{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T17:26:54Z","timestamp":1767979614148,"version":"3.49.0"},"reference-count":36,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2020,7,21]],"date-time":"2020-07-21T00:00:00Z","timestamp":1595289600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"DOI":"10.3389\/fgene.2020.00749","type":"journal-article","created":{"date-parts":[[2020,7,21]],"date-time":"2020-07-21T07:48:36Z","timestamp":1595317716000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":8,"title":["Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism"],"prefix":"10.3389","volume":"11","author":[{"given":"Nousheen","family":"Bibi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asmat","family":"Ullah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lubna","family":"Darwesh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Waqas","family":"Khan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tanzeela","family":"Khan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kalim","family":"Ullah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bushra","family":"Khan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wasim","family":"Ahmad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Umm-e-Kalsoom","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2020,7,21]]},"reference":[{"key":"B1","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.04543","article-title":"An intracellular anion channel critical for pigmentation.","volume":"3","author":"Bellono","year":"2014","journal-title":"eLife"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0129273","article-title":"Membrane-Associated Transporter Protein (MATP) Regulates Melanosomal pH and Influences Tyrosinase Activity.","volume":"10","author":"Bin","year":"2015","journal-title":"PLoS One"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1002708","article-title":"CAVER 3.0: a tool for the analysis of transport pathways in dynamic protein structures.","volume":"8","author":"Chovancova","year":"2012","journal-title":"PLoS Comput. Biol."},{"key":"B4","doi-asserted-by":"publisher","first-page":"26226","DOI":"10.1074\/jbc.272.42.26226","article-title":"Evidence of the indirect formation of the catecholic intermediate substrate responsible for the autoactivation kinetics of tyrosinase.","volume":"272","author":"Cooksey","year":"1997","journal-title":"J. Biol. Chem."},{"key":"B5","doi-asserted-by":"publisher","first-page":"1999","DOI":"10.1002\/jcc.10349","article-title":"A point-charge force field for molecular mechanics simulations of proteins based on condensed-phase quantum mechanical calculations.","volume":"24","author":"Duan","year":"2003","journal-title":"J. Comput. Chem."},{"key":"B6","doi-asserted-by":"publisher","first-page":"396","DOI":"10.1016\/s0076-6879(97)77022-8","article-title":"VERIFY3D: Assessment of protein models with three-dimensional profiles.","volume":"277","author":"Eisenberg","year":"1997","journal-title":"Methods Enzymol."},{"key":"B7","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1016\/j.ajhg.2013.01.006","article-title":"Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism.","volume":"92","author":"Gronskov","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"B8","doi-asserted-by":"crossref","DOI":"10.1186\/1750-1172-2-43","article-title":"Oculocutaneous albinism.","volume":"2","author":"Gronskov","year":"2007","journal-title":"Orphanet. J. Rare Dis."},{"key":"B9","first-page":"790","article-title":"Ophthalmo-genetic analysis of Pakistani patients with nonsyndromic oculocutaneous albinism through whole exome sequencing.","volume":"67","author":"Gul","year":"2017","journal-title":"J. Pak. Med. Assoc."},{"key":"B10","doi-asserted-by":"publisher","first-page":"278","DOI":"10.1111\/ahg.12307","article-title":"Genetic studies of multiple consanguineous pakistani families segregating oculocutaneous albinism identified novel and reported mutations.","volume":"83","author":"Gul","year":"2019","journal-title":"Ann. Hum. Genet."},{"key":"B11","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1016\/0263-7855(96)00018-5","article-title":"VMD: visual molecular dynamics.","volume":"14","author":"Humphrey","year":"1996","journal-title":"J. Mol. Graph."},{"key":"B12","doi-asserted-by":"publisher","first-page":"466","DOI":"10.1086\/382195","article-title":"Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.","volume":"74","author":"Inagaki","year":"2004","journal-title":"Am. J. Hum. Genet"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1155\/2014\/905472","article-title":"Mutational analysis of oculocutaneous albinism: A compact review.","volume":"2014","author":"Kamaraj","year":"2014","journal-title":"Biomed. Res. Int."},{"key":"B14","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1111\/cge.12019","article-title":"OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24.","volume":"84","author":"Kausar","year":"","journal-title":"Clin. Genet."},{"key":"B15","doi-asserted-by":"publisher","first-page":"1099","DOI":"10.1038\/jid.2012.432","article-title":"Genetic studies of TYRP1 and SLC45A2 in Pakistani patients with nonsyndromic oculocutaneous albinism.","volume":"133","author":"Kausar","year":"","journal-title":"J. Invest. Dermatol."},{"key":"B16","first-page":"4353","article-title":"Albinism","author":"King","year":"1995","journal-title":"The Metabolic and Molecular Bases of Inherited Disease"},{"key":"B17","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1107\/s0021889892009944","article-title":"PROCHECK: A program to check the stereochemical quality of protein structures.","volume":"26","author":"Laskowski","year":"1993","journal-title":"J. App. Cryst."