{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T21:04:20Z","timestamp":1774645460080,"version":"3.50.1"},"reference-count":13,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:p>Sclerosteosis is a rare autosomal recessive condition characterized by increased bone density. Mutations in<jats:italic>SOST<\/jats:italic>gene coding for sclerostin are linked to sclerosteosis. Two Egyptian brothers with sclerosteosis and their apparently normal consanguineous parents were included in this study. Clinical evaluation and genomic sequencing of the<jats:italic>SOST<\/jats:italic>gene were performed followed by in silico analysis of the resulting variation. A novel homozygous frameshift mutation in the<jats:italic>SOST<\/jats:italic>gene, characterized as one nucleotide cytosine insertion that led to premature stop codon and loss of functional sclerostin, was identified in the two affected brothers. Their parents were heterozygous for the same mutation. To our knowledge this is the first Egyptian study of sclerosteosis and<jats:italic>SOST<\/jats:italic>gene causing mutation.<\/jats:p>","DOI":"10.1155\/2015\/517815","type":"journal-article","created":{"date-parts":[[2015,4,23]],"date-time":"2015-04-23T18:19:23Z","timestamp":1429813163000},"page":"1-8","source":"Crossref","is-referenced-by-count":9,"title":["A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis"],"prefix":"10.1155","volume":"2015","author":[{"given":"Alaaeldin","family":"Fayez","sequence":"first","affiliation":[{"name":"Molecular Genetics and Enzymology Department, Human Genetics & Genome Research Division, National Research Centre, 33 El Bohouth Street (Former El Tahrir Street), P.O. Box 12622, Dokki, Giza, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mona","family":"Aglan","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Human Genetics & Genome Research Division, National Research Centre, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nora","family":"Esmaiel","sequence":"additional","affiliation":[{"name":"Molecular Genetics and Enzymology Department, Human Genetics & Genome Research Division, National Research Centre, 33 El Bohouth Street (Former El Tahrir Street), P.O. Box 12622, Dokki, Giza, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taher","family":"El Zanaty","sequence":"additional","affiliation":[{"name":"Department of Medicine, Faculty of Medicine, Cairo University, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed","family":"Abdel Kader","sequence":"additional","affiliation":[{"name":"Department of Orodental Genetics, Medical Research Division, National Research Centre, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mona","family":"El Ruby","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Human Genetics & Genome Research Division, National Research Centre, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2012.10.009"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21274"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.m110.190330"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1530\/eje-11-0132"},{"issue":"3","key":"14","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1136\/jmg.25.3.200","volume":"25","year":"1988","journal-title":"Journal of Medical Genetics"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1086\/302416"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1086\/318811"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1086\/301721"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.2.91"},{"key":"19","doi-asserted-by":"publisher","DOI":"10.1101\/gr.3437105"},{"key":"20","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20031454"},{"key":"21","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2004.05.023"},{"key":"22","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/cdg599"}],"container-title":["BioMed Research International"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2015\/517815.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2015\/517815.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2015\/517815.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,23]],"date-time":"2017-06-23T06:08:24Z","timestamp":1498198104000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/bmri\/2015\/517815\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":13,"alternative-id":["517815","517815"],"URL":"https:\/\/doi.org\/10.1155\/2015\/517815","relation":{},"ISSN":["2314-6133","2314-6141"],"issn-type":[{"value":"2314-6133","type":"print"},{"value":"2314-6141","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015]]}}}