| http://purl.uniprot.org/citations/24509478 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24509478 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24509478 | http://www.w3.org/2000/01/rdf-schema#comment | "Monogenic disorders result from defects in a single gene. According to Mendel's laws, these disorders are inherited in either a recessive or dominant fashion. Autosomal-recessive disorders require a disease-causing variant on both alleles, and according to our current understanding, their pathogenicities are not influenced by each other. Here we present an autosomal-recessive disorder, nephrotic syndrome type 2 (MIM 600995), in which the pathogenicity of an NPHS2 allele encoding p.Arg229Gln depends on the trans-associated mutation. We show that, contrary to expectations, this allele leads to a disease phenotype only when it is associated specifically with certain 3' NPHS2 mutations because of an altered heterodimerization and mislocalization of the encoded p.Arg229Gln podocin. The disease-associated 3' mutations exert a dominant-negative effect on p.Arg229Gln podocin but behave as recessive alleles when associated with wild-type podocin. Therefore, the transmission rates for couples carrying the disease-associated mutations and p.Arg229Gln may be substantially different from those expected in autosomal-recessive disorders."xsd:string |
| http://purl.uniprot.org/citations/24509478 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.2898"xsd:string |
| http://purl.uniprot.org/citations/24509478 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.2898"xsd:string |
| http://purl.uniprot.org/citations/24509478 | http://purl.uniprot.org/core/author | "Antignac C."xsd:string |
| http://purl.uniprot.org/citations/24509478 | http://purl.uniprot.org/core/author | "Antignac C."xsd:string |
| http://purl.uniprot.org/citations/24509478 | http://purl.uniprot.org/core/author | "Gribouval O."xsd:string |
| http://purl.uniprot.org/citations/24509478 | http://purl.uniprot.org/core/author | "Gribouval O."xsd:string |
| http://purl.uniprot.org/citations/24509478 | http://purl.uniprot.org/core/author | "Menyhard D.K."xsd:string |
| http://purl.uniprot.org/citations/24509478 | http://purl.uniprot.org/core/author | "Menyhard D.K."xsd:string |
| http://purl.uniprot.org/citations/24509478 | http://purl.uniprot.org/core/author | "Perczel A."xsd:string |
| http://purl.uniprot.org/citations/24509478 | http://purl.uniprot.org/core/author | "Perczel A."xsd:string |
| http://purl.uniprot.org/citations/24509478 | http://purl.uniprot.org/core/author | "Straner P."xsd:string |
| http://purl.uniprot.org/citations/24509478 | http://purl.uniprot.org/core/author | "Straner P."xsd:string |
| http://purl.uniprot.org/citations/24509478 | http://purl.uniprot.org/core/author | "Tory K."xsd:string |
| http://purl.uniprot.org/citations/24509478 | http://purl.uniprot.org/core/author | "Tory K."xsd:string |
| http://purl.uniprot.org/citations/24509478 | http://purl.uniprot.org/core/author | "Woerner S."xsd:string |
| http://purl.uniprot.org/citations/24509478 | http://purl.uniprot.org/core/author | "Woerner S."xsd:string |
| http://purl.uniprot.org/citations/24509478 | http://purl.uniprot.org/core/author | "Arrondel C."xsd:string |
| http://purl.uniprot.org/citations/24509478 | http://purl.uniprot.org/core/author | "Arrondel C."xsd:string |
| http://purl.uniprot.org/citations/24509478 | http://purl.uniprot.org/core/author | "Mollet G."xsd:string |
| http://purl.uniprot.org/citations/24509478 | http://purl.uniprot.org/core/author | "Mollet G."xsd:string |
| http://purl.uniprot.org/citations/24509478 | http://purl.uniprot.org/core/author | "Kerti A."xsd:string |
| http://purl.uniprot.org/citations/24509478 | http://purl.uniprot.org/core/author | "Kerti A."xsd:string |