{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T19:52:35Z","timestamp":1779306755859,"version":"3.51.4"},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,10,17]],"date-time":"2022-10-17T00:00:00Z","timestamp":1665964800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    POPDC1 also known as BVES, is a highly conserved transmembrane protein, important for striated muscle function and homeostasis. Pathogenic variants in the\n                    <jats:italic>POPDC1<\/jats:italic>\n                    gene are associated with limb\u2010girdle muscular dystrophy type 25 (LGMDR25). In the present study, we performed trio\u2010whole exome sequencing (WES) followed by Sanger sequencing on a single family having LGMD clinical features. Protein modeling of all POPDC1 missense variants (POPDC1\n                    <jats:sup>Pro134Leu<\/jats:sup>\n                    , POPDC1\n                    <jats:sup>Ile193Ser<\/jats:sup>\n                    , and POPDC1\n                    <jats:sup>Ser201Phe<\/jats:sup>\n                    ) associated with LGMDR25 were performed using Molecular Dynamics (MD) simulation. We identified a homozygous missense variant (c.401C&gt;T; p.Pro134Leu) in the\n                    <jats:italic>POPDC1<\/jats:italic>\n                    gene. Altered 3D structure, disruptive fluctuation, less compactness, and instability were observed in all the three variants of POPDC1 protein models. In comparison, POPDC1\n                    <jats:sup>Ser201Phe<\/jats:sup>\n                    protein dynamics were more unstable than other variants. Functional study of newly identified variant would add key answers to underlying mechanisms of the disease.\n                  <\/jats:p>","DOI":"10.1111\/cge.14238","type":"journal-article","created":{"date-parts":[[2022,9,26]],"date-time":"2022-09-26T04:00:01Z","timestamp":1664164801000},"page":"219-225","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["A novel biallelic variant in the Popeye domain\u2010containing protein 1 (\n                    <scp>POPDC1<\/scp>\n                    ) underlies limb girdle muscle dystrophy type 25"],"prefix":"10.1111","volume":"103","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0309-1230","authenticated-orcid":false,"given":"Arif","family":"Mahmood","sequence":"first","affiliation":[{"name":"Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences Central South University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdus","family":"Samad","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Abdul Wali Khan University  Mardan Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abid Ali","family":"Shah","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences Central South University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdul","family":"Wadood","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Abdul Wali Khan University  Mardan Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Afnan","family":"Alkathiri","sequence":"additional","affiliation":[{"name":"Medical Genetics, Laboratory Medicine Department, Faculty of Applied Medical Sciences Albaha University  Albaha Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed Ali","family":"Alshehri","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory Sciences, Faculty of Applied Medical Sciences Najran University  Najran Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad Zubair","family":"Alam","sequence":"additional","affiliation":[{"name":"Pre\u2010Clinical Research Unit, King Fahd Medical Research Center King Abdulaziz University  Jeddah Saudi Arabia"},{"name":"Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences King Abdulaziz University  Jeddah Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taimur","family":"Hussain","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Medical Teaching Institute Bacha Khan Medical Complex  Swabi Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pei","family":"He","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Nanfang Hospital Southern Medical University  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6729-9746","authenticated-orcid":false,"given":"Muhammad","family":"Umair","sequence":"additional","affiliation":[{"name":"Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences Ministry of National Guard Health Affairs (MNGH)  Riyadh Saudi Arabia"},{"name":"Department of Life Sciences, School of Science University of Management and Technology (UMT)  Lahore Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,10,17]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2014.01.036"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/jgm.3412"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab301"},{"issue":"6","key":"e_1_2_11_5_1","first-page":"777","article-title":"Bves: ten years after","volume":"24","author":"Hager HA","year":"2009","journal-title":"Histol 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