Significance of kidney biopsy in autosomal dominant tubulointerstitial kidney disease-UMOD: is kidney biopsy truly nonspecific?

Autor: Tamehito Onoe, Satoshi Hara, Kazunori Yamada, Takeshi Zoshima, Ichiro Mizushima, Kiyoaki Ito, Takayasu Mori, Shoichiro Daimon, Hiroaki Muramoto, Maki Shimizu, Akira Iguchi, Akihiro Kuma, Yoshifumi Ubara, Michihiro Mitobe, Hiroaki Tsuruta, Nao Kishimoto, Junko Imura, Tadashi Konoshita, Mitsuhiro Kawano

Publikováno v: BMC Nephrology, Vol 22, Iss 1, Pp 1-11 (2021)

Abstract Background Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare hereditary disease caused by a variety of genetic mutations. Carriers of a mutation in the responsible genes are at risk of reaching end-stage kidney disease t

Externí odkaz: https://doaj.org/article/7344569a1e874d1799356d62db07d28f

A Genetic Variant in the Distal Enhancer Region of the Human Renin Gene Affects Renin Expression.

Autor: Yasukazu Makino, Tadashi Konoshita, Atsuhito Omori, Nobuhiro Maegawa, Takahiro Nakaya, Mai Ichikawa, Katsushi Yamamoto, Shigeyuki Wakahara, Tamotsu Ishizuka, Tamehito Onoe, Hiroyuki Nakamura, Genomic Disease Outcome Consortium (G-DOC) Study Investigators

Publikováno v: PLoS ONE, Vol 10, Iss 9, p e0137469 (2015)

The high heritability of plasma renin activity was confirmed in recent investigations. A variation located near the strong enhancer of the human renin gene (REN), C-5312T, has been shown to have different transcription activity levels depending on it

Externí odkaz: https://doaj.org/article/f26eaa53f7054802b95353c7b1eecf90

Additional file 1 of Significance of kidney biopsy in autosomal dominant tubulointerstitial kidney disease-UMOD: is kidney biopsy truly nonspecific?

Autor: Tamehito Onoe, Hara, Satoshi, Yamada, Kazunori, Zoshima, Takeshi, Mizushima, Ichiro, Kiyoaki Ito, Mori, Takayasu, Daimon, Shoichiro, Muramoto, Hiroaki, Shimizu, Maki, Iguchi, Akira, Kuma, Akihiro, Ubara, Yoshifumi, Mitobe, Michihiro, Tsuruta, Hiroaki, Kishimoto, Nao, Imura, Junko, Konoshita, Tadashi, Kawano, Mitsuhiro

Additional file 1 : Supplemental table 1. pathogenicity prediction of each UMOD variant

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c1517a82c073d785d7b4950cceb1a0e

Lat(Y136F) knock-in mouse model for human IgG4-related disease

Autor: Yasushi Kakuchi, Tamehito Onoe, Yasunori Suzuki, Bernard Malissen, Kiyoaki Ito, Shozo Izui, Masakazu Yamagishi, Masahiko Zuka, Kazunori Yamada, Mitsuhiro Kawano, Marie Malissen, Keishi Mizuguchi

Publikováno v: PLoS ONE
PLoS ONE, Public Library of Science, 2018, 13 (6), pp.e0198417. ⟨10.1371/journal.pone.0198417⟩
PLoS ONE, 2018, 13 (6), pp.e0198417. ⟨10.1371/journal.pone.0198417⟩
PLoS ONE, Vol 13, Iss 6, p e0198417 (2018)

International audience; Background The adaptor protein Linker for activation of T cell (LAT) is a key signaling hub used by the T cell antigen receptor. Mutant mice expressing loss-of-function mutations affecting LAT and including a mutation in which

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0b24db40021effc28d943db17bed587
https://hal.archives-ouvertes.fr/hal-02117995

Situs inversus and cystic kidney disease: Two adult patients with this Heterogeneous syndrome

Autor: Masahiro Kuroda, Ichiro Mizushima, Kenshi Hayashi, Yasushi Kakuchi, Satoshi Kagitani, Mitsuhiro Kawano, Tamehito Onoe, Kazunori Yamada, Tadashi Konoshita, Ryoko Hamano, Hideki Nomura, Masakazu Yamagishi, Koichi Tsuneyama

Publikováno v: The American Journal of Case Reports

Summary Background: Situs inversus is a rare complication of cystic kidney diseases. Only three genes, INVS (NPHP2), NPHP3 and PKD2 have been proved to be responsible for some cases, while the responsible genes in many others are still unknown. Case

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a0232f68d85d543b332c23c384448db
https://doi.org/10.12659/ajcr.883751