{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T06:29:46Z","timestamp":1777357786779,"version":"3.51.4"},"reference-count":19,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,1,5]],"date-time":"2025-01-05T00:00:00Z","timestamp":1736035200000},"content-version":"vor","delay-in-days":65,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007338","name":"Foundation for Barnes-Jewish Hospital","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007338","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011781","name":"Shriners Hospitals for Children","doi-asserted-by":"publisher","award":["71007-STL-22"],"award-info":[{"award-number":["71007-STL-22"]}],"id":[{"id":"10.13039\/100011781","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Bone"],"published-print":{"date-parts":[[2024,11]]},"DOI":"10.1016\/j.bone.2024.117218","type":"journal-article","created":{"date-parts":[[2024,7,30]],"date-time":"2024-07-30T08:18:57Z","timestamp":1722327537000},"page":"117218","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"special_numbering":"C","title":["Transmembrane protein 53 craniotubular dysplasia (OMIM # 619727): The skeletal disease and consequent blindness of this new disorder"],"prefix":"10.1016","volume":"188","author":[{"given":"Michael P.","family":"Whyte","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert S.","family":"Weinstein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul H.","family":"Phillips","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William H.","family":"McAlister","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raghuhr H.","family":"Ramakrishnaiah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. Bradley","family":"Schaefer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rongsheng","family":"Cai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michele R.","family":"Hutchison","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shenghui","family":"Duan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gary S.","family":"Gottesman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven","family":"Mumm","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.bone.2024.117218_bb0005","doi-asserted-by":"crossref","first-page":"2046","DOI":"10.1038\/s41467-021-22340-8","article-title":"Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling","volume":"12","author":"Guo","year":"2021","journal-title":"Nat. Commun."},{"key":"10.1016\/j.bone.2024.117218_bb0010","unstructured":"Online Mendelian Inheritance in Man, OMIM\u00ae. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD), World Wide Web URL: http:\/\/omim.org\/. Accessed May 20, 2024."},{"key":"10.1016\/j.bone.2024.117218_bb0015","doi-asserted-by":"crossref","DOI":"10.1016\/j.bone.2023.116854","article-title":"Osteopetrosis: gene-based nosology and significance","volume":"175","author":"Teti","year":"2023","journal-title":"Bone"},{"key":"10.1016\/j.bone.2024.117218_bb0020","unstructured":"Whyte MP: Sclerosing bone disorders. Chapter #107 In: \u201cPrimer On Metabolic Bone Diseases and Disorders of Mineral Metabolism,\u201d (10th Ed). American Society for Bone and Mineral Research, Wiley-Blackwell, (in press)."},{"key":"10.1016\/j.bone.2024.117218_bb0025","doi-asserted-by":"crossref","first-page":"1438","DOI":"10.1002\/jbmr.5650111010","article-title":"Creatine kinase brain isoenzyme (BB-CK) presence in serum distinguishes osteopetroses among the sclerosing bone disorders","volume":"11","author":"Whyte","year":"1996","journal-title":"J. Bone Miner. Res."},{"issue":"26","key":"10.1016\/j.bone.2024.117218_bb0030","doi-asserted-by":"crossref","first-page":"1698","DOI":"10.1056\/NEJM198812293192603","article-title":"Diminished rates of bone formation in normal black adults","volume":"319","author":"Weinstein","year":"1988","journal-title":"N. Engl. J. Med."},{"issue":"6","key":"10.1016\/j.bone.2024.117218_bb0035","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1002\/jbmr.5650020617","article-title":"Bone histomorphometry: standardization of nomenclature, symbols, and units. Report of the ASBMR histomorphometry nomenclature committee","volume":"2","author":"Parfitt","year":"1987","journal-title":"J. Bone Miner. Res."