{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T21:15:31Z","timestamp":1777929331880,"version":"3.51.4"},"reference-count":21,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[1999,6,1]],"date-time":"1999-06-01T00:00:00Z","timestamp":928195200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Lupus"],"published-print":{"date-parts":[[1999,6]]},"abstract":"<jats:p>Genetic predisposition contributes to scoliosis in humans. Two syndromes of primary scoliosis occur \u2014 congenital scoliosis, which presents at birth, often associated with other abnormalities, and idiopathic scoliosis which becomes apparent between infancy and adolescence. Little is known regarding the genetic transmission of scoliosis risk.<\/jats:p>\n                  <jats:p>Data gleaned from mouse mutations provide a valuable supplement to human family studies. More than 50 mouse mutations include scoliosis, kyphosis, or tail kinks as a phenotype; the locations of the human homologues for 28 of these can be predicted on the basis of synteny conservation. Some mouse mutations are either more penetrant or more fully expressed in one sex. The mouse data provide a basis both for optimism and for caution in understanding human scoliosis. Mouse models provide insight into mechanisms underlying spinal curvature and help direct searches for genes important in human disease. Four types of defects account for most mouse scoliosis: defects of cell\u2013cell communication, intracellular signal transduction, matrix protein synthesis, and matrix protein metabolism. Mouse data suggest that at least two types of heterogeneity complicate genetic analysis: locus heterogeneity, in which lesions of distinct genes lead to a similar phenotype, and allelic heterogeneity, in which the phenotypes arising from alleles of a single gene differ. By focusing initial studies on multiplex families with apparent simple Mendelian inheritance the effect of heterogeneity is minimized.<\/jats:p>","DOI":"10.1177\/096120339900800505","type":"journal-article","created":{"date-parts":[[2006,11,2]],"date-time":"2006-11-02T22:11:54Z","timestamp":1162505514000},"page":"356-360","source":"Crossref","is-referenced-by-count":18,"title":["A genomic approach to scoliosis pathogenesis"],"prefix":"10.1177","volume":"8","author":[{"given":"R D","family":"Blank","sequence":"first","affiliation":[{"name":"The Sanford and Joan Weill College of Medicine of Cornell University, New                         York, USA; Spine Service and Mineralized Tissue Group, The Hospital for                         Special Surgery, New York, USA; Mineralized Tissue Group, The Hospital for                         Special Surgery, 535 East 70th Street, New York, NY 10021, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C L","family":"Raggio","sequence":"additional","affiliation":[{"name":"Spine Service and Mineralized Tissue Group, The Hospital for Special                         Surgery, New York, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P F","family":"Giampietro","sequence":"additional","affiliation":[{"name":"The Sanford and Joan Weill College of Medicine of Cornell University, New                         York, USA; Division of Clinical Genetics, Cornell University, New York, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N P","family":"Camacho","sequence":"additional","affiliation":[{"name":"Spine Service and Mineralized Tissue Group, The Hospital for Special                         Surgery, New York, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[1999,6,1]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-195537060-00012"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-197860020-00005"},{"key":"atypb3","first-page":"33","volume":"126","author":"Lonstein, JE","year":"1977","journal-title":"Clin Orthop"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-198466090-00010"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1016\/S0030-5898(20)30773-2"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-198365040-00004"},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1097\/00007632-198803000-00004"},{"key":"atypb8","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1097\/00003086-198804000-00009","volume":"229","author":"Bradford DS","year":"1988","journal-title":"Clin Orthop"},{"key":"atypb9","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-196951010-00014"},{"key":"atypb10","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-197355050-00006"},{"key":"atypb11","first-page":"148","volume":"46","author":"MartinMartinJ","year":"1997","journal-title":"An Esp Pediatr"},{"key":"atypb12","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.1.3816.328"},{"key":"atypb13","doi-asserted-by":"publisher","DOI":"10.1097\/00003086-197207000-00018"},{"key":"atypb14","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.4.4.251"},{"key":"atypb15","doi-asserted-by":"publisher","DOI":"10.1097\/00007632-199709010-00014"},{"key":"atypb16","doi-asserted-by":"publisher","DOI":"10.1302\/0301-620X.50B1.24"},{"key":"atypb17","volume-title":"Human\/Mouse Homology Relationships","year":"1997"},{"key":"atypb18","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0209"},{"key":"atypb19","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990319)83:3<164::AID-AJMG5>3.0.CO;2-D"},{"key":"atypb20","unstructured":"Mouse Genome Database (MGD), Mouse Genome Informatics [program]. The Jackson                 Laboratory, Bar Harbor, ME, 1998."},{"key":"atypb21","unstructured":"Online Mendelian Inheritance in Man, OMIM (TM). Center for Medical Genetics,                 Johns Hopkins University and National Center for Biotechnology Information, National                 Library of Medicine, Baltimore, MD and Bethesda, MD, 1997."}],"container-title":["Lupus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/096120339900800505","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/096120339900800505","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T23:34:57Z","timestamp":1777678497000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/096120339900800505"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999,6]]},"references-count":21,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1999,6]]}},"alternative-id":["10.1177\/096120339900800505"],"URL":"https:\/\/doi.org\/10.1177\/096120339900800505","relation":{},"ISSN":["0961-2033","1477-0962"],"issn-type":[{"value":"0961-2033","type":"print"},{"value":"1477-0962","type":"electronic"}],"subject":[],"published":{"date-parts":[[1999,6]]}}}