Variant ID: 1-171605478-G-A

NM_000261.1(MYOC):c.1102C>T;(p.Gln368*)

This variant was identified in 77 publications




Publications:


Risk Stratification and Clinical Utility of Polygenic Risk Scores in Ophthalmology.

Translational Vision Science & Technology
A Qassim, E Souzeau, G Hollitt, MM Hassall, OM Siggs, JE Craig
Publication Date: 2021-05-03

Variant appearance in text: MYOC: Gln368Ter
PubMed Link: 34111261
Variant Present in the following documents:
  • Main text
View BVdb publication page



Autophagy stimulation reduces ocular hypertension in murine glaucoma model via autophagic degradation of mutant myocilin.

Jci Insight
RB Kasetti, P Maddineni, CC Kiehlbauch, S Patil, CC Searby, B Levine, VC Sheffield, GS Zode
Publication Date: 2021-02-04

Variant appearance in text: MYOC: Q368X
PubMed Link: 33539326
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization of a novel mutation in the MYOC gene in a Chinese family with primary open‑angle glaucoma.

Molecular Medicine Reports
W Fan, W Li, C Duan, W Zhang, Y Guo, F Chen
Publication Date: 2020-10

Variant appearance in text: MYOC: Q368X
PubMed Link: 32945492
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Genetic and Endoplasmic Reticulum-Mediated Molecular Mechanisms of Primary Open-Angle Glaucoma.

International Journal Of Molecular Sciences
W Rozpędek-Kamińska, R Wojtczak, JP Szaflik, J Szaflik, I Majsterek
Publication Date: 2020-06-11

Variant appearance in text: MYOC: Q368X
PubMed Link: 32545285
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of variants in Chinese individuals with primary open-angle glaucoma using molecular inversion probe (MIP)-based panel sequencing.

Molecular Vision
T Liu, C Tang, X Shi
Publication Date: 2020

Variant appearance in text: MYOC: Gln368Ter
PubMed Link: 32476818
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cross-talk between MYOC p. Y437H mutation and TGF-β2 in the pathology of glaucoma.

International Journal Of Medical Sciences
Y Yang, ASWA Abdulatef, L Zhang, H Jiang, Z Zeng, H Li, X Xia
Publication Date: 2020

Variant appearance in text: MYOC: Gln368X
PubMed Link: 32410836
Variant Present in the following documents:
  • ijmsv17p1062.pdf
  • Main text
View BVdb publication page



Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma.

Plos Genetics
Y Tanigawa, M Wainberg, J Karjalainen, T Kiiskinen, G Venkataraman, S Lemmelä, JA Turunen, RR Graham, AS Havulinna, M Perola, A Palotie, , MJ Daly, MA Rivas
Publication Date: 2020-05

Variant appearance in text: MYOC: Gln368Ter
PubMed Link: 32369491
Variant Present in the following documents:
  • Main text
View BVdb publication page



An Intraocular Pressure Polygenic Risk Score Stratifies Multiple Primary Open-Angle Glaucoma Parameters Including Treatment Intensity.

Ophthalmology
A Qassim, E Souzeau, OM Siggs, MM Hassall, X Han, HL Griffiths, NA Frost, NA Vallabh, JF Kirwan, G Menon, AJ Cree, A Galanopoulos, A Agar, PR Healey, SL Graham, J Landers, RJ Casson, P Gharahkhani, CE Willoughby, AW Hewitt, AJ Lotery, S MacGregor, JE Craig
Publication Date: 2020-07

Variant appearance in text: MYOC: Gln368Ter
PubMed Link: 32081492
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression.

