{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T02:59:34Z","timestamp":1783479574136,"version":"3.55.0"},"reference-count":33,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,10,25]],"date-time":"2018-10-25T00:00:00Z","timestamp":1540425600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Rothman Institute"},{"name":"Endo Verein Foundation"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal Orthopaedic Research"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label\/><jats:p>DDH is a debilitating condition characterized by incomplete formation of the acetabulum leading to dislocation of the hip, suboptimal joint function and accelerated wear of the articular cartilage resulting in early onset crippling arthritis of the hip in 20\u201340 year olds. Current diagnostic tests in newborns using physical manipulation of the femur or ultrasound either under or over\u2010diagnose this condition. Developing an accurate, cost effective diagnostic test is a goal of this study. To better understand the biologic pathways involved in acetabular development, DNA from severely affected individuals in a four generation family that showed inter\u2010generational transmission of the disorder was isolated and whole exome sequenced. A novel A to C transversion at position 183721398 on human chromosome four was found to co\u2010segregate with the affected phenotype in this family. This mutation encodes a glutamine to proline change at position 2665 in the Teneurin 3 (TENM3) gene and was judged damaging by four prediction programs. Eight week old knock\u2010in mutant mice show delayed development of the left acetabulum and the left glenoid fossa as shown by the presence of more Alcian blue staining on the socket rims of both the hip and the shoulder. We hypothesize that mutated TENM3 will slow chondrogenesis. MMP13 has been shown to impair extracellular matrix remodeling and suppress differentiation. Bone marrow cells from the knock\u2010in mouse were found to overexpress MMP13 with or without BMP2 stimulation. This variant may elucidate pathways responsible for normal hip development and become part of an accurate test for DDH. \u00a9 2018 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res<\/jats:p><\/jats:sec>","DOI":"10.1002\/jor.24148","type":"journal-article","created":{"date-parts":[[2018,10,1]],"date-time":"2018-10-01T23:45:53Z","timestamp":1538437553000},"page":"171-180","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["Novel mutation in Teneurin 3 found to co\u2010segregate in all affecteds in a multi\u2010generation family with developmental dysplasia of the hip"],"prefix":"10.1002","volume":"37","author":[{"given":"George","family":"Feldman","sequence":"first","affiliation":[{"name":"Thomas Jefferson University Division of Orthopaedic Research Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dietmar","family":"Kappes","sequence":"additional","affiliation":[{"name":"Fox Chase Cancer Center Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jayati","family":"Mookerjee\u2010Basu","sequence":"additional","affiliation":[{"name":"Fox Chase Cancer Center Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theresa","family":"Freeman","sequence":"additional","affiliation":[{"name":"Thomas Jefferson University Division of Orthopaedic Research Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrzej","family":"Fertala","sequence":"additional","affiliation":[{"name":"Thomas Jefferson University Division of Orthopaedic Research Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javad","family":"Parvizi","sequence":"additional","affiliation":[{"name":"Thomas Jefferson University Division of Orthopaedic Research Philadelphia Pennsylvania"},{"name":"Rothman Institute of Orthopaedics Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,10,25]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1080\/00016470510030517"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11999-008-0120-z"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.5435\/JAAOS-21-07-S1"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-200X.2008.02575.x"},{"key":"e_1_2_7_6_1","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1097\/00003086-199208000-00013","article-title":"Etiologic factors in congenital displacement of the hip and myelodysplasia","volume":"281","author":"Wilkinson JA","year":"1992","journal-title":"Clin Orthop Relat Res"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00003086-196801000-00020"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1302\/0301-620X.52B4.704"},{"key":"e_1_2_7_9_1","first-page":"397","article-title":"Congenital dislocation of the hip in the Bantu","volume":"48","author":"Edelstein J","year":"1966","journal-title":"J Bone Joint Surg Br"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-200X.2008.02575.x"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/fn.76.2.F94"},{"key":"e_1_2_7_12_1","volume-title":"Oski's Pediatrics: Principles and Practice, 3ed","author":"McMillan JA","year":"1999"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/BPO.0b013e3181aa586b"},{"key":"e_1_2_7_14_1","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1097\/00003086-198712000-00007","article-title":"Natural history of congenital hip dislocation (CDH) and hip dysplasia","volume":"225","author":"Weinstein SL","year":"1987","journal-title":"Clin Orthop Relat Res"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11999-009-1073-6"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.arth.2011.10.016"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.1999"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.113910"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0046688"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0810-575"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/prot.20252"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1001025"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00223-004-1041-9"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btq662"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-2836(82)90505-8"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7580.2010.01267.x"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1086\/302291"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.3109\/03008207.2012.700346"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.7196\/SAMJnew.7917"},{"key":"e_1_2_7_30_1","first-page":"1369","article-title":"Early articular cartilage degeneration in a developmental dislocation of the hip model results from activation of beta catenin Int'l","volume":"7","author":"Ning B","year":"2014","journal-title":"J Clin Exp Pathol"},{"key":"e_1_2_7_31_1","doi-asserted-by":"crossref","first-page":"2019","DOI":"10.1242\/jcs.112.12.2019","article-title":"Teneurin 1, a vertebrate homologue of the Drosophila pair\u2010rule gene Ten\u2010m, is a neuronal protein with a novel type of heparin binding domain","volume":"112","author":"Minet AD","year":"1999","journal-title":"J Cell Sci"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygcen.2006.01.012"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molbrainres.2004.10.019"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/jor.22616"}],"container-title":["Journal of Orthopaedic Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjor.24148","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jor.24148","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jor.24148","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jor.24148","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,8]],"date-time":"2023-09-08T11:51:52Z","timestamp":1694173912000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jor.24148"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10,25]]},"references-count":33,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,1]]}},"alternative-id":["10.1002\/jor.24148"],"URL":"https:\/\/doi.org\/10.1002\/jor.24148","archive":["Portico"],"relation":{},"ISSN":["0736-0266","1554-527X"],"issn-type":[{"value":"0736-0266","type":"print"},{"value":"1554-527X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,10,25]]},"assertion":[{"value":"2018-05-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-09-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-10-25","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}