{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T22:52:45Z","timestamp":1773269565240,"version":"3.50.1"},"reference-count":30,"publisher":"Elsevier BV","issue":"2","content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2013,10]]},"DOI":"10.1016\/j.gene.2013.07.016","type":"journal-article","created":{"date-parts":[[2013,7,22]],"date-time":"2013-07-22T22:16:08Z","timestamp":1374531368000},"page":"356-359","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":19,"title":["The novel heterozygous Thr377Arg MYOC mutation causes severe Juvenile Open Angle Glaucoma in a large Pakistani family"],"prefix":"10.1016","volume":"528","author":[{"given":"Ali Muhammad","family":"Waryah","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ashok Kumar","family":"Narsani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shakeel Ahmad","family":"Sheikh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hina","family":"Shaikh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad Yaqoob","family":"Shahani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2013.07.016_bb0005","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"10.1016\/j.gene.2013.07.016_bb0010","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1016\/j.exer.2008.11.003","article-title":"The genetics of primary open-angle glaucoma: a review","volume":"88","author":"Allingham","year":"2009","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.gene.2013.07.016_bb0015","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1056\/NEJM199804093381503","article-title":"Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)","volume":"338","author":"Alward","year":"1998","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.gene.2013.07.016_bb0020","first-page":"1945","article-title":"The novel Y371D myocilin mutation causes an aggressive form of juvenile open-angle glaucoma in a Caucasian family from the Middle-East","volume":"15","author":"Avisar","year":"2009","journal-title":"Mol. Vis."},{"key":"10.1016\/j.gene.2013.07.016_bb0025","first-page":"1944","article-title":"A novel MYOC heterozygous mutation identified in a Chinese Uygur pedigree with primary open-angle glaucoma","volume":"18","author":"Cai","year":"2012","journal-title":"Mol. Vis."},{"key":"10.1016\/j.gene.2013.07.016_bb0030","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1016\/S0039-6257(02)00353-3","article-title":"Myocilin glaucoma","volume":"47","author":"Fingert","year":"2002","journal-title":"Surv. Ophthalmol."},{"key":"10.1016\/j.gene.2013.07.016_bb0035","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1016\/S0076-6879(96)66034-0","article-title":"GOR method for predicting protein secondary structure from amino acid sequence","volume":"266","author":"Garnier","year":"1996","journal-title":"Methods Enzymol."},{"key":"10.1016\/j.gene.2013.07.016_bb0040","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1001\/archopht.1970.00990040581004","article-title":"Primary open-angle glaucoma in adolescents and young adults","volume":"84","author":"Goldwyn","year":"1970","journal-title":"Arch. Ophthalmol."},{"key":"10.1016\/j.gene.2013.07.016_bb0045","doi-asserted-by":"crossref","first-page":"R91","DOI":"10.1093\/hmg\/ddh074","article-title":"Genetic dissection of myocilin glaucoma","volume":"13","author":"Gong","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2013.07.016_bb0050","doi-asserted-by":"crossref","first-page":"8390","DOI":"10.1093\/nar\/17.20.8390","article-title":"A simple and efficient non-organic procedure for the isolation of genomic DNA from blood","volume":"17","author":"Grimberg","year":"1989","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.gene.2013.07.016_bb0055","first-page":"487","article-title":"Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds","volume":"13","author":"Hewitt","year":"2007","journal-title":"Mol. Vis."},{"key":"10.1016\/j.gene.2013.07.016_bb0060","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1038\/sj.eye.6702745","article-title":"Glaucoma phenotype in a large Swiss pedigree with the myocilin Gly367Arg mutation","volume":"22","author":"Iliev","year":"2008","journal-title":"Eye (Lond.)"},{"key":"10.1016\/j.gene.2013.07.016_bb0065","doi-asserted-by":"crossref","first-page":"171","DOI":"10.2147\/OPTH.S8974","article-title":"Primary open angle glaucoma due to T377M MYOC: population mapping of a Greek founder mutation in Northwestern Greece","volume":"4","author":"Kitsos","year":"2010","journal-title":"Clin. Ophthalmol."