Nature Genetics
JE Craig, X Han, A Qassim, M Hassall, JN Cooke Bailey, TG Kinzy, AP Khawaja, J An, H Marshall, P Gharahkhani, RP Igo, SL Graham, PR Healey, JS Ong, T Zhou, O Siggs, MH Law, E Souzeau, B Ridge, PG Hysi, KP Burdon, RA Mills, J Landers, JB Ruddle, A Agar, A Galanopoulos, AJR White, CE Willoughby, NH Andrew, S Best, AL Vincent, I Goldberg, G Radford-Smith, NG Martin, GW Montgomery, V Vitart, R Hoehn, R Wojciechowski, JB Jonas, T Aung, LR Pasquale, AJ Cree, S Sivaprasad, NA Vallabh, , , AC Viswanathan, F Pasutto, JL Haines, CCW Klaver, CM van Duijn, RJ Casson, PJ Foster, PT Khaw, CJ Hammond, DA Mackey, P Mitchell, AJ Lotery, JL Wiggs, AW Hewitt, S MacGregor
Publication Date: 2020-02

Variant appearance in text: MYOC: Gln368Ter; rs74315329
PubMed Link: 31959993
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Latest Developments in Normal-Pressure Glaucoma: Diagnosis, Epidemiology, Genetics, Etiology, Causes and Mechanisms to Management.

Asia-Pacific Journal Of Ophthalmology (Philadelphia, Pa.)
JWY Lee, PP Chan, X Zhang, LJ Chen, JB Jonas
Publication Date: 2019

Variant appearance in text: MYOC: Gln368Ter
PubMed Link: 31789648
Variant Present in the following documents:
  • Main text
View BVdb publication page



Normal tension glaucoma-like degeneration of the visual system in aged marmosets.

Scientific Reports
T Noro, K Namekata, A Kimura, Y Azuchi, N Hashimoto, K Moriya-Ito, Y Komaki, CY Lee, N Okahara, X Guo, C Harada, E Kim, T Nakano, H Tsuneoka, T Inoue, E Sasaki, H Tokuno, T Harada
Publication Date: 2019-10-16

Variant appearance in text: MYOC: Gln368Ter
PubMed Link: 31619716
Variant Present in the following documents:
  • 41598_2019_Article_51281.pdf
View BVdb publication page



Inducible rodent models of glaucoma.

Progress In Retinal And Eye Research
IH Pang, AF Clark
Publication Date: 2020-03

Variant appearance in text: MYOC: Q368X
PubMed Link: 31557521
Variant Present in the following documents:
  • Main text
View BVdb publication page



Myocilin Mutations in Patients With Normal-Tension Glaucoma.

Jama Ophthalmology
WLM Alward, C van der Heide, CL Khanna, BR Roos, S Sivaprasad, J Kam, R Ritch, A Lotery, RP Igo, JN Cooke Bailey, EM Stone, TE Scheetz, YH Kwon, LR Pasquale, JL Wiggs, JH Fingert,
Publication Date: 2019-05-01

Variant appearance in text: MYOC: Gln368Ter; rs74315329
PubMed Link: 30816940
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients.

Scientific Reports
L O'Gorman, AJ Cree, D Ward, HL Griffiths, R Sood, AK Denniston, JE Self, S Ennis, AJ Lotery, J Gibson
Publication Date: 2019-02-28

Variant appearance in text: MYOC: Q368*; rs74315329
PubMed Link: 30816137
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutant myocilin impacts sarcomere ultrastructure in mouse gastrocnemius muscle.

Plos One
JM Lynch, AJ Dolman, C Guo, K Dolan, C Xiang, S Reda, B Li, G Prasanna
Publication Date: 2018

Variant appearance in text: MYOC: Q368X
PubMed Link: 30395621
Variant Present in the following documents:
  • pone.0206801.s004.pdf
  • pone.0206801.s008.pdf
  • pone.0206801.s009.pdf
  • Main text
View BVdb publication page



Binding of a glaucoma-associated myocilin variant to the αB-crystallin chaperone impedes protein clearance in trabecular meshwork cells.

