{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T14:01:40Z","timestamp":1784642500229,"version":"3.55.0"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T00:00:00Z","timestamp":1784592000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T00:00:00Z","timestamp":1784592000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Arch Osteoporos"],"DOI":"10.1007\/s11657-026-01739-0","type":"journal-article","created":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T01:02:00Z","timestamp":1784595720000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A novel variant in MAFB in a patient with hereditary multicentric carpo-tarsal osteolysis"],"prefix":"10.1007","volume":"21","author":[{"given":"Sarah","family":"Haroon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"L.Shaker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,7,21]]},"reference":[{"issue":"1","key":"1739_CR1","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1148\/108.1.99","volume":"108","author":"E Kohler","year":"1973","unstructured":"Kohler E, Babbitt D, Huizenga B, Good TA (1973) Hereditary osteolysis. A clinical, radiological and chemical study. Radiology 108(1):99\u2013105. https:\/\/doi.org\/10.1148\/108.1.99","journal-title":"Radiology"},{"issue":"6664","key":"1739_CR2","doi-asserted-by":"publisher","DOI":"10.1126\/science.adg7492","volume":"381","author":"J Cheng","year":"2023","unstructured":"Cheng J et al (2023) Accurate proteome-wide missense variant effect prediction with AlphaMissense. Science 381(6664):eadg7492. https:\/\/doi.org\/10.1126\/science.adg7492","journal-title":"Science"},{"issue":"1","key":"1739_CR3","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1007\/s11914-022-00762-7","volume":"21","author":"NS Ma","year":"2023","unstructured":"Ma NS, Mumm S, Takahashi S, Levine MA (2023) Multicentric carpotarsal osteolysis: a contemporary perspective on the unique skeletal phenotype. Curr Osteoporos Rep 21(1):85\u201394. https:\/\/doi.org\/10.1007\/s11914-022-00762-7","journal-title":"Curr Osteoporos Rep"},{"key":"1739_CR4","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2021.745812","author":"J Wu","year":"2021","unstructured":"Wu J et al (2021) Multicentric carpo-tarsal osteolysis syndrome mimicking juvenile idiopathic arthritis: two case reports and review of the literature. Front Pediatr. https:\/\/doi.org\/10.3389\/fped.2021.745812","journal-title":"Front Pediatr"},{"issue":"1","key":"1739_CR5","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-018-0682-x","volume":"19","author":"PG Park","year":"2018","unstructured":"Park PG et al (2018) Three cases of multicentric carpotarsal osteolysis syndrome: a case series. BMC Med Genet 19(1):164. https:\/\/doi.org\/10.1186\/s12881-018-0682-x","journal-title":"BMC Med Genet"},{"issue":"48","key":"1739_CR6","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000017828","volume":"98","author":"K Miyazaki","year":"2019","unstructured":"Miyazaki K, Komatsubara S, Uno K, Fujihara R, Yamamoto T (2019) A CARE-compliant article: a case report of scoliosis complicated with multicentric carpotarsal osteolysis. Medicine (Baltimore) 98(48):e17828. https:\/\/doi.org\/10.1097\/MD.0000000000017828","journal-title":"Medicine (Baltimore)"},{"issue":"6","key":"1739_CR7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2020.103902","volume":"63","author":"J Li","year":"2020","unstructured":"Li J, Shi L, Lau K, Ma Y, Jia S, Gao X (2020) Identification of a novel mutation in the MAFB gene in a pediatric patient with multicentric carpotarsal osteolysis syndrome using next-generation sequencing. Eur J Med Genet 63(6):103902. https:\/\/doi.org\/10.1016\/j.ejmg.2020.103902","journal-title":"Eur J Med Genet"},{"key":"1739_CR8","doi-asserted-by":"publisher","DOI":"10.3390\/jcm11154423","author":"S Drovandi","year":"2022","unstructured":"Drovandi S et al (2022) Multicentric carpotarsal osteolysis syndrome associated nephropathy: novel variants of MAFB gene and literature review. J Clin Med. https:\/\/doi.org\/10.3390\/jcm11154423","journal-title":"J Clin Med"},{"issue":"4","key":"1739_CR9","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1055\/s-0038-1657760","volume":"7","author":"J Upadia","year":"2018","unstructured":"Upadia J, Gomes A, Weiser P, Descartes M (2018) A familial case of multicentric carpotarsal osteolysis syndrome and treatment outcome. J Pediatr Genet 7(4):174\u2013179. https:\/\/doi.org\/10.1055\/s-0038-1657760","journal-title":"J Pediatr Genet"},{"issue":"3","key":"1739_CR10","doi-asserted-by":"publisher","first-page":"88","DOI":"10.17116\/terarkh201587388-91","volume":"87","author":"VV Dolgikh","year":"2015","unstructured":"Dolgikh VV, Pogodina AV, Knyazeva TS, Rychkova LV, Lutsenko LA (2015) [Multicentric carpotarsal osteolysis in a rheumatologist\u2019s practice]. Ter Arkh 87(3):88\u201391. https:\/\/doi.org\/10.17116\/terarkh201587388-91","journal-title":"Ter Arkh"},{"issue":"8","key":"1739_CR11","doi-asserted-by":"publisher","first-page":"3253","DOI":"10.1182\/blood-2006-09-048249","volume":"109","author":"K