},{"key":"B18","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1007\/BF00228148","article-title":"AQUA and PROCHECK1NMR: programs for checking the quality of protein structures solved by NMR.","volume":"8","author":"Laskowski","year":"1996","journal-title":"J. Biomol. NMR"},{"key":"B19","doi-asserted-by":"publisher","first-page":"1783","DOI":"10.1101\/gr.7156307","article-title":"A second-generation combined linkage physical map of the human genome.","volume":"17","author":"Matise","year":"2007","journal-title":"Genome Res."},{"key":"B20","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1111\/pcmr.12167","article-title":"Increasing the complexity: new genes and new types of albinism.","volume":"27","author":"Montoliu","year":"2014","journal-title":"Pigment Cell Melanoma Res."},{"key":"B21","doi-asserted-by":"publisher","first-page":"200","DOI":"10.1007\/s004390051090","article-title":"Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.","volume":"105","author":"Passmore","year":"1999","journal-title":"Hum. Genet."},{"key":"B22","doi-asserted-by":"publisher","first-page":"1605","DOI":"10.1002\/jcc.20084","article-title":"UCSF Chimera\u2013a visualization system for exploratory research and analysis.","volume":"25","author":"Pettersen","year":"2004","journal-title":"J. Comput. Chem."},{"key":"B23","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-13-224","article-title":"Improved model quality assessment using ProQ2.","volume":"13","author":"Ray","year":"2012","journal-title":"BMC Bioinformatics"},{"key":"B24","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1111\/j.1755-148x.2008.00496.x","article-title":"Molecular diagnosis of oculocutaneous albinism: New mutations in the OCA1-4 genes and practical aspects.","volume":"21","author":"Rooryck","year":"2008","journal-title":"Pigment Cell Melanoma Res."},{"key":"B25","doi-asserted-by":"publisher","first-page":"774","DOI":"10.1111\/ced.12612","article-title":"Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with Oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase.","volume":"40","author":"Shah","year":"2015","journal-title":"Clin. Exp. Dermatol."},{"key":"B26","doi-asserted-by":"publisher","DOI":"10.1038\/srep44185","article-title":"Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.","volume":"7","author":"Shahzad","year":"2017","journal-title":"Sci. Rep."},{"key":"B27","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1007\/s10384-011-0098-z","article-title":"Molecular Analysis of Korean Patients With Oculocutaneous Albinism.","volume":"56","author":"Shin Hae","year":"2012","journal-title":"Jpn. J. Ophthalmol."},{"key":"B28","doi-asserted-by":"publisher","first-page":"827","DOI":"10.1002\/humu.22315","article-title":"DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.","volume":"34","author":"Simeonov","year":"2013","journal-title":"Hum. Mutat."},{"key":"B29","doi-asserted-by":"publisher","first-page":"2624","DOI":"10.1002\/pro.256","article-title":"MPEx: A tool for exploring membrane proteins.","volume":"18","author":"Snider","year":"2009","journal-title":"Protein Sci."},{"key":"B30","doi-asserted-by":"publisher","first-page":"3258","DOI":"10.1093\/bioinformatics\/bth358","article-title":"TMRPres2D: high quality visual representation of transmembrane protein models.","volume":"22","author":"Spyropoulos","year":"2004","journal-title":"Bioinformatics"},{"key":"B31","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.jdermsci.2007.12.008","article-title":"Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4.","volume":"51","author":"Suzuki","year":"2008","journal-title":"J. Dermatol. Sci."},{"key":"B32","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1007\/s00439-011-1085-7","article-title":"Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3-q21.2 and screening of the candidate genes.","volume":"131","author":"Umm-e-Kalsoom","year":"2012","journal-title":"Hum. Genet."},{"key":"B33","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1016\/0263-7855(90)80070-v","article-title":"WHAT IF: A molecular modeling and drug design program.","volume":"8","author":"Vriend","year":"1990","journal-title":"J. Mol. Graph"},{"key":"B34","doi-asserted-by":"publisher","first-page":"1834","DOI":"10.1038\/jid.2013.49","article-title":"Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic Oculocutaneous albinism.","volume":"133","author":"Wei","year":"2013","journal-title":"J. Invest. Dermatol."},{"key":"B35","doi-asserted-by":"crossref","first-page":"W174","DOI":"10.1093\/nar\/gkv342","article-title":"I-TASSER server: new development for protein structure and function predictions.","volume":"43","author":"Yang","year":"2015","journal-title":"Nucleic Acids Res."},{"key":"B36","first-page":"197","article-title":"Diffusion factor calculation for TIP4P model of water.","volume":"57","author":"Zlenko","year":"2012","journal-title":"Biofizika"}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fgene.2020.00749\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,8,3]],"date-time":"2020-08-03T14:43:15Z","timestamp":1596465795000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fgene.2020.00749\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7,21]]},"references-count":36,"alternative-id":["10.3389\/fgene.2020.00749"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2020.00749","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,7,21]]},"article-number":"749"}}