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rdf:type |
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lifeskim:mentions |
umls-concept:C0011053,
umls-concept:C0017262,
umls-concept:C0026882,
umls-concept:C0032824,
umls-concept:C0205314,
umls-concept:C0445254,
umls-concept:C0679622,
umls-concept:C1171362,
umls-concept:C1416616,
umls-concept:C1515670,
umls-concept:C1518683,
umls-concept:C1527180
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pubmed:issue |
3
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pubmed:dateCreated |
1999-3-3
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pubmed:databankReference |
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AF105202,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AF105203,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AF105204,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AF105205,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AF105206,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AF105207,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AF105208,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AF105209,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AF105210,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AF105211,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AF105212,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AF105213,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AF105214,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AF105215,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AF105216
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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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
0092-8674
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
5
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pubmed:volume |
96
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
437-46
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:10025409-Amino Acid Sequence,
pubmed-meshheading:10025409-Animals,
pubmed-meshheading:10025409-Chromosome Mapping,
pubmed-meshheading:10025409-Cloning, Molecular,
pubmed-meshheading:10025409-DNA, Complementary,
pubmed-meshheading:10025409-Ear, Inner,
pubmed-meshheading:10025409-Female,
pubmed-meshheading:10025409-Gene Expression Regulation,
pubmed-meshheading:10025409-Genes, Dominant,
pubmed-meshheading:10025409-Hair Cells, Auditory, Outer,
pubmed-meshheading:10025409-Hearing Loss, Sensorineural,
pubmed-meshheading:10025409-Humans,
pubmed-meshheading:10025409-KCNQ Potassium Channels,
pubmed-meshheading:10025409-Mice,
pubmed-meshheading:10025409-Molecular Sequence Data,
pubmed-meshheading:10025409-Mutation,
pubmed-meshheading:10025409-Oocytes,
pubmed-meshheading:10025409-Pedigree,
pubmed-meshheading:10025409-Potassium Channels,
pubmed-meshheading:10025409-Potassium Channels, Voltage-Gated,
pubmed-meshheading:10025409-Xenopus laevis
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pubmed:year |
1999
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pubmed:articleTitle |
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.
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pubmed:affiliation |
Zentrum für Molekulare Neurobiologie Hamburg, Universität Hamburg, Germany.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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