Search Results - "Niihori Tetsuya"

LZTR1 facilitates polyubiquitination and degradation of RAS-GTPases by Abe, Taiki, Umeki, Ikumi, Kanno, Shin-ichiro, Inoue, Shin-ichi, Niihori, Tetsuya, Aoki, Yoko

“…Leucine zipper-like transcriptional regulator 1 (LZTR1) encodes a member of the BTB-Kelch superfamily, which interacts with the Cullin3 (CUL3)-based E3…”
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Recent advances in RASopathies by Aoki, Yoko, Niihori, Tetsuya, Inoue, Shin-ichi, Matsubara, Yoichi

“…RASopathies or RAS/mitogen-activated protein kinase (MAPK) syndromes are a group of phenotypically overlapping syndromes caused by germline mutations that…”
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A somatic activating KRAS variant identified in an affected lesion of a patient with Gorham–Stout disease by Nozawa, Akifumi, Ozeki, Michio, Niihori, Tetsuya, Suzui, Natsuko, Miyazaki, Tatsuhiko, Aoki, Yoko

“…Gorham–Stout disease (GSD), a rare disorder of unknown etiology, is characterized by massive osteolysis that is associated with proliferation and dilation of…”
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A genome-wide association study identifies RNF213 as the first Moyamoya disease gene by Kamada, Fumiaki, Aoki, Yoko, Narisawa, Ayumi, Abe, Yu, Komatsuzaki, Shoko, Kikuchi, Atsuo, Kanno, Junko, Niihori, Tetsuya, Ono, Masao, Ishii, Naoto, Owada, Yuji, Fujimura, Miki, Mashimo, Yoichi, Suzuki, Yoichi, Hata, Akira, Tsuchiya, Shigeru, Tominaga, Teiji, Matsubara, Yoichi, Kure, Shigeo

“…Moyamoya disease (MMD) shows progressive cerebral angiopathy characterized by bilateral internal carotid artery stenosis and abnormal collateral vessels…”
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Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome by Aoki, Yoko, Niihori, Tetsuya, Banjo, Toshihiro, Okamoto, Nobuhiko, Mizuno, Seiji, Kurosawa, Kenji, Ogata, Tsutomu, Takada, Fumio, Yano, Michihiro, Ando, Toru, Hoshika, Tadataka, Barnett, Christopher, Ohashi, Hirofumi, Kawame, Hiroshi, Hasegawa, Tomonobu, Okutani, Takahiro, Nagashima, Tatsuo, Hasegawa, Satoshi, Funayama, Ryo, Nagashima, Takeshi, Nakayama, Keiko, Inoue, Shin-ichi, Watanabe, Yusuke, Ogura, Toshihiko, Matsubara, Yoichi

“…RAS GTPases mediate a wide variety of cellular functions, including cell proliferation, survival, and differentiation. Recent studies have revealed that…”
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Human genetic variation database, a reference database of genetic variations in the Japanese population by Higasa, Koichiro, Miyake, Noriko, Yoshimura, Jun, Okamura, Kohji, Niihori, Tetsuya, Saitsu, Hirotomo, Doi, Koichiro, Shimizu, Masakazu, Nakabayashi, Kazuhiko, Aoki, Yoko, Tsurusaki, Yoshinori, Morishita, Shinichi, Kawaguchi, Takahisa, Migita, Osuke, Nakayama, Keiko, Nakashima, Mitsuko, Mitsui, Jun, Narahara, Maiko, Hayashi, Keiko, Funayama, Ryo, Yamaguchi, Daisuke, Ishiura, Hiroyuki, Ko, Wen-Ya, Hata, Kenichiro, Nagashima, Takeshi, Yamada, Ryo, Matsubara, Yoichi, Umezawa, Akihiro, Tsuji, Shoji, Matsumoto, Naomichi, Matsuda, Fumihiko