The Journal Of Biological Chemistry
JM Lynch, B Li, P Katoli, C Xiang, B Leehy, N Rangaswamy, V Saenz-Vash, YK Wang, H Lei, TB Nicholson, E Meredith, DS Rice, G Prasanna, A Chen
Publication Date: 2018-12-28

Variant appearance in text: MYOC: Q368X
PubMed Link: 30389787
Variant Present in the following documents:
  • zbc20137.pdf
  • Main text
  • supp_RA118.004325_138638_2_supp_224871_phklf8.pdf
View BVdb publication page



Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports
H Cheng, X Yang, H Si, AD Saleh, W Xiao, J Coupar, SM Gollin, RL Ferris, N Issaeva, WG Yarbrough, ME Prince, TE Carey, C Van Waes, Z Chen
Publication Date: 2018-10-30

Variant appearance in text: rs74315329
PubMed Link: 30380422
Variant Present in the following documents:
  • NIHMS1511993-supplement-6.xlsx
View BVdb publication page



Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies.

Jama Ophthalmology
X Han, E Souzeau, JS Ong, J An, OM Siggs, KP Burdon, S Best, I Goldberg, PR Healey, SL Graham, JB Ruddle, RA Mills, J Landers, A Galanopoulos, AJR White, R Casson, DA Mackey, AW Hewitt, P Gharahkhani, JE Craig, S MacGregor
Publication Date: 2019-01-01

Variant appearance in text: rs74315329
PubMed Link: 30267046
Variant Present in the following documents:
  • Main text
  • jamaophthalmol-137-28-s001.pdf
View BVdb publication page



Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.

Nature Genetics
AP Khawaja, JN Cooke Bailey, NJ Wareham, RA Scott, M Simcoe, RP Igo, YE Song, R Wojciechowski, CY Cheng, PT Khaw, LR Pasquale, JL Haines, PJ Foster, JL Wiggs, CJ Hammond, PG Hysi, ,
Publication Date: 2018-06

Variant appearance in text: rs74315329
PubMed Link: 29785010
Variant Present in the following documents:
  • Main text
  • NIHMS76895-supplement-Supplementary_figures.docx
View BVdb publication page



Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study.

Nature Communications
C DeBoever, Y Tanigawa, ME Lindholm, G McInnes, A Lavertu, E Ingelsson, C Chang, EA Ashley, CD Bustamante, MJ Daly, MA Rivas
Publication Date: 2018-04-24

Variant appearance in text: rs74315329
PubMed Link: 29691392
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel single nucleotide polymorphism in exon 3 of MYOC enhances the risk of glaucoma.

Plos One
S Nazir, M Mukhtar, M Shahnawaz, S Farooqi, N Fatima, R Mehmood, N Sheikh
Publication Date: 2018

Variant appearance in text: rs74315329
PubMed Link: 29630620
Variant Present in the following documents:
  • Main text
View BVdb publication page



A system for detecting high impact-low frequency mutations in primary tumors and metastases.

Oncogene
M Anjanappa, Y Hao, ER Simpson, P Bhat-Nakshatri, JB Nelson, SA Tersey, RG Mirmira, AA Cohen-Gadol, MR Saadatzadeh, L Li, F Fang, KP Nephew, KD Miller, Y Liu, H Nakshatri
Publication Date: 2018-01-11

Variant appearance in text: rs74315329
PubMed Link: 28892047
Variant Present in the following documents:
  • NIHMS903620-supplement-Table_S4.xlsx
View BVdb publication page



Genetics of glaucoma.

Human Molecular Genetics
JL Wiggs, LR Pasquale
Publication Date: 2017-08-01

Variant appearance in text: MYOC: GLN368X
PubMed Link: 28505344
Variant Present in the following documents:
  • Main text
View BVdb publication page



Major review: Molecular genetics of primary open-angle glaucoma.

Experimental Eye Research
Y Liu, RR Allingham
Publication Date: 2017-07

Variant appearance in text: MYOC: Q368X
PubMed Link: 28499933
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterizing the "POAGome": A bioinformatics-driven approach to primary open-angle glaucoma.

