{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T17:46:20Z","timestamp":1782841580276,"version":"3.54.5"},"reference-count":39,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2001,11,1]],"date-time":"2001-11-01T00:00:00Z","timestamp":1004572800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2001,11,1]],"date-time":"2001-11-01T00:00:00Z","timestamp":1004572800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Human Pathology"],"published-print":{"date-parts":[[2001,11]]},"DOI":"10.1053\/hupa.2001.28954","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T07:23:34Z","timestamp":1027668214000},"page":"1245-1251","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"title":["Immunoexpression of neurofibromin, S-100 protein, and leu-7 and mutation analysis of the NF1 gene at codon 1423 in osteofibrous dysplasia"],"prefix":"10.1053","volume":"32","author":[{"given":"Akio","family":"Sakamoto","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshinao","family":"Oda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yumi","family":"Oshiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sadafumi","family":"Tamiya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukihide","family":"Iwamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masazumi","family":"Tsuneyoshi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1053\/hupa.2001.28954_bib1","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1136\/jmg.26.11.704","article-title":"A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity","volume":"26","author":"Huson","year":"1989","journal-title":"J Med Genet"},{"key":"10.1053\/hupa.2001.28954_bib2","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1016\/0896-6273(92)90270-N","article-title":"The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes","volume":"8","author":"Daston","year":"1992","journal-title":"Neuron"},{"key":"10.1053\/hupa.2001.28954_bib3","doi-asserted-by":"crossref","first-page":"9658","DOI":"10.1073\/pnas.88.21.9658","article-title":"Identification of the neurofibromatosis type 1 gene product","volume":"88","author":"Gutmann","year":"1991","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1053\/hupa.2001.28954_bib4","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1016\/0092-8674(90)90024-9","article-title":"The neurofibromatosis type 1 gene encodes a protein related to GAP","volume":"62","author":"Xu","year":"1990","journal-title":"Cell"},{"key":"10.1053\/hupa.2001.28954_bib5","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1016\/0092-8674(90)90150-D","article-title":"The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21","volume":"63","author":"Martin","year":"1990","journal-title":"Cell"},{"key":"10.1053\/hupa.2001.28954_bib6","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1002\/jnr.490360212","article-title":"Modulation of the neurofibromatosis type 1 gene product, neurofibromin, during Schwann cell differentiation","volume":"36","author":"Gutmann","year":"1993","journal-title":"J Neurosci Res"},{"key":"10.1053\/hupa.2001.28954_bib7","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/ng0293-97","article-title":"NF1: A prevalent cause of tumorigenesis in human cancers?","volume":"3","author":"Seizinger","year":"1993","journal-title":"Nat Genet"},{"key":"10.1053\/hupa.2001.28954_bib8","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1093\/ajcp\/69.1.91","article-title":"Ossifying fibroma of long bone: Its distinction from fibrous dysplasia and its association with adamantinoma of long bone","volume":"69","author":"Markel","year":"1978","journal-title":"Am J Clin Pathol"},{"key":"10.1053\/hupa.2001.28954_bib9","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1002\/1097-0142(19890801)64:3<730::AID-CNCR2820640327>3.0.CO;2-P","article-title":"Adamantinoma of long bones. A clinicopathologic study of 85 cases","volume":"64","author":"Keeney","year":"1989","journal-title":"Cancer"},{"key":"10.1053\/hupa.2001.28954_bib10","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1002\/ajmg.1320430513","article-title":"Neurofibromatosis 1 and osseous fibrous dysplasia in a family","volume":"43","author":"Schotland","year":"1992","journal-title":"Am J Med Genet"},{"key":"10.1053\/hupa.2001.28954_bib11","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1097\/01202412-200001000-00003","article-title":"Congenital pseudarthrosis of the tibia: History, etiology, classification, and epidemiologic data","volume":"9","author":"Hefti","year":"2000","journal-title":"J Pediatr Orthop B"},{"key":"10.1053\/hupa.2001.28954_bib12","doi-asserted-by":"crossref","first-page":"618","DOI":"10.2106\/00004623-195032030-00016","article-title":"The possible relationship of neurofibromatosis, congenital pseudoarthrosis and fibrous dysplasia","volume":"32","author":"Aegerter","year":"1950","journal-title":"J