“…Whole-genome and -exome resequencing using next-generation sequencers is a powerful approach for identifying genomic variations that are associated with…”
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The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype–phenotype relationship and a hotspot on the inner DysF domain by Izumi, Rumiko, Takahashi, Toshiaki, Suzuki, Naoki, Niihori, Tetsuya, Ono, Hiroya, Nakamura, Naoko, Katada, Shinichi, Kato, Masaaki, Warita, Hitoshi, Tateyama, Maki, Aoki, Yoko, Aoki, Masashi

“…Dysferlinopathy is a group of autosomal recessive muscular dystrophies caused by variants in the dysferlin gene (DYSF), with variable proximal and distal…”
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Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis by Nishiyama, Ayumi, Niihori, Tetsuya, Warita, Hitoshi, Izumi, Rumiko, Akiyama, Tetsuya, Kato, Masaaki, Suzuki, Naoki, Aoki, Yoko, Aoki, Masashi

“…Abstract Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disease characterized by loss of motor neurons. We have recently identified…”
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Detection of NRAS mutation in cell-free DNA biological fluids from patients with kaposiform lymphangiomatosis by Ozeki, Michio, Aoki, Yoko, Nozawa, Akifumi, Yasue, Shiho, Endo, Saori, Hori, Yumiko, Matsuoka, Kentaro, Niihori, Tetsuya, Funayama, Ryo, Shirota, Matsuyuki, Nakayama, Keiko, Fukao, Toshiyuki

“…Kaposiform lymphangiomatosis (KLA) has recently been distinguished as a novel subtype of generalized lymphatic anomaly (GLA) with foci of spindle endothelial…”
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LZTR1 deficiency exerts high metastatic potential by enhancing sensitivity to EMT induction and controlling KLHL12-mediated collagen secretion by Abe, Taiki, Kanno, Shin-ichiro, Niihori, Tetsuya, Terao, Miho, Takada, Shuji, Aoki, Yoko

“…Leucine zipper-like transcriptional regulator 1 (LZTR1), a substrate adaptor of Cullin 3 (CUL3)-based E3 ubiquitin ligase, regulates proteostasis of the RAS…”
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A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy by Inoue-Shibui, Aya, Niihori, Tetsuya, Kobayashi, Michio, Suzuki, Naoki, Izumi, Rumiko, Warita, Hitoshi, Hara, Kenju, Shirota, Matsuyuki, Funayama, Ryo, Nakayama, Keiko, Nishino, Ichizo, Aoki, Masashi, Aoki, Yoko

“…Heat shock protein family B member 8, encoded by HSPB8, is an essential component of the chaperone-assisted selective autophagy complex, which maintains muscle…”
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Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice by Wada, Yoichi, Kikuchi, Atsuo, Kaga, Akimune, Shimizu, Naoki, Ito, Junya, Onuma, Ryo, Fujishima, Fumiyoshi, Totsune, Eriko, Sato, Ryo, Niihori, Tetsuya, Shirota, Matsuyuki, Funayama, Ryo, Sato, Kota, Nakazawa, Toru, Nakayama, Keiko, Aoki, Yoko, Aiba, Setsuya, Nakagawa, Kiyotaka, Kure, Shigeo

“…Skin lesions, cataracts, and congenital anomalies have been frequently associated with inherited deficiencies in enzymes that synthesize cholesterol…”
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A de novo CHD3 variant in a child with intellectual disability, autism, joint laxity, and dysmorphisms by Mizukami, Miyako, Ishikawa, Aki, Miyazaki, Sachiko, Tsuzuki, Akiko, Saito, Sakae, Niihori, Tetsuya, Sakurai, Akihiro

“…Chromodomain helicase DNA-binding (CHD) proteins play important roles in developmental processes. CHD3, a member of the CHD family of proteins, was reported to…”
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Germline-Activating RRAS2 Mutations Cause Noonan Syndrome by Niihori, Tetsuya, Nagai, Koki, Fujita, Atsushi, Ohashi, Hirofumi, Okamoto, Nobuhiko, Okada, Satoshi, Harada, Atsuko, Kihara, Hirotaka, Arbogast, Thomas, Funayama, Ryo, Shirota, Matsuyuki, Nakayama, Keiko, Abe, Taiki, Inoue, Shin-ichi, Tsai, I-Chun, Matsumoto, Naomichi, Davis, Erica E., Katsanis, Nicholas, Aoki, Yoko