Progress In Retinal And Eye Research
ID Danford, LD Verkuil, DJ Choi, DW Collins, HV Gudiseva, KE Uyhazi, MK Lau, LN Kanu, GR Grant, VRM Chavali, JM O'Brien
Publication Date: 2017-05

Variant appearance in text: MYOC: Q368X
PubMed Link: 28223208
Variant Present in the following documents:
  • NIHMS856485-supplement-30.pdf
  • NIHMS856485-supplement-27.xlsx
View BVdb publication page



Evaluation of the Myocilin Mutation Gln368Stop Demonstrates Reduced Penetrance for Glaucoma in European Populations.

Ophthalmology
A Nag, H Lu, M Arno, AI Iglesias, P Bonnemaijer, L Broer, AG Uitterlinden, CC Klaver, C van Duijn, PG Hysi, CJ Hammond
Publication Date: 2017-04

Variant appearance in text: GLC1A: Gln368Ter; rs74315329
PubMed Link: 28038983
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma Leads to Early Identification of At-Risk Individuals.

Ophthalmology
E Souzeau, KH Tram, M Witney, JB Ruddle, SL Graham, PR Healey, I Goldberg, DA Mackey, AW Hewitt, KP Burdon, JE Craig
Publication Date: 2017-03

Variant appearance in text: MYOC: Gln368Ter
PubMed Link: 27993484
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Pro-fibrotic pathway activation in trabecular meshwork and lamina cribrosa is the main driving force of glaucoma.

Cell Cycle (Georgetown, Tex.)
A Zhavoronkov, E Izumchenko, RR Kanherkar, M Teka, C Cantor, K Manaye, D Sidransky, MD West, E Makarev, AB Csoka
Publication Date: 2016-06-17

Variant appearance in text: MYOC: Q368X
PubMed Link: 27229292
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma.

Bmc Medical Genetics
E Souzeau, KP Burdon, B Ridge, A Dubowsky, JB Ruddle, JE Craig
Publication Date: 2016-04-14

Variant appearance in text: MYOC: Gln368Ter
PubMed Link: 27080696
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research.

Translational Vision Science & Technology
E Souzeau, KP Burdon, DA Mackey, AW Hewitt, R Savarirayan, M Otlowski, JE Craig
Publication Date: 2016-02

Variant appearance in text: MYOC: Gln368Ter
PubMed Link: 26929883
Variant Present in the following documents:
  • Main text
View BVdb publication page



Glaucomatous MYOC mutations activate the IL-1/NF-κB inflammatory stress response and the glaucoma marker SELE in trabecular meshwork cells.

Molecular Vision
T Itakura, DM Peters, ME Fini
Publication Date: 2015

Variant appearance in text: MYOC: Q368X
PubMed Link: 26396484
Variant Present in the following documents:
  • Main text
View BVdb publication page



Glaucoma Genes and Mechanisms.

Progress In Molecular Biology And Translational Science
JL Wiggs
Publication Date: 2015

Variant appearance in text: MYOC: Gln368X
PubMed Link: 26310163
Variant Present in the following documents:
  • Main text
  • nihms-1043381.pdf
View BVdb publication page



Targeting the ER-autophagy system in the trabecular meshwork to treat glaucoma.

Experimental Eye Research
AR Stothert, SN Fontaine, JJ Sabbagh, CA Dickey
Publication Date: 2016-03

Variant appearance in text: MYOC: Q368X
PubMed Link: 26302411
Variant Present in the following documents:
  • Main text
  • nihms723592.pdf
View BVdb publication page



Accurate Imputation-Based Screening of Gln368Ter Myocilin Variant in Primary Open-Angle Glaucoma.

Investigative Ophthalmology & Visual Science
P Gharahkhani, KP Burdon, AW Hewitt, MH Law, E Souzeau, GW Montgomery, G Radford-Smith, DA Mackey, JE Craig, S MacGregor
Publication Date: 2015-08

Variant appearance in text: MYOC: Gln368Ter; rs74315329
PubMed Link: 26237198
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of Primary Inherited Disorders of the Optic Nerve: Clinical Applications.