Bone Joint Surg Am"},{"key":"10.1053\/hupa.2001.28954_bib13","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.2106\/00004623-195840060-00006","article-title":"Congenital pseudoarthrosis of the tibia","volume":"40","author":"Boyd","year":"1958","journal-title":"J Bone Joint Surg Am"},{"key":"10.1053\/hupa.2001.28954_bib14","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1007\/BF00266070","article-title":"The differential diagnosis of congenital pseudarthrosis of the tibia","volume":"4","author":"Campanacci","year":"1981","journal-title":"Int Orthop"},{"key":"10.1053\/hupa.2001.28954_bib15","doi-asserted-by":"crossref","first-page":"367","DOI":"10.2106\/00004623-198163030-00007","article-title":"Osteofibrous dysplasia of the tibia and fibula","volume":"63","author":"Campanacci","year":"1981","journal-title":"J Bone Joint Surg Am"},{"key":"10.1053\/hupa.2001.28954_bib16","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1097\/01202412-200001000-00002","article-title":"Pathology of bone lesions associated with congenital pseudarthrosis of the leg","volume":"9","author":"Ippolito","year":"2000","journal-title":"J Pediatr Orthop B"},{"key":"10.1053\/hupa.2001.28954_bib17","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1056\/NEJM193704292161701","article-title":"Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction with precocious puberty in females","volume":"216","author":"Arbright","year":"1937","journal-title":"N Engl J Med"},{"key":"10.1053\/hupa.2001.28954_bib18","first-page":"1059","article-title":"Increased proliferation of osteoblastic cells expressing the activating Gs alpha mutation in monostotic and polyostotic fibrous dysplasia","volume":"150","author":"Marie","year":"1997","journal-title":"Am J Pathol"},{"key":"10.1053\/hupa.2001.28954_bib19","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/S1525-1578(10)60618-6","article-title":"A comparative study of fibrous dysplasia and osteofibrous dysplasia with regard to Gs alpha mutation at the Arg201 codon: Polymerase chain reaction-restriction fragment length polymorphism analysis of paraffin-embedded tissues","volume":"2","author":"Sakamoto","year":"2000","journal-title":"J Mol Diagn"},{"key":"10.1053\/hupa.2001.28954_bib20","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/0092-8674(92)90408-5","article-title":"Somatic mutations in the neurofibromatosis 1 gene in human tumors","volume":"69","author":"Li","year":"1992","journal-title":"Cell"},{"key":"10.1053\/hupa.2001.28954_bib21","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1038\/356663a0","article-title":"Ras regulation. NF is enough of GAP","volume":"356","author":"Bollag","year":"1992","journal-title":"Nature"},{"key":"10.1053\/hupa.2001.28954_bib22","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1002\/jnr.490360212","article-title":"Modulation of the neurofibromatosis type 1 gene product, neurofibromin, during Schwann cell differentiation","volume":"36","author":"Gutmann","year":"1993","journal-title":"J Neurosci Res"},{"key":"10.1053\/hupa.2001.28954_bib23","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1097\/01241398-199309000-00004","article-title":"Aggressive bone tumorous lesion in infancy: Osteofibrous dysplasia of the tibia and fibula","volume":"13","author":"Komiya","year":"1993","journal-title":"J Pediatric Orthop"},{"key":"10.1053\/hupa.2001.28954_bib24","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1016\/S0046-8177(85)80016-2","article-title":"S-100 protein immunostaining in the differential diagnosis of chondroblastoma","volume":"16","author":"Monda","year":"1985","journal-title":"Hum Pathol"},{"key":"10.1053\/hupa.2001.28954_bib25","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1111\/j.1365-2559.1993.tb00163.x","article-title":"Mechanism of pain in osteoid osteomas: An immunohistochemical study","volume":"22","author":"Hasegawa","year":"1993","journal-title":"Histopathology"},{"key":"10.1053\/hupa.2001.28954_bib26","first-page":"175","article-title":"Osteoid osteoma: the uniquely innervated bone tumor","volume":"11","author":"O'Connell","year":"1998","journal-title":"Mod Pathol"},{"key":"10.1053\/hupa.2001.28954_bib27","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1038\/ng0293-122","article-title":"Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumor suppressor gene hypothesis","volume":"3","author":"Legius","year":"1993","journal-title":"Nat Genet"},{"key":"10.1053\/hupa.2001.28954_bib28","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1016\/S0002-9440(10)65322-9","article-title":"Urinary bladder transitional cell carcinogenesis is associated with down-regulation of NF1 tumor suppressor gene in vivo and in vitro","volume":"154","author":"Aaltonen","year":"1999","journal-title":"Am J