Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Yuriko Nezu"'
Autor:
Tsutomu Yoshikawa, Kenji Yorita, Hiroaki Kataoka, Yuriko Nezu, Naoki Takeda, Shinri Hoshiko, Akira Sawaguchi, Makiko Kawaguchi, Tsuyoshi Fukushima, Takashi Baba
Publikováno v:
The American Journal of Pathology. 179:1815-1826
Hepatocyte growth factor activator inhibitor type 1 (HAI-1), encoded by the serine protease inhibitor Kunitz type 1 ( SPINT1 ) gene, is a membrane-bound serine protease inhibitor expressed in epithelial tissues. Mutant mouse models revealed that HAI-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba4a9e676603eda9ce4e7e7f172f5068
https://doi.org/10.1016/j.ajpath.2011.06.038
https://doi.org/10.1016/j.ajpath.2011.06.038
Autor:
Chika Washizu, Noboru Sasagawa, Shoichi Ishiura, Nobuyuki Nukina, Yuriko Nezu, Hayato Onishi, Yoshihiro Kino, Yoko Oma
Publikováno v:
Nucleic Acids Research
The expression and function of the skeletal muscle chloride channel CLCN1/ClC-1 is regulated by alternative splicing. Inclusion of the CLCN1 exon 7A is aberrantly elevated in myotonic dystrophy (DM), a genetic disorder caused by the expansion of a CT
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24eb3c025289432c65e2e25425dc9ddf
https://doi.org/10.1093/nar/gkp681
https://doi.org/10.1093/nar/gkp681
Publikováno v:
Neuromuscular Disorders. 17:306-312
Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder that causes muscle wasting, myotonia, cardiac conduction abnormalities, and other multi-systemic symptoms. Current evidence supports a pathogenic mechanism involving aberrantly expande
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2907dbc2ccd0f5e71c1e6359f3bae1a6
https://doi.org/10.1016/j.nmd.2007.01.002
https://doi.org/10.1016/j.nmd.2007.01.002