Cold Spring Harbor Perspectives In Medicine
KF Allen, ED Gaier, JL Wiggs
Publication Date: 2015-07-01

Variant appearance in text: MYOC: GLN368X
PubMed Link: 26134840
Variant Present in the following documents:
  • Main text
View BVdb publication page



Elevation of intraocular pressure in rodents using viral vectors targeting the trabecular meshwork.

Experimental Eye Research
IH Pang, JC Millar, AF Clark
Publication Date: 2015-12

Variant appearance in text: MYOC: Q368X
PubMed Link: 26025608
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of MYOC and APOE promoter polymorphisms and primary open-angle glaucoma: a meta-analysis.

International Journal Of Clinical And Experimental Medicine
H Guo, M Li, Z Wang, Q Liu, X Wu
Publication Date: 2015

Variant appearance in text: MYOC: Q368X
PubMed Link: 25932136
Variant Present in the following documents:
  • Main text
View BVdb publication page



Predictive genetic testing in minors for Myocilin juvenile onset open angle glaucoma.

Clinical Genetics
E Souzeau, J Glading, B Ridge, D Wechsler, M Chehade, A Dubowsky, KP Burdon, JE Craig
Publication Date: 2015-12

Variant appearance in text: TIGR: Q368X
PubMed Link: 25582056
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Cellular processing of myocilin.

Plos One
Y Qiu, X Shen, R Shyam, BY Yue, H Ying
Publication Date: 2014

Variant appearance in text: MYOC: Q368X
PubMed Link: 24732711
Variant Present in the following documents:
  • Main text
View BVdb publication page



The effects of myocilin expression on functionally relevant trabecular meshwork genes: a mini-review.

Journal Of Ocular Pharmacology And Therapeutics : The Official Journal Of The Association For Ocular Pharmacology And Therapeutics
T Borrás
Publication Date: 2014

Variant appearance in text: MYOC: Q368X
PubMed Link: 24564495
Variant Present in the following documents:
  • Main text
View BVdb publication page



Myocilin regulates cell proliferation and survival.

The Journal Of Biological Chemistry
MK Joe, HS Kwon, R Cojocaru, SI Tomarev
Publication Date: 2014-04-04

Variant appearance in text: MYOC: Q368X
PubMed Link: 24563482
Variant Present in the following documents:
  • Main text
View BVdb publication page



Predictive genetic testing experience for myocilin primary open-angle glaucoma using the Australian and New Zealand Registry of Advanced Glaucoma.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
E Souzeau, J Glading, M Keane, B Ridge, T Zhou, KP Burdon, JE Craig
Publication Date: 2014-07

Variant appearance in text: MYOC: Gln368X
PubMed Link: 24406458
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Myocilin and Optineurin: Differential Characteristics and Functional Consequences.

Taiwan Journal Of Ophthalmology
BY Yue
Publication Date: 2011-11-01

Variant appearance in text: GLC1A: Q368X
PubMed Link: 24163790
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
JM Seddon, Y Yu, EC Miller, R Reynolds, PL Tan, S Gowrisankar, JI Goldstein, M Triebwasser, HE Anderson, J Zerbib, D Kavanagh, E Souied, N Katsanis, MJ Daly, JP Atkinson, S Raychaudhuri
Publication Date: 2013-11

Variant appearance in text: rs74315329
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx
View BVdb publication page



Gene expression profile in human trabecular meshwork from patients with primary open-angle glaucoma.

Investigative Ophthalmology & Visual Science
Y Liu, RR Allingham, X Qin, D Layfield, AE Dellinger, J Gibson, J Wheeler, AE Ashley-Koch, WD Stamer, MA Hauser
Publication Date: 2013-09-27

Variant appearance in text: MYOC: Q368X
PubMed Link: 24003086
Variant Present in the following documents:
  • Main text
View BVdb publication page



Progress toward personalized medicine for glaucoma.

