| pubmed-article:20616061 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:20616061 | lifeskim:mentions | umls-concept:C1384666 | lld:lifeskim |
| pubmed-article:20616061 | lifeskim:mentions | umls-concept:C0026809 | lld:lifeskim |
| pubmed-article:20616061 | lifeskim:mentions | umls-concept:C0019569 | lld:lifeskim |
| pubmed-article:20616061 | pubmed:issue | 29 | lld:pubmed |
| pubmed-article:20616061 | pubmed:dateCreated | 2010-7-21 | lld:pubmed |
| pubmed-article:20616061 | 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. | lld:pubmed |
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| pubmed-article:20616061 | pubmed:language | eng | lld:pubmed |
| pubmed-article:20616061 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20616061 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:20616061 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20616061 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20616061 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20616061 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:20616061 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:20616061 | pubmed:issn | 1091-6490 | lld:pubmed |
| pubmed-article:20616061 | pubmed:author | pubmed-author:HaraAkiraA | lld:pubmed |
| pubmed-article:20616061 | pubmed:author | pubmed-author:ShimotakeTaka... | lld:pubmed |
| pubmed-article:20616061 | pubmed:author | pubmed-author:TakahashiMasa... | lld:pubmed |
| pubmed-article:20616061 | pubmed:author | pubmed-author:YamamotoMasah... | lld:pubmed |
| pubmed-article:20616061 | pubmed:author | pubmed-author:SobueGenG | lld:pubmed |
| pubmed-article:20616061 | pubmed:author | pubmed-author:TabuchiKeijiK | lld:pubmed |
| pubmed-article:20616061 | pubmed:author | pubmed-author:AsaiNaoyaN | lld:pubmed |
| pubmed-article:20616061 | pubmed:author | pubmed-author:KatoMasashiM | lld:pubmed |
| pubmed-article:20616061 | pubmed:author | pubmed-author:OhgamiNobutak... | lld:pubmed |
| pubmed-article:20616061 | pubmed:author | pubmed-author:NakashimaTsut... | lld:pubmed |
| pubmed-article:20616061 | pubmed:author | pubmed-author:TsuzukiToyono... | lld:pubmed |
| pubmed-article:20616061 | pubmed:author | pubmed-author:SoneMichihiko... | lld:pubmed |
| pubmed-article:20616061 | pubmed:author | pubmed-author:ShimadaAtsuyo... | lld:pubmed |
| pubmed-article:20616061 | pubmed:author | pubmed-author:SakashitaNaom... | lld:pubmed |
| pubmed-article:20616061 | pubmed:author | pubmed-author:JijiwaMayumiM | lld:pubmed |
| pubmed-article:20616061 | pubmed:author | pubmed-author:HoshinoTomofu... | lld:pubmed |
| pubmed-article:20616061 | pubmed:author | pubmed-author:Ida-EtoMichir... | lld:pubmed |
| pubmed-article:20616061 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:20616061 | pubmed:day | 20 | lld:pubmed |
| pubmed-article:20616061 | pubmed:volume | 107 | lld:pubmed |
| pubmed-article:20616061 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:20616061 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:20616061 | pubmed:pagination | 13051-6 | lld:pubmed |
| pubmed-article:20616061 | pubmed:dateRevised | 2011-7-20 | lld:pubmed |
| pubmed-article:20616061 | pubmed:meshHeading | pubmed-meshheading:20616061... | lld:pubmed |
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| pubmed-article:20616061 | pubmed:meshHeading | pubmed-meshheading:20616061... | lld:pubmed |
| pubmed-article:20616061 | pubmed:meshHeading | pubmed-meshheading:20616061... | lld:pubmed |
| pubmed-article:20616061 | pubmed:meshHeading | pubmed-meshheading:20616061... | lld:pubmed |
| pubmed-article:20616061 | pubmed:meshHeading | pubmed-meshheading:20616061... | lld:pubmed |
| pubmed-article:20616061 | pubmed:meshHeading | pubmed-meshheading:20616061... | lld:pubmed |
| pubmed-article:20616061 | pubmed:meshHeading | pubmed-meshheading:20616061... | lld:pubmed |
| pubmed-article:20616061 | pubmed:meshHeading | pubmed-meshheading:20616061... | lld:pubmed |
| pubmed-article:20616061 | pubmed:year | 2010 | lld:pubmed |
| pubmed-article:20616061 | pubmed:articleTitle | c-Ret-mediated hearing loss in mice with Hirschsprung disease. | lld:pubmed |
| pubmed-article:20616061 | 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. | lld:pubmed |
| pubmed-article:20616061 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:20616061 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:19713 | entrezgene:pubmed | pubmed-article:20616061 | lld:entrezgene |
