene in patients with primary open-angle glaucoma

Ana Maria Marques, Galina Ananina, Vital Paulino Costa, José Paulo Cabral de Vasconcellos, Mônica Barbosa de Melo

PLoS One. 2018; 13(11): e0207409. Published online 2018 Nov 16. doi: 10.1371/journal.pone.0207409

PMCID:: PMC6239314

Abstract Article PDF–1.2M

Select item 58520286.

Detection of mutations in MYOC, OPTN, NTF4, WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma using exome sequencing

Chukai Huang, Lijing Xie, Zhenggen Wu, Yingjie Cao, Yuqian Zheng, Chi-Pui Pang, Mingzhi Zhang

Sci Rep. 2018; 8: 4498. Published online 2018 Mar 14. doi: 10.1038/s41598-018-22337-2

PMCID:: PMC5852028

Abstract Article PDF–2.3M

Select item 37713947.

Variations in COL15A1 and COL18A1 influence age of onset of primary open angle glaucoma

Janey L. Wiggs, Gareth R. Howell, Kevin Linkroum, Wael Abdrabou, Emily Hodges, Catherine E. Braine, Louis R. Pasquale, Gregory J. Hannon, Jonathan L. Haines, Simon W. M. John

Clin Genet. Author manuscript; available in PMC 2014 Aug 1.

Published in final edited form as: Clin Genet. 2013 Aug; 84(2): 167–174. Published online 2013 May 27. doi: 10.1111/cge.12176

PMCID:: PMC3771394

Abstract Article PDF–951K

Select item 34700428.

Mutations in the CYP1B1 gene may contribute to juvenile-onset open-angle glaucoma

C-C Su, Y-F Liu, S-Y Li, J-J Yang, Y-C Yen

Eye (Lond) 2012 Oct; 26(10): 1369–1377. Published online 2012 Aug 10. doi: 10.1038/eye.2012.159

PMCID:: PMC3470042

Abstract Article PDF–568K

Select item 27687639.

Fine mapping of new glaucoma locus GLC1M and exclusion of neuregulin 2 as the causative gene

Bao Jian Fan, Wendy Charles Ko, Dan Yi Wang, Oscar Canlas, Robert Ritch, Dennis S. C. Lam, Chi Pui Pang

Mol Vis. 2007; 13: 779–784. Published online 2007 May 23.

PMCID:: PMC2768763

Abstract Article PDF–250K

Select item 261522110.

Overexpression of Myocilin in the Drosophila Eye Activates the Unfolded Protein Response: Implications for Glaucoma

Mary Anna Carbone, Julien F. Ayroles, Akihiko Yamamoto, Tatiana V. Morozova, Steven A. West, Michael M. Magwire, Trudy F. C. Mackay, Robert R. H. Anholt

PLoS One. 2009; 4(1): e4216. Published online 2009 Jan 16. doi: 10.1371/journal.pone.0004216

PMCID:: PMC2615221

Abstract Article PDF–1.5M

Select item 260344511.

Screening of common CYP1B1 mutations in Iranian POAG patients using a microarray-based PrASE protocol

Fatemeh Suri, Reza Kalhor, Seyed Jalal Zargar, Navid Nilforooshan, Shahin Yazdani, Hossein Nezari, Seyed Hassan Paylakhi, Mehrnaz Narooie-Nejhad, Behnaz Bayat, Tina Sedaghati, Afshin Ahmadian, Elahe Elahi

Mol Vis. 2008; 14: 2349–2356. Published online 2008 Dec 18.

PMCID:: PMC2603445

Abstract Article PDF–1.1M

Select item 248048012.

Fine mapping of the GLC1K juvenile primary open-angle glaucoma locus and exclusion of candidate genes

A. Sud, E.A. Del Bono, J.L. Haines, J.L. Wiggs

Mol Vis. 2008; 14: 1319–1326. Published online 2008 Jul 21.

PMCID:: PMC2480480

Abstract Article PDF–1.1M

Select item 232411713.

A genome-wide scan maps a novel autosomal dominant juvenile-onset open-angle glaucoma locus to 2p15-16

Ying Lin, Ting Liu, Jing Li, Jiyun Yang, Qiong Du, Junfang Wang, Yang Yang, Xiaoqi Liu, Yuanfu Fan, Fang Lu, Yilian Chen, Yonghong Pu, Kang Zhang, Xiangge He, Zhenglin Yang

Mol Vis. 2008; 14: 739–744. Published online 2008 Apr 18.

PMCID:: PMC2324117

Abstract Article PDF–3.3M

Select item 191806614.

Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome Iq.

J. E. Richards, P. R. Lichter, M. Boehnke, J. L. Uro, D. Torrez, D. Wong, A. T. Johnson

Am J Hum Genet. 1994 Jan; 54(1): 62–70.

PMCID:: PMC1918066

Summary Page Browse PDF–1.2M

Select item 131210315.

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

Summary Page Browse PDF–1.4M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 15

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity