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Search: authors:"Kazuki Kijima"

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Molecular diagnosis and clinical onset of Charcot–Marie–Tooth disease in Japan

, Chikahiko Numakura, Kazuki Kijima, Makiko Hayashi, Taeko Hashimoto & Kiyoshi Hayasaka AuthorsSearch for Akiko Abe in:Nature Research journals • PubMed • Google ScholarSearch for Chikahiko Numakura in:Nature ... Research journals • PubMed • Google ScholarSearch for Kazuki Kijima in:Nature Research journals • PubMed • Google ScholarSearch for Makiko Hayashi in:Nature Research journals • PubMed • Google ScholarSearch

Cardiac Ion Channel Gene Mutations in Sudden Infant Death Syndrome

Sudden infant death syndrome (SIDS) is multifactorial and may result from the interaction of a number of environmental, genetic, and developmental factors. We studied three major genes causing long QT syndrome in 42 Japanese SIDS victims and found five mutations, KCNQ1-K598R, KCNH2-T895M, SCN5A-F532C, SCN5A-G1084S, and SCN5A-F1705S, in four cases; one case had both KCNH2-T895M...

Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy

Heat shock protein 27 (HSP27) belongs to a family of small heat shock proteins that play significant roles in the cellular stress response and are also involved in the control of protein-protein interactions as chaperons. Mutation in HSP27 has been identified as the cause of axonal Charcot-Marie-Tooth disease (CMT) and distal hereditary motor neuropathy (HMN). Heat shock protein...

Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease

Periaxin (PRX) plays a significant role in the myelination of the peripheral nerve. To date, seven nonsense or frameshift PRX mutations have been reported in six pedigrees with Dejerine-Sottas neuropathy or severe Charcot-Marie-Tooth neuropathy (CMT). We detected a PRX mutation in three patients in the screening of 66 Japanese demyelinating CMT patients who were negative for the...