http://purl.uniprot.org/citations/10025409 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/10025409 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/10025409 | http://www.w3.org/2000/01/rdf-schema#comment | "Potassium channels regulate electrical signaling and the ionic composition of biological fluids. Mutations in the three known genes of the KCNQ branch of the K+ channel gene family underlie inherited cardiac arrhythmias (in some cases associated with deafness) and neonatal epilepsy. We have now cloned KCNQ4, a novel member of this branch. It maps to the DFNA2 locus for a form of nonsyndromic dominant deafness. In the cochlea, it is expressed in sensory outer hair cells. A mutation in this gene in a DFNA2 pedigree changes a residue in the KCNQ4 pore region. It abolishes the potassium currents of wild-type KCNQ4 on which it exerts a strong dominant-negative effect. Whereas mutations in KCNQ1 cause deafness by affecting endolymph secretion, the mechanism leading to KCNQ4-related hearing loss is intrinsic to outer hair cells."xsd:string |
http://purl.uniprot.org/citations/10025409 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0092-8674(00)80556-5"xsd:string |
http://purl.uniprot.org/citations/10025409 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0092-8674(00)80556-5"xsd:string |
http://purl.uniprot.org/citations/10025409 | http://purl.uniprot.org/core/author | "Petit C."xsd:string |
http://purl.uniprot.org/citations/10025409 | http://purl.uniprot.org/core/author | "Petit C."xsd:string |
http://purl.uniprot.org/citations/10025409 | http://purl.uniprot.org/core/author | "Friedrich T."xsd:string |
http://purl.uniprot.org/citations/10025409 | http://purl.uniprot.org/core/author | "Friedrich T."xsd:string |
http://purl.uniprot.org/citations/10025409 | http://purl.uniprot.org/core/author | "Marlin S."xsd:string |
http://purl.uniprot.org/citations/10025409 | http://purl.uniprot.org/core/author | "Marlin S."xsd:string |
http://purl.uniprot.org/citations/10025409 | http://purl.uniprot.org/core/author | "Kubisch C."xsd:string |
http://purl.uniprot.org/citations/10025409 | http://purl.uniprot.org/core/author | "Kubisch C."xsd:string |
http://purl.uniprot.org/citations/10025409 | http://purl.uniprot.org/core/author | "Jentsch T.J."xsd:string |
http://purl.uniprot.org/citations/10025409 | http://purl.uniprot.org/core/author | "Jentsch T.J."xsd:string |
http://purl.uniprot.org/citations/10025409 | http://purl.uniprot.org/core/author | "El-Amraoui A."xsd:string |
http://purl.uniprot.org/citations/10025409 | http://purl.uniprot.org/core/author | "El-Amraoui A."xsd:string |
http://purl.uniprot.org/citations/10025409 | http://purl.uniprot.org/core/author | "Schroeder B.C."xsd:string |
http://purl.uniprot.org/citations/10025409 | http://purl.uniprot.org/core/author | "Schroeder B.C."xsd:string |
http://purl.uniprot.org/citations/10025409 | http://purl.uniprot.org/core/author | "Luetjohann B."xsd:string |
http://purl.uniprot.org/citations/10025409 | http://purl.uniprot.org/core/author | "Luetjohann B."xsd:string |
http://purl.uniprot.org/citations/10025409 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
http://purl.uniprot.org/citations/10025409 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
http://purl.uniprot.org/citations/10025409 | http://purl.uniprot.org/core/name | "Cell"xsd:string |
http://purl.uniprot.org/citations/10025409 | http://purl.uniprot.org/core/name | "Cell"xsd:string |