Expert Review Of Ophthalmology
SE Moroi, DA Raoof, DM Reed, S Zöllner, Z Qin, JE Richards
Publication Date: 2009-04

Variant appearance in text: GLC1A: Q368X
PubMed Link: 23914252
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Clinical Genetics
JL Wiggs, GR Howell, K Linkroum, W Abdrabou, E Hodges, CE Braine, LR Pasquale, GJ Hannon, JL Haines, SW John
Publication Date: 2013-08

Variant appearance in text: MYOC: GLN368X
PubMed Link: 23621901
Variant Present in the following documents:
  • Main text
View BVdb publication page



A de novo MYOC mutation detected in juvenile open angle glaucoma associated with reduced myocilin protein in aqueous humor.

European Journal Of Medical Genetics
J Kuchtey, UR Chowdhury, CC Uptegraft, MP Fautsch, RW Kuchtey
Publication Date: 2013-06

Variant appearance in text: MYOC: Q368X
PubMed Link: 23517641
Variant Present in the following documents:
  • Main text
View BVdb publication page



Establishment of inducible wild type and mutant myocilin-GFP-expressing RGC5 cell lines.

Plos One
H Ying, X Shen, BY Yue
Publication Date: 2012

Variant appearance in text: MYOC: Q368X
PubMed Link: 23082156
Variant Present in the following documents:
  • Main text
View BVdb publication page



Myocilin polymorphisms and primary open-angle glaucoma: a systematic review and meta-analysis.

Plos One
JW Cheng, SW Cheng, XY Ma, JP Cai, Y Li, GC Lu, RL Wei
Publication Date: 2012

Variant appearance in text: MYOC: Q368X
PubMed Link: 23029558
Variant Present in the following documents:
  • Main text
View BVdb publication page



Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma.

Molecular Vision
W Liu, Y Liu, P Challa, LW Herndon, JL Wiggs, CA Girkin, RR Allingham, MA Hauser
Publication Date: 2012

Variant appearance in text: MYOC: Gln368X
PubMed Link: 22933836
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel and known MYOC exon 3 mutations in an admixed Peruvian primary open-angle glaucoma population.

Molecular Vision
V Mendoza-Reinoso, TS Patil, ML Guevara-Fujita, S Fernández, E Vargas, W Castillo-Herrera, R Perez-Grossmann, F Lizaraso-Caparó, JE Richards, R Fujita
Publication Date: 2012

Variant appearance in text: MYOC: Gln368X
PubMed Link: 22879734
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive analysis of myocilin variants in east Indian POAG patients.

Molecular Vision
D Banerjee, A Bhattacharjee, A Ponda, A Sen, K Ray
Publication Date: 2012

Variant appearance in text: MYOC: 1102C>T
PubMed Link: 22736945
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cystatin a, a potential common link for mutant myocilin causative glaucoma.

Plos One
KD Kennedy, SA AnithaChristy, LK Buie, T Borrás
Publication Date: 2012

Variant appearance in text: MYOC: Q368X
PubMed Link: 22615763
Variant Present in the following documents:
  • Main text
View BVdb publication page



Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatment.

Eye (London, England)
M Gemenetzi, Y Yang, AJ Lotery
Publication Date: 2012-03

Variant appearance in text: MYOC: Q368X
PubMed Link: 22173078
Variant Present in the following documents:
  • Main text
View BVdb publication page



Keeping an eye on myocilin: a complex molecule associated with primary open-angle glaucoma susceptibility.

Molecules (Basel, Switzerland)
F Menaa, CA Braghini, JP Vasconcellos, B Menaa, VP Costa, ES Figueiredo, MB Melo
Publication Date: 2011-06-27

Variant appearance in text: MYOC: Q368X
PubMed Link: 21709622
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma.

