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| pubmed-article:10025409 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:10025409 | pubmed:dateCreated | 1999-3-3 | lld:pubmed |
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| pubmed-article:10025409 | pubmed:abstractText | 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. | lld:pubmed |
| pubmed-article:10025409 | pubmed:language | eng | lld:pubmed |
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| pubmed-article:10025409 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:10025409 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:10025409 | pubmed:month | Feb | lld:pubmed |
| pubmed-article:10025409 | pubmed:issn | 0092-8674 | lld:pubmed |
| pubmed-article:10025409 | pubmed:author | pubmed-author:PetitCC | lld:pubmed |
| pubmed-article:10025409 | pubmed:author | pubmed-author:FriedrichTT | lld:pubmed |
| pubmed-article:10025409 | pubmed:author | pubmed-author:JentschT JTJ | lld:pubmed |
| pubmed-article:10025409 | pubmed:author | pubmed-author:KubischCC | lld:pubmed |
| pubmed-article:10025409 | pubmed:author | pubmed-author:MarlinSS | lld:pubmed |
| pubmed-article:10025409 | pubmed:author | pubmed-author:SchroederB... | lld:pubmed |
| pubmed-article:10025409 | pubmed:author | pubmed-author:El-AmraouiAA | lld:pubmed |
| pubmed-article:10025409 | pubmed:author | pubmed-author:LütjohannBB | lld:pubmed |
| pubmed-article:10025409 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:10025409 | pubmed:day | 5 | lld:pubmed |
| pubmed-article:10025409 | pubmed:volume | 96 | lld:pubmed |
| pubmed-article:10025409 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:10025409 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:10025409 | pubmed:pagination | 437-46 | lld:pubmed |
| pubmed-article:10025409 | pubmed:dateRevised | 2007-11-15 | lld:pubmed |
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| pubmed-article:10025409 | pubmed:year | 1999 | lld:pubmed |
| pubmed-article:10025409 | pubmed:articleTitle | KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. | lld:pubmed |
| pubmed-article:10025409 | pubmed:affiliation | Zentrum für Molekulare Neurobiologie Hamburg, Universität Hamburg, Germany. | lld:pubmed |
| pubmed-article:10025409 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:10025409 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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