“…Noonan syndrome (NS) is characterized by distinctive craniofacial appearance, short stature, and congenital heart disease. Approximately 80% of individuals…”
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A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor by Aihara, Yu, Shirota, Matsuyuki, Kikuchi, Atsuo, Katata, Yu, Abe, Yu, Niihori, Tetsuya, Funayama, Ryo, Nakayama, Keiko, Aoki, Yoko, Kure, Shigeo

“…ANO3 encodes Anoctamin-3, also known as TMEM16C, a calcium-activated chloride channel. Heterozygous variants of ANO3 can cause dystonia 24, an adult-onset…”
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Germline mutations in HRAS proto-oncogene cause Costello syndrome by Aoki, Yoko, Niihori, Tetsuya, Kawame, Hiroshi, Kurosawa, Kenji, Ohashi, Hirofumi, Tanaka, Yukichi, Filocamo, Mirella, Kato, Kumi, Suzuki, Yoichi, Kure, Shigeo, Matsubara, Yoichi

“…Costello syndrome is a multiple congenital anomaly and mental retardation syndrome characterized by coarse face, loose skin, cardiomyopathy and predisposition…”
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Biallelic GALM pathogenic variants cause a novel type of galactosemia by Wada, Yoichi, Kikuchi, Atsuo, Arai-Ichinoi, Natsuko, Sakamoto, Osamu, Takezawa, Yusuke, Iwasawa, Shinya, Niihori, Tetsuya, Nyuzuki, Hiromi, Nakajima, Yoko, Ogawa, Erika, Ishige, Mika, Hirai, Hiroki, Sasai, Hideo, Fujiki, Ryoji, Shirota, Matsuyuki, Funayama, Ryo, Yamamoto, Masayuki, Ito, Tetsuya, Ohara, Osamu, Nakayama, Keiko, Aoki, Yoko, Koshiba, Seizo, Fukao, Toshiyuki, Kure, Shigeo

“…Purpose Galactosemia is caused by metabolic disturbances at various stages of galactose metabolism, including deficiencies in enzymes involved in the Leloir…”
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Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome by Shoji, Yasuko, Ida, Shinobu, Niihori, Tetsuya, Aoki, Yoko, Okamoto, Nobuhiko, Etani, Yuri, Kawai, Masanobu

“…Noonan syndrome (NS) is a heterogeneous disorder with multiple congenital malformations. Recent advances in molecular and genetic approaches have identified a…”
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Recurrent de novo MAPK8IP3 variants cause neurological phenotypes by Iwasawa, Shinya, Yanagi, Kumiko, Kikuchi, Atsuo, Kobayashi, Yasuko, Haginoya, Kazuhiro, Matsumoto, Hiroshi, Kurosawa, Kenji, Ochiai, Masayuki, Sakai, Yasunari, Fujita, Atsushi, Miyake, Noriko, Niihori, Tetsuya, Shirota, Matsuyuki, Funayama, Ryo, Nonoyama, Shigeaki, Ohga, Shouichi, Kawame, Hiroshi, Nakayama, Keiko, Aoki, Yoko, Matsumoto, Naomichi, Kaname, Tadashi, Matsubara, Yoichi, Shoji, Wataru, Kure, Shigeo

“…c‐Jun‐amino‐terminal kinase‐interacting protein 3 (JIP3), encoded by MAPK8IP3, is an adaptor protein of the kinesin‐1 complex and essential for axonal…”
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New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome by Inoue, Shin-Ichi, Moriya, Mitsuji, Watanabe, Yusuke, Miyagawa-Tomita, Sachiko, Niihori, Tetsuya, Oba, Daiju, Ono, Masao, Kure, Shigeo, Ogura, Toshihiko, Matsubara, Yoichi, Aoki, Yoko

“…Cardio-facio-cutaneous (CFC) syndrome is one of the 'RASopathies', a group of phenotypically overlapping syndromes caused by germline mutations that encode…”
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