Zobrazeno 1 - 10
of 375
pro vyhledávání: '"Yoshihiro Asano"'
Autor:
Namiki Nagata, Hiroshi Kurosaka, Kotaro Higashi, Masaya Yamaguchi, Sayuri Yamamoto, Toshihiro Inubushi, Miho Nagata, Yasuki Ishihara, Ayumi Yonei, Yohei Miyashita, Yoshihiro Asano, Norio Sakai, Yasushi Sakata, Shigetada Kawabata, Takashi Yamashiro
Publikováno v:
Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (2024)
Abstract Germline loss-of-function mutations in USP9X have been reported to cause a wide spectrum of congenital anomalies. Here, we report a Japanese girl with a novel heterozygous nonsense mutation in USP9X who exhibited intellectual disability with
Externí odkaz:
https://doaj.org/article/b9393595a854481382cc04985167cc60
Autor:
Rina Shimomura, Tomoe Yanagishita, Kumiko Ishiguro, Minobu Shichiji, Takatoshi Sato, Keiko Shimojima Yamamoto, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Keiko Ishigaki, Satoru Nagata, Yoshihiro Asano, Toshiyuki Yamamoto
Publikováno v:
Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (2024)
Abstract GJA1 is the causative gene for oculodentodigital dysplasia (ODDD). A novel de novo GJA1 variant, NM 000165:c263C > T [p.P88L], was identified in a mosaic state in a patient with short stature, seizures, delayed myelination, mild hearing loss
Externí odkaz:
https://doaj.org/article/6f129f5d0b704eb3a0575142992aadfe
Autor:
Hironori Yamamoto, Yohei Miyashita, Hitoshi Minamiguchi, Kazuyoshi Hosomichi, Shohei Yoshida, Hidetaka Kioka, Haruki Shinomiya, Haruno Nagata, Kenji Onoue, Masato Kawasaki, Yuki Kuramoto, Akihiro Nomura, Yuichiro Toma, Tetsuya Watanabe, Takahisa Yamada, Yasuki Ishihara, Miho Nagata, Hisakazu Kato, Hideyuki Hakui, Yoshihiko Saito, Yoshihiro Asano, Yasushi Sakata
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-15 (2023)
Abstract Cardiac sarcoidosis (CS) is the scarring of heart muscles by autoimmunity, leading to heart abnormalities and patients with sarcoidosis with cardiac involvements have poor prognoses. Due to the small number of patients, it is difficult to st
Externí odkaz:
https://doaj.org/article/bad5efcab01a4fec982fe5fa0b2c6799
Autor:
Takahito Moriwaki, Mitsuo Masuno, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Kayo Takao, Kazumi Tawa, Yasuko Yamanouchi, Atsushi Miki, Takanobu Otomo
Publikováno v:
Human Genome Variation, Vol 10, Iss 1, Pp 1-4 (2023)
Abstract We report a Japanese patient with tall stature, dolichocephaly, prominent forehead, narrow nasal ridge, mild retrognathia, subcutaneous fat reduction, bilateral entropion of both eyelids, high arched palate, long fingers, and mild hyperexten
Externí odkaz:
https://doaj.org/article/63f7d5ce849d459d832de890c1b99d1a
Autor:
Kaoru Eto, Osamu Machida, Tomoe Yanagishita, Keiko Shimojima Yamamoto, Kentaro Chiba, Yasuo Aihara, Yuuki Hasegawa, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Satoru Nagata, Toshiyuki Yamamoto
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-5 (2022)
Abstract Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities (MIM # 618092) is a congenital disorder derived from pathogenic variants of the B-cell leukemia/lymphoma 11B gene (BCL11B). Several variants h
Externí odkaz:
https://doaj.org/article/29ef0b91f46845918ebc8ee21f3bec24
Autor:
Viktoriia Sofronova, Yu Fukushima, Mitsuo Masuno, Mami Naka, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Takahito Moriwaki, Rina Iwata, Seigo Terawaki, Yasuko Yamanouchi, Takanobu Otomo
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-6 (2022)
Coffin-Siris syndrome: New mutation implicated Genomic sequencing has revealed a new causative mutation for Coffin-Siris syndrome (CSS), a very rare disease characterized by developmental delays, intellectual disability and various anatomical abnorma
Externí odkaz:
https://doaj.org/article/b4113a2a404e4759b2900d95661efd41
Autor:
Takeshi Yagyu, Teruo Noguchi, Yoshihiro Asano, Kazufumi Ida, Soshiro Ogata, Kunihiro Nishimura, Hitoshi Matsuda
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 12, Iss 8 (2023)
Background Differences in the clinical course of heritable thoracic aortic disease based on the disease‐causing gene have not been fully evaluated. To clarify the clinical relevance of causative genes in heritable thoracic aortic disease, we assess
Externí odkaz:
https://doaj.org/article/f4e795de0a734c6d8d170ef77e7548af
Autor:
Michiyo Mizuno, Ikuko Chiba, Toru Mukohara, Miki Kondo, Kazushi Maruo, Tomohiro Ohigashi, Miki Naruo, Yoshihiro Asano, Tatsuya Onishi, Hiroshi Tanabe, Rieko Muta, Saori Mishima, Susumu Okano, Masami Yuda, Ako Hosono, Yuri Ueda, Hiroko Bando, Hiroya Itagaki, Carol Estwing Ferrans, Tetsuo Akimoto
Publikováno v:
Contemporary Clinical Trials Communications, Vol 30, Iss , Pp 101035- (2022)
Background: The aim of the trial is to evaluate the effectiveness of interventions provided by online support program apps, adopting health-related quality of life (HR-QOL) scores as indicators. Methods: The design is as an open, randomized, parallel
Externí odkaz:
https://doaj.org/article/f42c280edfd14d53b2fc8ca342384431
Autor:
Kyung-Duk Min, Masanori Asakura, Manabu Shirai, Satoru Yamazaki, Shin Ito, Hai Ying Fu, Hiroshi Asanuma, Yoshihiro Asano, Tetsuo Minamino, Seiji Takashima, Masafumi Kitakaze
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-15 (2021)
Abstract Cardiogenesis requires the orchestrated spatiotemporal tuning of BMP signalling upon the balance between induction and counter-acting suppression of the differentiation of the cardiac tissue. SMADs are key intracellular transducers and the s
Externí odkaz:
https://doaj.org/article/2198c64f663f4df99340febaa636532e
Autor:
Tomoe Yanagishita, Kaoru Eto, Keiko Yamamoto-Shimojima, Osamu Segawa, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Yasushi Sakata, Satoru Nagata, Toshiyuki Yamamoto
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-4 (2021)
Abstract A recurrent ZSWIM6 variant, NM_020928.2:c.2737C>T [p.Arg913*], was identified in a Japanese male patient with severe neurodevelopmental delay, epilepsy, distinctive facial features, microcephaly, growth deficiency, abnormal behavior, and fre
Externí odkaz:
https://doaj.org/article/600e11a0285f4005985f092f5858fa45