Pathol"},{"key":"10.1053\/hupa.2001.28954_bib29","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/0165-4608(94)00267-F","article-title":"Absence of mutation at the GAP-related domain of the neurofibromatosis type 1 gene in sporadic neurofibrosarcomas and other bone and soft tissue sarcomas","volume":"81","author":"Gomez","year":"1995","journal-title":"Cancer Genet Cytogenet"},{"key":"10.1053\/hupa.2001.28954_bib30","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1007\/BF02026689","article-title":"Congenital ossifying fibroma (osteofibrous dysplasia) of the tibia\u2014A case report","volume":"21","author":"Smith","year":"1991","journal-title":"Pediatr Radiol"},{"key":"10.1053\/hupa.2001.28954_bib31","first-page":"36","article-title":"On theory and practice of congenital pseudarthroses of the lower leg","volume":"119","author":"Blauth","year":"1981","journal-title":"Orthop"},{"key":"10.1053\/hupa.2001.28954_bib32","doi-asserted-by":"crossref","first-page":"1746","DOI":"10.1002\/1097-0142(19940315)73:6<1746::AID-CNCR2820730632>3.0.CO;2-W","article-title":"Clonal chromosomal abnormalities in osteofibrous dysplasia. Implications for histopathogenesis and its relationship with adamantinoma","volume":"73","author":"Bridge","year":"1994","journal-title":"Cancer"},{"key":"10.1053\/hupa.2001.28954_bib33","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1111\/j.1365-2559.1994.tb00600.x","article-title":"Cytokeratin expression and distribution in adamantinoma of the long bones and osteofibrous dysplasia of tibia and fibula. An immunohistochemical study correlated to histogenesis","volume":"25","author":"Benassi","year":"1994","journal-title":"Histopathology"},{"key":"10.1053\/hupa.2001.28954_bib34","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1016\/S0046-8177(98)90449-X","article-title":"Osteofibrous dysplasia-like adamantinoma of bone: A report of five cases with immunohistochemical and ultrastructural studies","volume":"29","author":"Kuruvilla","year":"1998","journal-title":"Hum Pathol"},{"key":"10.1053\/hupa.2001.28954_bib35","doi-asserted-by":"crossref","first-page":"2319","DOI":"10.1002\/1097-0142(19891201)64:11<2319::AID-CNCR2820641123>3.0.CO;2-0","article-title":"Morphologic diversity of long bone adamantinoma. The concept of differentiated (regressing) adamantinoma and its relationship to osteofibrous dysplasia","volume":"64","author":"Czerniak","year":"1989","journal-title":"Cancer"},{"key":"10.1053\/hupa.2001.28954_bib36","doi-asserted-by":"crossref","first-page":"1339","DOI":"10.1016\/0046-8177(93)90268-L","article-title":"Osteofibrous dysplasia: Clinicopathologic study of 80 cases","volume":"24","author":"Park","year":"1993","journal-title":"Hum Pathol"},{"key":"10.1053\/hupa.2001.28954_bib37","doi-asserted-by":"crossref","first-page":"2319","DOI":"10.1002\/1097-0142(19891201)64:11<2319::AID-CNCR2820641123>3.0.CO;2-0","article-title":"Morphologic diversity of long bone adamantinoma. The concept of differentiated (regressing) adamantinoma and its relationship to osteofibrous dysplasia","volume":"64","author":"Czerniak","year":"1989","journal-title":"Cancer"},{"key":"10.1053\/hupa.2001.28954_bib38","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1093\/ajcp\/69.1.91","article-title":"Ossifying fibroma of long bone: its distinction from fibrous dysplasia and its association with adamantinoma of long bone","volume":"69","author":"Markel","year":"1978","journal-title":"Am J Clin Pathol"},{"key":"10.1053\/hupa.2001.28954_bib39","doi-asserted-by":"crossref","first-page":"1418","DOI":"10.1016\/S0046-8177(99)90162-4","volume":"30","author":"Sakamoto","year":"1999","journal-title":"Hum Pathol"}],"container-title":["Human Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0046817701204018?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0046817701204018?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,23]],"date-time":"2025-09-23T16:30:12Z","timestamp":1758645012000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0046817701204018"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,11]]},"references-count":39,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2001,11]]}},"alternative-id":["S0046817701204018"],"URL":"https:\/\/doi.org\/10.1053\/hupa.2001.28954","relation":{},"ISSN":["0046-8177"],"issn-type":[{"value":"0046-8177","type":"print"}],"subject":[],"published":{"date-parts":[[2001,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Immunoexpression of neurofibromin, S-100 protein, and leu-7 and mutation analysis of the NF1 gene at codon 1423 in osteofibrous dysplasia","name":"articletitle","label":"Article Title"},{"value":"Human Pathology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1053\/hupa.2001.28954","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2001 W.B. Saunders Company. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}