| pubmed-article:19500159 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:19500159 | lifeskim:mentions | umls-concept:C0013336 | lld:lifeskim |
| pubmed-article:19500159 | lifeskim:mentions | umls-concept:C0014544 | lld:lifeskim |
| pubmed-article:19500159 | lifeskim:mentions | umls-concept:C0034693 | lld:lifeskim |
| pubmed-article:19500159 | lifeskim:mentions | umls-concept:C0596131 | lld:lifeskim |
| pubmed-article:19500159 | lifeskim:mentions | umls-concept:C1421525 | lld:lifeskim |
| pubmed-article:19500159 | lifeskim:mentions | umls-concept:C0678939 | lld:lifeskim |
| pubmed-article:19500159 | pubmed:issue | 7 | lld:pubmed |
| pubmed-article:19500159 | pubmed:dateCreated | 2009-10-5 | lld:pubmed |
| pubmed-article:19500159 | pubmed:abstractText | The lde/lde rat is characterized by dwarfism, postnatal lethality, male hypogonadism, a high incidence of epilepsy and many vacuoles in the hippocampus and amygdala. We used a candidate approach to identify the gene responsible for the lde phenotype and assessed the susceptibility of lde/lde rats for audiogenic seizures. Following backcross breeding of lethal dwarfism with epilepsy (LDE) to Brown Norway rats, the lde/lde rats with an altered genetic background showed all pleiotropic phenotypes. The lde locus was mapped to a 1.5-Mbp region on rat chromosome 19 that included the latter half of the Wwox gene. Sequencing of the full-length Wwox transcript identified a 13-bp deletion in exon 9 in lde/lde rats. This mutation causes a frame shift, resulting in aberrant amino acid sequences at the C-terminal. Western blotting showed that both the full-length products of the Wwox gene and its isoform were present in normal testes and hippocampi, whereas both products were undetectable in the testes and hippocampi of lde/lde rats. Sound stimulation induced epileptic seizures in 95% of lde/lde rats, with starting as wild running (WR), sometimes progressing to tonic-clonic convulsions. Electroencephalogram (EEG) analysis showed interictal spikes, fast waves during WR and burst of spikes during clonic phases. The Wwox protein is expressed in the central nervous system (CNS), indicating that abnormal neuronal excitability in lde/lde rats may be because of a lack of Wwox function. The lde/lde rat is not only useful for understanding the multiple functions of Wwox but is also a unique model for studying the physiological function of Wwox in CNS. | lld:pubmed |
| pubmed-article:19500159 | pubmed:language | eng | lld:pubmed |
| pubmed-article:19500159 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19500159 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:19500159 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19500159 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19500159 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:19500159 | pubmed:month | Oct | lld:pubmed |
| pubmed-article:19500159 | pubmed:issn | 1601-183X | lld:pubmed |
| pubmed-article:19500159 | pubmed:author | pubmed-author:SuzukiKK | lld:pubmed |
| pubmed-article:19500159 | pubmed:author | pubmed-author:SaitoKK | lld:pubmed |
| pubmed-article:19500159 | pubmed:author | pubmed-author:SuzukiHH | lld:pubmed |
| pubmed-article:19500159 | pubmed:author | pubmed-author:KatayamaKK | lld:pubmed |
| pubmed-article:19500159 | pubmed:author | pubmed-author:TakenakaMM | lld:pubmed |
| pubmed-article:19500159 | pubmed:author | pubmed-author:AmakasuKK | lld:pubmed |
| pubmed-article:19500159 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:19500159 | pubmed:volume | 8 | lld:pubmed |
| pubmed-article:19500159 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:19500159 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:19500159 | pubmed:pagination | 650-60 | lld:pubmed |
| pubmed-article:19500159 | pubmed:meshHeading | pubmed-meshheading:19500159... | lld:pubmed |
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| pubmed-article:19500159 | pubmed:meshHeading | pubmed-meshheading:19500159... | lld:pubmed |
| pubmed-article:19500159 | pubmed:meshHeading | pubmed-meshheading:19500159... | lld:pubmed |
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| pubmed-article:19500159 | pubmed:meshHeading | pubmed-meshheading:19500159... | lld:pubmed |
| pubmed-article:19500159 | pubmed:year | 2009 | lld:pubmed |
| pubmed-article:19500159 | pubmed:articleTitle | A spontaneous mutation of the Wwox gene and audiogenic seizures in rats with lethal dwarfism and epilepsy. | lld:pubmed |
| pubmed-article:19500159 | pubmed:affiliation | Laboratory of Veterinary Physiology, Nippon Veterinary and Life Science University, 1-7-1 Kyonan-cho, Musashino-shi, Tokyo 180-8602, Japan. hiroetsu@nvlu.ac.jp | lld:pubmed |
| pubmed-article:19500159 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:19500159 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:292041 | entrezgene:pubmed | pubmed-article:19500159 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:19500159 | lld:entrezgene |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:19500159 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:19500159 | lld:pubmed |
