| http://purl.uniprot.org/citations/28054444 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28054444 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28054444 | http://www.w3.org/2000/01/rdf-schema#comment | "A heterozygous nonsense variant was identified in dapper, antagonist of beta-catenin, 1 (DACT1) via whole-exome sequencing in family members with imperforate anus, structural renal abnormalities, genitourinary anomalies, and/or ear anomalies. The DACT1 c.1256G>A;p.Trp419* variant segregated appropriately in the family consistent with an autosomal dominant mode of inheritance. DACT1 is a member of the Wnt-signaling pathway, and mice homozygous for null alleles display multiple congenital anomalies including absent anus with blind-ending colon and genitourinary malformations. To investigate the DACT1 c.1256G>A variant, HEK293 cells were transfected with mutant DACT1 cDNA plasmid, and immunoblotting revealed stability of the DACT1 p.Trp419* protein. Overexpression of DACT1 c.1256G>A mRNA in Xenopus embryos revealed a specific gastrointestinal phenotype of enlargement of the proctodeum. Together, these findings suggest that the DACT1 c.1256G>A nonsense variant is causative of a specific genetic syndrome with features overlapping Townes-Brocks syndrome."xsd:string |
| http://purl.uniprot.org/citations/28054444 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.23171"xsd:string |
| http://purl.uniprot.org/citations/28054444 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.23171"xsd:string |
| http://purl.uniprot.org/citations/28054444 | http://purl.uniprot.org/core/author | "Houten S.M."xsd:string |
| http://purl.uniprot.org/citations/28054444 | http://purl.uniprot.org/core/author | "Houten S.M."xsd:string |
| http://purl.uniprot.org/citations/28054444 | http://purl.uniprot.org/core/author | "Webb B.D."xsd:string |
| http://purl.uniprot.org/citations/28054444 | http://purl.uniprot.org/core/author | "Webb B.D."xsd:string |
| http://purl.uniprot.org/citations/28054444 | http://purl.uniprot.org/core/author | "Schadt E.E."xsd:string |
| http://purl.uniprot.org/citations/28054444 | http://purl.uniprot.org/core/author | "Schadt E.E."xsd:string |
| http://purl.uniprot.org/citations/28054444 | http://purl.uniprot.org/core/author | "Wheeler P.G."xsd:string |
| http://purl.uniprot.org/citations/28054444 | http://purl.uniprot.org/core/author | "Wheeler P.G."xsd:string |
| http://purl.uniprot.org/citations/28054444 | http://purl.uniprot.org/core/author | "Horb M.E."xsd:string |
| http://purl.uniprot.org/citations/28054444 | http://purl.uniprot.org/core/author | "Horb M.E."xsd:string |
| http://purl.uniprot.org/citations/28054444 | http://purl.uniprot.org/core/author | "Metikala S."xsd:string |
| http://purl.uniprot.org/citations/28054444 | http://purl.uniprot.org/core/author | "Metikala S."xsd:string |
| http://purl.uniprot.org/citations/28054444 | http://purl.uniprot.org/core/author | "Sherpa M.D."xsd:string |
| http://purl.uniprot.org/citations/28054444 | http://purl.uniprot.org/core/author | "Sherpa M.D."xsd:string |
| http://purl.uniprot.org/citations/28054444 | http://purl.uniprot.org/core/date | "2017"xsd:gYear |
| http://purl.uniprot.org/citations/28054444 | http://purl.uniprot.org/core/date | "2017"xsd:gYear |
| http://purl.uniprot.org/citations/28054444 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/28054444 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/28054444 | http://purl.uniprot.org/core/pages | "373-377"xsd:string |
| http://purl.uniprot.org/citations/28054444 | http://purl.uniprot.org/core/pages | "373-377"xsd:string |