European Journal Of Human Genetics : Ejhg
L Fernández-Martínez, S Letteboer, CY Mardin, N Weisschuh, E Gramer, BH Weber, B Rautenstrauss, PA Ferreira, FE Kruse, A Reis, R Roepman, F Pasutto
Publication Date: 2011-04

Variant appearance in text: MYOC: Q368X
PubMed Link: 21224891
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms in an intronic region of the myocilin gene associated with primary open-angle glaucoma--a possible role for alternate splicing.

Molecular Vision
PJ Pandaranayaka, N Prasanthi, N Kannabiran, K Rangachari, M Dhivya, SR Krishnadas, P Sundaresan, S Krishnaswamy
Publication Date: 2010-12-29

Variant appearance in text: MYOC: Q368X
PubMed Link: 21203411
Variant Present in the following documents:
  • app-1.doc
View BVdb publication page



Complex genetic mechanisms in glaucoma: an overview.

Indian Journal Of Ophthalmology
KN Rao, S Nagireddy, S Chakrabarti
Publication Date: 2011-01

Variant appearance in text: MYOC: Q368X
PubMed Link: 21150032
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification a novel MYOC gene mutation in a Chinese family with juvenile-onset open angle glaucoma.

Molecular Vision
X Zhao, C Yang, Y Tong, X Zhang, L Xu, Y Li
Publication Date: 2010-08-25

Variant appearance in text: MYOC: Q368X
PubMed Link: 20806035
Variant Present in the following documents:
  • Main text
View BVdb publication page



Expression of myocilin mutants sensitizes cells to oxidative stress-induced apoptosis: implication for glaucoma pathogenesis.

The American Journal Of Pathology
MK Joe, SI Tomarev
Publication Date: 2010-06

Variant appearance in text: MYOC: Q368X
PubMed Link: 20382707
Variant Present in the following documents:
  • Main text
View BVdb publication page



Differential effects of myocilin and optineurin, two glaucoma genes, on neurite outgrowth.

The American Journal Of Pathology
T Koga, X Shen, JS Park, Y Qiu, BC Park, R Shyam, BY Yue
Publication Date: 2010-01

Variant appearance in text: MYOC: Q368X
PubMed Link: 19959812
Variant Present in the following documents:
  • Main text
View BVdb publication page



Overexpression of myocilin in the Drosophila eye activates the unfolded protein response: implications for glaucoma.

Plos One
MA Carbone, JF Ayroles, A Yamamoto, TV Morozova, SA West, MM Magwire, TF Mackay, RR Anholt
Publication Date: 2009

Variant appearance in text: MYOC: Q368X
PubMed Link: 19148291
Variant Present in the following documents:
  • Main text
View BVdb publication page



Heterozygous expression of myocilin glaucoma mutants increases secretion of the mutant forms and reduces extracellular processed myocilin.

Molecular Vision
JD Aroca-Aguilar, F Sánchez-Sánchez, F Martínez-Redondo, M Coca-Prados, J Escribano
Publication Date: 2008

Variant appearance in text: MYOC: Q368X
PubMed Link: 19023451
Variant Present in the following documents:
  • Main text
View BVdb publication page



Glaucoma-associated myocilin: a better understanding but much more to learn.

Experimental Eye Research
ZT Resch, MP Fautsch
Publication Date: 2009-04

Variant appearance in text: MYOC: Q368X
PubMed Link: 18804106
Variant Present in the following documents:
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Suppression of keratoepithelin and myocilin by small interfering RNA (an American Ophthalmological Society thesis).

Transactions Of The American Ophthalmological Society
AJ Huang
Publication Date: 2007

Variant appearance in text: MYOC: Q368X
PubMed Link: 18427622
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Myocilin variants in Indian patients with open-angle glaucoma.

Archives Of Ophthalmology (Chicago, Ill. : 1960)
A Bhattacharjee, M Acharya, A Mukhopadhyay, S Mookherjee, D Banerjee, AK Bandopadhyay, SK Thakur, A Sen, K Ray
Publication Date: 2007-06

Variant appearance in text: MYOC: Q368X
PubMed Link: 17562996
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Pro370Leu mutant myocilin disturbs the endoplasm reticulum stress response and mitochondrial membrane potential in human trabecular meshwork cells.

