| http://purl.uniprot.org/citations/15108285 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15108285 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15108285 | http://www.w3.org/2000/01/rdf-schema#comment | "Mulibrey nanism is an autosomal recessive prenatal-onset growth disorder of unknown pathogenesis. The main clinical features are pre- and postnatal growth failure, characteristic dysmorphic craniofacial features, heart disease, and hepatomegaly. Five truncating mutations in the TRIM37 gene have previously been reported in Mulibrey nanism patients. The TRIM37 protein encodes a novel protein of unknown function. It contains a tripartite motif (TRIM, also denoted the RING-B-box-Coiled-coil or RBCC domain) and a TRAF (tumor necrosis factor-receptor associated factor) domain. TRIM37 localizes to peroxisomes classifying Mulibrey nanism as a peroxisomal disorder. Here we have characterized the genomic structure of the TRIM37 gene, which has 24 exons spanning approximately 109 kb of genomic DNA. Further, we report six novel disease-associated mutations, five of which predict a truncated protein: c.745C>T (p.Gln249X), c.1411C>T (p.Arg471X), c.2056C>T (p.Arg686X), and an 8.6 kb genomic deletion (c.1314+507_1668-207del resulting in p.Arg439fsX4). The sixth mutation (c.965G>T) is the first missense mutation (p.Gly322Val) associated with Mulibrey nanism. It affects the TRAF domain of TRIM37 and results in altered subcellular localization of the mutant TRIM37 protein, further suggesting that it is pathogenic."xsd:string |
| http://purl.uniprot.org/citations/15108285 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.9233"xsd:string |
| http://purl.uniprot.org/citations/15108285 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.9233"xsd:string |
| http://purl.uniprot.org/citations/15108285 | http://purl.uniprot.org/core/author | "Lehesjoki A.E."xsd:string |
| http://purl.uniprot.org/citations/15108285 | http://purl.uniprot.org/core/author | "Lehesjoki A.E."xsd:string |
| http://purl.uniprot.org/citations/15108285 | http://purl.uniprot.org/core/author | "Eyaid W."xsd:string |
| http://purl.uniprot.org/citations/15108285 | http://purl.uniprot.org/core/author | "Eyaid W."xsd:string |
| http://purl.uniprot.org/citations/15108285 | http://purl.uniprot.org/core/author | "McFadden D."xsd:string |
| http://purl.uniprot.org/citations/15108285 | http://purl.uniprot.org/core/author | "McFadden D."xsd:string |
| http://purl.uniprot.org/citations/15108285 | http://purl.uniprot.org/core/author | "Sorge G."xsd:string |
| http://purl.uniprot.org/citations/15108285 | http://purl.uniprot.org/core/author | "Sorge G."xsd:string |
| http://purl.uniprot.org/citations/15108285 | http://purl.uniprot.org/core/author | "Avela K."xsd:string |
| http://purl.uniprot.org/citations/15108285 | http://purl.uniprot.org/core/author | "Avela K."xsd:string |
| http://purl.uniprot.org/citations/15108285 | http://purl.uniprot.org/core/author | "Lambert J.A."xsd:string |
| http://purl.uniprot.org/citations/15108285 | http://purl.uniprot.org/core/author | "Lambert J.A."xsd:string |
| http://purl.uniprot.org/citations/15108285 | http://purl.uniprot.org/core/author | "Lipsanen-Nyman M."xsd:string |
| http://purl.uniprot.org/citations/15108285 | http://purl.uniprot.org/core/author | "Lipsanen-Nyman M."xsd:string |
| http://purl.uniprot.org/citations/15108285 | http://purl.uniprot.org/core/author | "Haemaelaeinen R.H."xsd:string |
| http://purl.uniprot.org/citations/15108285 | http://purl.uniprot.org/core/author | "Haemaelaeinen R.H."xsd:string |
| http://purl.uniprot.org/citations/15108285 | http://purl.uniprot.org/core/author | "Gronau J."xsd:string |
| http://purl.uniprot.org/citations/15108285 | http://purl.uniprot.org/core/author | "Gronau J."xsd:string |
| http://purl.uniprot.org/citations/15108285 | http://purl.uniprot.org/core/author | "Ignaszewski A.P."xsd:string |
| http://purl.uniprot.org/citations/15108285 | http://purl.uniprot.org/core/author | "Ignaszewski A.P."xsd:string |