| http://purl.uniprot.org/citations/11562478 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11562478 | http://www.w3.org/2000/01/rdf-schema#comment | "Secreted noggin protein regulates bone morphogenetic protein activity during development. In mice, a complete loss of noggin protein leads to multiple malformations including joint fusion, whereas mice heterozygous for Nog loss-of-function mutations are normal. In humans, heterozygous NOG missense mutations have been found in patients with two autosomal dominant disorders of joint development, multiple synostosis syndrome (SYNS1) and a milder disorder proximal symphalangism (SYM1). This study investigated the effect of one SYNS1 and two SYM1 disease-causing missense mutations on the structure and function of noggin. The SYNS1 mutation abolished, and the SYM1 mutations reduced, the secretion of functional noggin dimers in transiently transfected COS-7 cells. Coexpression of mutant noggin with wild-type noggin, to resemble the heterozygous state, did not interfere with wild-type noggin secretion. These data indicate that the human disease-causing mutations are hypomorphic alleles that reduce secretion of functional dimeric noggin. Therefore, we conclude that noggin has both species-specific and joint-specific dosage-dependent roles during joint formation. Surprisingly, in contrast to the COS-7 cell studies, the SYNS1 mutant was able to form dimers in Xenopus laevis oocytes. This finding indicates that there also exist species-specific differences in the ability to process mutant noggin polypeptides."xsd:string |
| http://purl.uniprot.org/citations/11562478 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.201367598"xsd:string |
| http://purl.uniprot.org/citations/11562478 | http://purl.uniprot.org/core/author | "Harland R.M."xsd:string |
| http://purl.uniprot.org/citations/11562478 | http://purl.uniprot.org/core/author | "Economides A.N."xsd:string |
| http://purl.uniprot.org/citations/11562478 | http://purl.uniprot.org/core/author | "Warman M.L."xsd:string |
| http://purl.uniprot.org/citations/11562478 | http://purl.uniprot.org/core/author | "Romero M.F."xsd:string |
| http://purl.uniprot.org/citations/11562478 | http://purl.uniprot.org/core/author | "Eimon P.M."xsd:string |
| http://purl.uniprot.org/citations/11562478 | http://purl.uniprot.org/core/author | "Marcelino J."xsd:string |
| http://purl.uniprot.org/citations/11562478 | http://purl.uniprot.org/core/author | "Ballock R.T."xsd:string |
| http://purl.uniprot.org/citations/11562478 | http://purl.uniprot.org/core/author | "Sciortino C.M."xsd:string |
| http://purl.uniprot.org/citations/11562478 | http://purl.uniprot.org/core/author | "Ulatowski L.M."xsd:string |
| http://purl.uniprot.org/citations/11562478 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11562478 | http://purl.uniprot.org/core/name | "Proc Natl Acad Sci U S A"xsd:string |
| http://purl.uniprot.org/citations/11562478 | http://purl.uniprot.org/core/pages | "11353-11358"xsd:string |
| http://purl.uniprot.org/citations/11562478 | http://purl.uniprot.org/core/title | "Human disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein binding."xsd:string |
| http://purl.uniprot.org/citations/11562478 | http://purl.uniprot.org/core/volume | "98"xsd:string |
| http://purl.uniprot.org/citations/11562478 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/11562478 |
| http://purl.uniprot.org/citations/11562478 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/11562478 |
| http://purl.uniprot.org/uniprot/Q13253#attribution-127EF7D911B5C20977244DC7E7E052D4 | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/11562478 |
| http://purl.uniprot.org/uniprot/#_Q13253-mappedCitation-11562478 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/11562478 |
| http://purl.uniprot.org/uniprot/Q13253 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/11562478 |