{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T21:11:25Z","timestamp":1792185085112,"version":"4.4.0"},"reference-count":19,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T00:00:00Z","timestamp":1738368000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T00:00:00Z","timestamp":1738368000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,1,22]],"date-time":"2025-01-22T00:00:00Z","timestamp":1737504000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular and Cellular Probes"],"published-print":{"date-parts":[[2025,2]]},"DOI":"10.1016\/j.mcp.2025.102014","type":"journal-article","created":{"date-parts":[[2025,1,28]],"date-time":"2025-01-28T02:17:09Z","timestamp":1738030629000},"page":"102014","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"special_numbering":"C","title":["A comprehensive report of the clinical and mutational profiles of 30 Iranian malignant infantile osteopetrosis patients"],"prefix":"10.1016","volume":"79","author":[{"given":"Akbar","family":"Amirfiroozy","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryam","family":"Naghinejad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Azim","family":"Rezamand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamid","family":"Farhangi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zahra","family":"Golchehre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hossein","family":"Jalali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8381-0591","authenticated-orcid":false,"given":"Mohammad","family":"Taheri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad","family":"Keramatipour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"74","key":"10.1016\/j.mcp.2025.102014_bib1","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1136\/adc.13.74.161","article-title":"Osteopetrosis","volume":"13","author":"Nussey","year":"1938","journal-title":"Arch. Dis. Child."},{"issue":"9","key":"10.1016\/j.mcp.2025.102014_bib2","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1038\/nrendo.2013.137","article-title":"Osteopetrosis: genetics, treatment and new insights into osteoclast function","volume":"9","author":"Sobacchi","year":"2013","journal-title":"Nat. Rev. Endocrinol."},{"key":"10.1016\/j.mcp.2025.102014_bib3","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2024.104936","article-title":"Osteopetrosis and related osteoclast disorders in adults: a review and knowledge gapsOn behalf of the European calcified tissue society and ERN BOND","author":"Funck-Brentano","year":"2024","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.mcp.2025.102014_bib4","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1750-1172-4-5","article-title":"Osteopetrosis","volume":"4","author":"Stark","year":"2009","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.mcp.2025.102014_bib5","doi-asserted-by":"crossref","first-page":"85","DOI":"10.3389\/fendo.2019.00085","article-title":"One disease, many genes: implications for the treatment of osteopetroses","volume":"10","author":"Penna","year":"2019","journal-title":"Front. Endocrinol."},{"issue":"1","key":"10.1016\/j.mcp.2025.102014_bib6","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s12920-021-01117-4","article-title":"Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants","volume":"14","author":"Liu","year":"2021","journal-title":"BMC Med. Genom."},{"key":"10.1016\/j.mcp.2025.102014_bib7","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1007\/s11914-018-0415-2","article-title":"Genetics of osteopetrosis","volume":"16","author":"Palagano","year":"2018","journal-title":"Curr. Osteoporos. Rep."},{"key":"10.1016\/j.mcp.2025.102014_bib8","doi-asserted-by":"crossref","DOI":"10.1016\/j.bone.2023.116723","article-title":"Autosomal dominant osteopetrosis","volume":"170","author":"Polgreen","year":"2023","journal-title":"Bone"},{"issue":"3","key":"10.1016\/j.mcp.2025.102014_bib9","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1210\/jc.2006-1986","article-title":"Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation","volume":"92","author":"Waguespack","year":"2007","journal-title":"The Journal of Clinical Endocrinology & Metabolism"},{"issue":"5","key":"10.1016\/j.mcp.2025.102014_bib10","doi-asserted-by":"crossref","first-page":"dmm048940","DOI":"10.1242\/dmm.048940","article-title":"Autosomal recessive osteopetrosis: mechanisms and treatments","volume":"14","author":"Penna","year":"2021","journal-title":"Disease Models & Mechanisms"},{"issue":"9","key":"10.1016\/j.mcp.2025.102014_bib11","doi-asserted-by":"crossref","first-page":"3111","DOI":"10.1210\/jc.2017-01127","article-title":"Diagnosis and management of osteopetrosis: consensus guidelines from the osteopetrosis working group","volume":"102","author":"Wu","year":"2017","journal-title":"The Journal of Clinical Endocrinology & Metabolism"},{"issue":"3","key":"10.1016\/j.mcp.2025.102014_bib12","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1038\/77131","article-title":"Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis","volume":"25","author":"Frattini","year":"2000","journal-title":"Nat. Genet."},{"key":"10.1016\/j.mcp.2025.102014_bib13","series-title":"Principles of Bone Biology","first-page":"1553","article-title":"Osteopetrosis","author":"Maurizi","year":"2020"},{"issue":"4","key":"10.1016\/j.mcp.2025.102014_bib14","doi-asserted-by":"crossref","first-page":"383","DOI":"10.18699\/VJGB-23-46","article-title":"Clinical, genetic aspects and molecular pathogenesis of osteopetrosis","volume":"27","author":"Nadyrshina","year":"2023","journal-title":"Vavilov Journal of Genetics and Breeding"},{"key":"10.1016\/j.mcp.2025.102014_bib15","first-page":"13","article-title":"DNA extraction and quantitation of forensic samples using the phenol-chloroform method and real-time PCR","author":"K\u00f6chl","year":"2005","journal-title":"Forensic DNA typing protocols"},{"issue":"1","key":"10.1016\/j.mcp.2025.102014_bib16","doi-asserted-by":"crossref","first-page":"E1071","DOI":"10.1002\/humu.21167","article-title":"Molecular and clinical heterogeneity in CLCN7\u2010dependent osteopetrosis: report of 20 novel mutations","volume":"31","author":"Pangrazio","year":"2010","journal-title":"Hum. Mutat."},{"issue":"11","key":"10.1016\/j.mcp.2025.102014_bib17","doi-asserted-by":"crossref","first-page":"1456","DOI":"10.1038\/aps.2017.108","article-title":"Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families","volume":"38","author":"Zhang","year":"2017","journal-title":"Acta Pharmacol. Sin."},{"key":"10.1016\/j.mcp.2025.102014_bib18","article-title":"Case report: gene mutations and clinical characteristics of four patients with osteopetrosis","volume":"11","author":"Chen","year":"2023","journal-title":"Frontiers in Pediatrics"},{"key":"10.1016\/j.mcp.2025.102014_bib19","series-title":"Lehninger Principles of Biochemistry","author":"Nelsen","year":"2021"}],"container-title":["Molecular and Cellular Probes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0890850825000076?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0890850825000076?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,2,14]],"date-time":"2025-02-14T14:05:06Z","timestamp":1739541906000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0890850825000076"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2]]},"references-count":19,"alternative-id":["S0890850825000076"],"URL":"https:\/\/doi.org\/10.1016\/j.mcp.2025.102014","relation":{},"ISSN":["0890-8508"],"issn-type":[{"value":"0890-8508","type":"print"}],"subject":[],"published":{"date-parts":[[2025,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A comprehensive report of the clinical and mutational profiles of 30 Iranian malignant infantile osteopetrosis patients","name":"articletitle","label":"Article Title"},{"value":"Molecular and Cellular Probes","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mcp.2025.102014","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Author(s). Published by Elsevier Ltd.","name":"copyright","label":"Copyright"}],"article-number":"102014"}}