},{"key":"10.1016\/j.gene.2013.07.016_bb0070","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1006\/bbrc.1997.7972","article-title":"Genomic organization of the human myocilin gene (MYOC) responsible for primary open angle glaucoma (GLC1A)","volume":"242","author":"Kubota","year":"1998","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.gene.2013.07.016_bb0075","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm","volume":"4","author":"Kumar","year":"2009","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.gene.2013.07.016_bb0080","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1080\/09286580500521023","article-title":"Glaucoma admissions and surgery in public sector tertiary care hospitals in Pakistan: results of a national study","volume":"13","author":"Qureshi","year":"2006","journal-title":"Ophthalmic Epidemiol."},{"key":"10.1016\/j.gene.2013.07.016_bb0085","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1038\/ng0593-47","article-title":"Genetic linkage of familial open angle glaucoma to chromosome 1q21\u2013q31","volume":"4","author":"Sheffield","year":"1993","journal-title":"Nat. Genet."},{"key":"10.1016\/j.gene.2013.07.016_bb0090","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/S0002-9394(00)00536-5","article-title":"Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma","volume":"130","author":"Shimizu","year":"2000","journal-title":"Am. J. Ophthalmol."},{"key":"10.1016\/j.gene.2013.07.016_bb0095","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1136\/jmg.37.4.301","article-title":"Novel mutation in the MYOC gene in primary open glaucoma patients","volume":"37","author":"Vasconcellos","year":"2000","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.gene.2013.07.016_bb0100","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1186\/1471-2105-11-548","article-title":"Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces","volume":"11","author":"Venselaar","year":"2010","journal-title":"BMC Bioinformatics"},{"key":"10.1016\/j.gene.2013.07.016_bb0105","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1086\/338709","article-title":"Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene","volume":"70","author":"Vincent","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.07.016_bb0110","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1038\/jhg.2011.55","article-title":"Molecular and clinical studies of X-linked deafness among Pakistani families","volume":"56","author":"Waryah","year":"2011","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.07.016_bb0115","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1001\/archopht.125.1.30","article-title":"Genetic etiologies of glaucoma","volume":"125","author":"Wiggs","year":"2007","journal-title":"Arch. Ophthalmol."},{"key":"10.1016\/j.gene.2013.07.016_bb0120","first-page":"243","article-title":"The distinction between juvenile and adult-onset primary open-angle glaucoma","volume":"58","author":"Wiggs","year":"1996","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.07.016_bb0125","first-page":"3064","article-title":"Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma","volume":"18","author":"Young","year":"2012","journal-title":"Mol. Vis."},{"key":"10.1016\/j.gene.2013.07.016_bb0130","unstructured":"Primer3, http:\/\/frodo.wi.mit.edu\/primer3\/."},{"key":"10.1016\/j.gene.2013.07.016_bb0135","unstructured":"Polymorphism Phenotyping (Polyphen-2), http:\/\/genetics.bwh.harvard.edu\/pph2\/."},{"key":"10.1016\/j.gene.2013.07.016_bb0140","unstructured":"Sorting Intolerant from Tolerant (SIFT), http:\/\/sift.jcvi.org\/."},{"key":"10.1016\/j.gene.2013.07.016_bb0145","unstructured":"ClustalW2 for Multiple Sequence Alignment, http:\/\/www.ebi.ac.uk\/Tools\/msa\/clustalw2\/."},{"key":"10.1016\/j.gene.2013.07.016_bb0150","unstructured":"Have yOur Protein Explained (HOPE), http:\/\/www.cmbi.ru.nl\/hope\/method."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913008858?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913008858?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,14]],"date-time":"2018-10-14T07:51:07Z","timestamp":1539503467000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111913008858"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,10]]},"references-count":30,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,10]]}},"alternative-id":["S0378111913008858"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2013.07.016","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2013,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The novel heterozygous Thr377Arg MYOC mutation causes severe Juvenile Open Angle Glaucoma in a large Pakistani family","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2013.07.016","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}