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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
29
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pubmed:dateCreated |
2010-7-21
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pubmed:abstractText |
A significantly increased risk for dominant sensorineural deafness in patients who have Hirschsprung disease (HSCR) caused by endothelin receptor type B and SOX10 has been reported. Despite the fact that c-RET is the most frequent causal gene of HSCR, it has not been determined whether impairments of c-Ret and c-RET cause congenital deafness in mice and humans. Here, we show that impaired phosphorylation of c-Ret at tyrosine 1062 causes HSCR-linked syndromic congenital deafness in c-Ret knockin (KI) mice. The deafness involves neurodegeneration of spiral ganglion neurons (SGNs) with not only impaired phosphorylation of Akt and NF-kappaB but decreased expression of calbindin D28k in inner ears. The congenital deafness involving neurodegeneration of SGNs in c-Ret KI mice was rescued by introducing constitutively activated RET. Taken together with our results for three patients with congenital deafness with c-RET-mediated severe HSCR, our results indicate that c-Ret and c-RET are a deafness-related molecule in mice and humans.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/20616061-10320101,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20616061-10409632,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20616061-10601639,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/20616061-15350277,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20616061-1619443,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20616061-16518596,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20616061-16571762,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/20616061-17050626,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/20616061-9989837
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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 |
Jul
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pubmed:issn |
1091-6490
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pubmed:author |
pubmed-author:AsaiNaoyaN,
pubmed-author:HaraAkiraA,
pubmed-author:HoshinoTomofumiT,
pubmed-author:Ida-EtoMichiruM,
pubmed-author:JijiwaMayumiM,
pubmed-author:KatoMasashiM,
pubmed-author:NakashimaTsutomuT,
pubmed-author:OhgamiNobutakaN,
pubmed-author:SakashitaNaomiN,
pubmed-author:ShimadaAtsuyoshiA,
pubmed-author:ShimotakeTakashiT,
pubmed-author:SobueGenG,
pubmed-author:SoneMichihikoM,
pubmed-author:TabuchiKeijiK,
pubmed-author:TakahashiMasahideM,
pubmed-author:TsuzukiToyonoriT,
pubmed-author:YamamotoMasahikoM
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pubmed:issnType |
Electronic
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pubmed:day |
20
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pubmed:volume |
107
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
13051-6
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pubmed:dateRevised |
2011-7-20
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pubmed:meshHeading |
pubmed-meshheading:20616061-Amino Acid Substitution,
pubmed-meshheading:20616061-Animals,
pubmed-meshheading:20616061-Deafness,
pubmed-meshheading:20616061-Enzyme Activation,
pubmed-meshheading:20616061-Gene Knock-In Techniques,
pubmed-meshheading:20616061-Hearing Loss,
pubmed-meshheading:20616061-Hirschsprung Disease,
pubmed-meshheading:20616061-Immunohistochemistry,
pubmed-meshheading:20616061-Mice,
pubmed-meshheading:20616061-Mutation,
pubmed-meshheading:20616061-NF-kappa B,
pubmed-meshheading:20616061-Nerve Degeneration,
pubmed-meshheading:20616061-Neurons,
pubmed-meshheading:20616061-Phosphorylation,
pubmed-meshheading:20616061-Proto-Oncogene Proteins c-akt,
pubmed-meshheading:20616061-Proto-Oncogene Proteins c-ret,
pubmed-meshheading:20616061-Spiral Ganglion
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pubmed:year |
2010
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pubmed:articleTitle |
c-Ret-mediated hearing loss in mice with Hirschsprung disease.
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pubmed:affiliation |
Unit of Environmental Health Sciences, Department of Biomedical Sciences, College of Life and Health Sciences, Chubu University, 1200 Matsumoto, Kasugai, Aichi 487-8501, Japan.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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