Molecular Vision
L Wang, Y Zhuo, B Liu, S Huang, F Hou, J Ge
Publication Date: 2007-04-19

Variant appearance in text: TIGR: Q368X
PubMed Link: 17515882
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Genetic etiologies of glaucoma.

Archives Of Ophthalmology (Chicago, Ill. : 1960)
JL Wiggs
Publication Date: 2007-01

Variant appearance in text: MYOC: Q368X
PubMed Link: 17210849
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Aggregated myocilin induces russell bodies and causes apoptosis: implications for the pathogenesis of myocilin-caused primary open-angle glaucoma.

The American Journal Of Pathology
GH Yam, K Gaplovska-Kysela, C Zuber, J Roth
Publication Date: 2007-01

Variant appearance in text: MYOC: Q368X
PubMed Link: 17200186
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Linkage to 10q22 for maximum intraocular pressure and 1p32 for maximum cup-to-disc ratio in an extended primary open-angle glaucoma pedigree.

Investigative Ophthalmology & Visual Science
JC Charlesworth, TD Dyer, JM Stankovich, J Blangero, DA Mackey, JE Craig, CM Green, SJ Foote, PN Baird, MM Sale
Publication Date: 2005-10

Variant appearance in text: MYOC: Q368X
PubMed Link: 16186355
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Myocilin analysis by DHPLC in French POAG patients: increased prevalence of Q368X mutation.

Human Mutation
R Melki, A Belmouden, A Brézin, HJ Garchon
Publication Date: 2003-08

Variant appearance in text: MYOC: 1102C>T
PubMed Link: 12872267
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Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients.

Human Mutation
K Michels-Rautenstrauss, C Mardin, N Wakili, AM Jünemann, L Villalobos, C Mejia, GC Soley, J Azofeifa, S Ozbey, GO Naumann, A Reis, B Rautenstrauss
Publication Date: 2002-12

Variant appearance in text: MYOC: 1102C>T
PubMed Link: 12442283
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Apolipoprotein E-promoter single-nucleotide polymorphisms affect the phenotype of primary open-angle glaucoma and demonstrate interaction with the myocilin gene.

American Journal Of Human Genetics
B Copin, AP Brézin, F Valtot, JC Dascotte, A Béchetoille, HJ Garchon
Publication Date: 2002-06

Variant appearance in text: MYOC: Q368X
PubMed Link: 11992263
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Rapid mutation detection by the transgenomic wave analyser DHPLC identifies MYOC mutations in patients with ocular hypertension and/or open angle glaucoma.

The British Journal Of Ophthalmology
CJ Cobb, G Scott, RJ Swingler, S Wilson, J Ellis, CJ MacEwen, WH McLean
Publication Date: 2002-02

Variant appearance in text: MYOC: Q368X
PubMed Link: 11815346
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Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor.

Human Molecular Genetics
N Jacobson, M Andrews, AR Shepard, D Nishimura, C Searby, JH Fingert, G Hageman, R Mullins, BL Davidson, YH Kwon, WL Alward, EM Stone, AF Clark, VC Sheffield
Publication Date: 2001-01-15

Variant appearance in text: MYOC: Q368X
PubMed Link: 11152659
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Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma.

Human Molecular Genetics
MF Adam, A Belmouden, P Binisti, AP Brézin, F Valtot, A Béchetoille, JC Dascotte, B Copin, L Gomez, A Chaventré, JF Bach, HJ Garchon
Publication Date: 1997-11

Variant appearance in text: TIGR: Q368*
PubMed Link: 9328473
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000037502.6 c.1102C>T p.Gln368* stop_gained 3/3 -
NM_000261.2 c.1102C>T p.Gln368* stop_gained 3/3 -