},{"issue":"4","key":"10.1016\/j.bone.2024.117218_bb0040","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1016\/S8756-3282(00)00353-7","article-title":"Structural and cellular changes during bone growth in healthy children","volume":"27","author":"Parfitt","year":"2000","journal-title":"Bone"},{"issue":"4","key":"10.1016\/j.bone.2024.117218_bb0045","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1359\/jbmr.060108","article-title":"Cellular activity on the seven surfaces of iliac bone: a histomorphometric study in children and adolescents","volume":"21","author":"Rauch","year":"2006","journal-title":"J. Bone Miner. Res."},{"issue":"1","key":"10.1016\/j.bone.2024.117218_bb0050","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1056\/NEJMoa0802633","article-title":"Giant osteoclast formation and long-term oral bisphosphonate therapy","volume":"360","author":"Weinstein","year":"2009","journal-title":"N. Engl. J. Med."},{"issue":"1","key":"10.1016\/j.bone.2024.117218_bb0055","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1056\/NEJMcp1012926","article-title":"Clinical practice. Glucocorticoid-induced bone disease","volume":"365","author":"Weinstein","year":"2011","journal-title":"N. Engl. J. Med."},{"issue":"8","key":"10.1016\/j.bone.2024.117218_bb0060","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1172\/JCI0214538","article-title":"Promotion of osteoclast survival and antagonism of bisphosphonate-induced osteoclast apoptosis by glucocorticoids","volume":"109","author":"Weinstein","year":"2002","journal-title":"J. Clin. Invest."},{"issue":"12","key":"10.1016\/j.bone.2024.117218_bb0065","doi-asserted-by":"crossref","first-page":"5592","DOI":"10.1210\/en.2006-0459","article-title":"Glucocorticoids act directly on osteoclasts to increase their life span and reduce bone density","volume":"147","author":"Jia","year":"2006","journal-title":"Endocrinology"},{"issue":"2","key":"10.1016\/j.bone.2024.117218_bb0070","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1172\/JCI2799","article-title":"Inhibition of osteoblastogenesis and promotion of apoptosis of osteoblasts and osteocytes by glucocorticoids. Potential mechanisms of their deleterious effects on bone","volume":"102","author":"Weinstein","year":"1998","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.bone.2024.117218_bb0075","article-title":"SIFT web server: predicting effects of amino acid substitutions on proteins","volume":"W452\u20137","author":"Sim","year":"2012","journal-title":"Nucleic Acids Res. (Web Server Issue)"},{"issue":"4","key":"10.1016\/j.bone.2024.117218_bb0080","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat. Methods"},{"issue":"4","key":"10.1016\/j.bone.2024.117218_bb0085","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0018762","article-title":"A flow cytometry-based screen of nuclear envelope transmembrane proteins identifies NET4\/Tmem53 as involved in stress-dependent cell cycle withdrawal","volume":"6","author":"Korfali","year":"2011","journal-title":"PloS One"},{"key":"10.1016\/j.bone.2024.117218_bb0090","series-title":"Genetics of Bone Biology and Skeletal Disease","first-page":"523","article-title":"Fibrodysplasia (myositis) ossificans progressiva","author":"Convente","year":"2018"},{"key":"10.1016\/j.bone.2024.117218_bb0095","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1359\/jbmr.2001.16.10.1754","article-title":"The loss of Smad3 results in a lower rate of bone formation and osteopenia through dysregulation of osteoblast differentiation and apoptosis","volume":"16","author":"Borton","year":"2001","journal-title":"J. Bone Miner. Res."}],"container-title":["Bone"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328224002072?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328224002072?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,1,10]],"date-time":"2025-01-10T17:51:32Z","timestamp":1736531492000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S8756328224002072"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11]]},"references-count":19,"alternative-id":["S8756328224002072"],"URL":"https:\/\/doi.org\/10.1016\/j.bone.2024.117218","relation":{},"ISSN":["8756-3282"],"issn-type":[{"value":"8756-3282","type":"print"}],"subject":[],"published":{"date-parts":[[2024,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Transmembrane protein 53 craniotubular dysplasia (OMIM # 619727): The skeletal disease and consequent blindness of this new disorder","name":"articletitle","label":"Article Title"},{"value":"Bone","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bone.2024.117218","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"117218"}}