Kim","year":"2007","unstructured":"Kim K et al (2007) MafB negatively regulates RANKL-mediated osteoclast differentiation. Blood 109(8):3253\u20133259. https:\/\/doi.org\/10.1182\/blood-2006-09-048249","journal-title":"Blood"},{"key":"1739_CR12","doi-asserted-by":"publisher","first-page":"100747","DOI":"10.1016\/j.bonr.2021.100747","volume":"14","author":"R Regev","year":"2021","unstructured":"Regev R et al (2021) Multicentric carpotarsal osteolysis syndrome (MCTO) with generalized high bone turnover and high serum RANKL: Response to denosumab. Bone Rep 14:100747. https:\/\/doi.org\/10.1016\/j.bonr.2021.100747","journal-title":"Bone Rep"},{"issue":"2","key":"1739_CR13","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1002\/jcb.24387","volume":"114","author":"Y Zhang","year":"2013","unstructured":"Zhang Y, Ross AC (2013) Retinoic acid and the transcription factor MafB act together and differentially to regulate aggrecan and matrix metalloproteinase gene expression in neonatal chondrocytes. J Cell Biochem 114(2):471\u2013479. https:\/\/doi.org\/10.1002\/jcb.24387","journal-title":"J Cell Biochem"},{"issue":"9","key":"1739_CR14","doi-asserted-by":"publisher","first-page":"1923","DOI":"10.1016\/j.ajpath.2017.05.007","volume":"187","author":"S Lazarus","year":"2017","unstructured":"Lazarus S, Tseng H-W, Lawrence F, Woodruff MA, Duncan EL, Pettit AR (2017) Characterization of normal murine carpal bone development prompts re-evaluation of pathologic osteolysis as the cause of human carpal-tarsal osteolysis disorders. Am J Pathol 187(9):1923\u20131934. https:\/\/doi.org\/10.1016\/j.ajpath.2017.05.007","journal-title":"Am J Pathol"},{"key":"1739_CR15","unstructured":"Zarei A, Gottesman GS, Wenkert D, Nenninger A, Duan S, Bijanki VN, Whyte MP, Veis D, Mumm S (2022) MAFB mutations causing multicentric carpotarsal osteolysis disrupt osteoblast and chondrocyte development. J Bone Miner Res 37(Suppl 1):171\u2013172"},{"key":"1739_CR16","doi-asserted-by":"publisher","first-page":"101701","DOI":"10.1016\/j.bonr.2023.101701","volume":"19","author":"B Trinkino","year":"2023","unstructured":"Trinkino B, Ma NS (2023) Treatment of a young child with multicentric carpotarsal osteolysis exhibiting joint inflammation and dysfunctional bone formation. Bone Rep 19:101701. https:\/\/doi.org\/10.1016\/j.bonr.2023.101701","journal-title":"Bone Rep"},{"issue":"15","key":"1739_CR17","doi-asserted-by":"publisher","first-page":"5715","DOI":"10.1128\/MCB.00001-06","volume":"26","author":"T Moriguchi","year":"2006","unstructured":"Moriguchi T et al (2006) MafB is essential for renal development and F4\/80 expression in macrophages. Mol Cell Biol 26(15):5715\u20135727. https:\/\/doi.org\/10.1128\/MCB.00001-06","journal-title":"Mol Cell Biol"},{"key":"1739_CR18","doi-asserted-by":"publisher","first-page":"276","DOI":"10.1038\/s41420-025-02551-4","volume":"11","author":"AB Ventura","year":"2025","unstructured":"Ventura AB et al (2025) \u201cMAFB: a key regulator of myeloid commitment involved in hematological diseases,.\u201d Cell Death Discov 11:276. https:\/\/doi.org\/10.1038\/s41420-025-02551-4","journal-title":"Cell Death Discov"},{"issue":"10","key":"1739_CR19","doi-asserted-by":"publisher","first-page":"2914","DOI":"10.3109\/10428194.2015.1015123","volume":"56","author":"L Yang","year":"2015","unstructured":"Yang L, Liu Y, Zhu L, Xiao M (2015) DNMT3A R882 mutation is associated with elevated expression of MAFB and M4\/M5 immunophenotype of acute myeloid leukemia blasts. Leuk Lymphoma 56(10):2914\u20132922. https:\/\/doi.org\/10.3109\/10428194.2015.1015123","journal-title":"Leuk Lymphoma"},{"issue":"9","key":"1739_CR20","doi-asserted-by":"publisher","first-page":"2287","DOI":"10.1002\/ajmg.a.36641","volume":"0","author":"S Mumm","year":"2014","unstructured":"Mumm S et al (2014) Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis. Am J Med Genet A 0(9):2287\u20132293. https:\/\/doi.org\/10.1002\/ajmg.a.36641","journal-title":"Am J Med Genet A"}],"container-title":["Archives of Osteoporosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11657-026-01739-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s11657-026-01739-0","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11657-026-01739-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T13:06:49Z","timestamp":1784639209000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s11657-026-01739-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,21]]},"references-count":20,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["1739"],"URL":"https:\/\/doi.org\/10.1007\/s11657-026-01739-0","relation":{},"ISSN":["1862-3514"],"issn-type":[{"value":"1862-3514","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,21]]},"assertion":[{"value":"16 March 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 July 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 July 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"None.","order":1,"name":"Ethics","label":"Conflicts of interest","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"101"}}