Zobrazeno 1 - 10
of 163
pro vyhledávání: '"Naomichi Matsumoto"'
Autor:
Tatsuya Watanabe, Hiromi Aoi, Yuki Abe, Takeshi Mizuguchi, Tatsuro Nawa, Toshihiko Uchida, Naomichi Matsumoto, Yoshie Sakurai, Kazuhiro Haginoya
Publikováno v:
Brain and Development. 43:863-866
Background Joubert syndrome is an autosomal recessive or X-linked genetic disease with a cerebellar vermis defect or hypoplasia, hypotonia, ocular dyskinesia, and mental retardation. In neonates, respiratory problems such as apnea and tachypnea are n
Autor:
Daisuke Sawada, Tadashi Shiohama, Katsunori Fujii, Noriko Miyake, Naomichi Matsumoto, Eri Imagawa, Tomohiko Ichikawa, Hiromi Aoyama, Sachiko Naito
Publikováno v:
Brain and Development. 43:798-803
Background Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a hereditary disorder caused by biallelic variants in the EARS2 gene. Patients exhibit developmental delay, hypotonia, and hyperreflexia. Brain magnetic
Autor:
Stephen J. Guter, Laurie A. Demmer, Jasmine Lf Fung, Gerarda Cappuccio, Naomichi Matsumoto, Nicola Brunetti-Pierri, Catherine Sarret, Hamish S. Scott, Lynn Pais, Alison Yeung, Ken Saida, Christopher P. Barnett, Felix Boschann, Andre Heinen, Noriko Miyake, Jenny C. Taylor, Jonathan Gadian, Cyril Mignot, Boris Keren, Sandra Whalen, Hagar Mor-Shaked, Matteo P. Ferla, John Christodoulou, Raffaele Iorio, Alistair T. Pagnamenta, Tiong Yang Tan, Brian Hy Chung, Marcus Cy Chan, Susan M. White, Ruth Sheffer, Dana Mittag, Edwin H. Cook, Jens Schallner, Alicia B. Byrne, Rachel Stapleton, Natalie B Tan, Alison Kraus, Fabiola Di Dato
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, 2021, 1, pp.107462. ⟨10.1136/jmedgenet-2020-107462⟩
Journal of Medical Genetics, 2021, 1, pp.107462. ⟨10.1136/jmedgenet-2020-107462⟩
PurposeBinding proteins (G-proteins) mediate signalling pathways involved in diverse cellular functions and comprise Gα and Gβγ units. Human diseases have been reported for all five Gβ proteins. A de novo missense variant in GNB2 was recently rep
Autor:
Ying Sheng, Yuri Uchiyama, Clara Hammarström, Ane-Marte Øye, Jan Cezary Sitek, Paul Hoff Backe, Hanne Sagsveen Hjorthaug, Anne M. Comi, Kaja Kristine Selmer, Olav Sundnes, Jonathan Pevsner, Magnus Dehli Vigeland, Roar Fjær, Katarzyna Marciniak, Naomichi Matsumoto, Guttorm Haraldsen, Johanna Hol Fosse, Tor Espen Stav-Noraas
Publikováno v:
Human Molecular Genetics
Sturge–Weber syndrome (SWS) is a neurocutaneous disorder characterized by vascular malformations affecting skin, eyes and leptomeninges of the brain, which can lead to glaucoma, seizures and intellectual disability. The discovery of a disease-causi
Autor:
Shuji Takabayashi, Hiroki Mutoh, Naomichi Matsumoto, Mitsuhiro Kato, Takeshi Mizuguchi, Mitsuko Nakashima, Yasuhiko Ago, Revital Ben-Haim, Kazushi Aoto, Atsuo Fukuda, Kyoko Hoshino, Hirotomo Saitsu, Noriyuki Akasaka, Yoshiko Nomura, Noriko Miyake, Eli Heyman, Atsushi Takata, Hazrat Belal, Orna Epstein, Tenpei Akita, Takehiro Miyazaki, Jun Tohyama, Satoko Miyatake, Chihiro Ohba, Ryuta Tanaka
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)
Vacuolar H+-ATPases (V-ATPases) transport protons across cellular membranes to acidify various organelles. ATP6V0A1 encodes the a1-subunit of the V0 domain of V-ATPases, which is strongly expressed in neurons. However, its role in brain development i
Autor:
Masahiro Ito, Yasunari Sakai, Kazuyuki Nakamura, Jun-ichi Takanashi, Koichi Tanda, Jun Tohyama, Kanako Kishimoto, Seiichiro Yoshioka, Yukitoshi Takahashi, Kazuhiro Haginoya, Yu Kobayashi, Naomichi Matsumoto, Ryoko Honda, Masaya Kubota, Koji Tominaga, Hiroshi Fujita, Mitsuko Nakashima, Mitsuhiro Kato, Tomohide Goto, Manabu Tanaka, Takeshi Inoue, Hirotomo Saitsu
Publikováno v:
Brain and Development. 43:505-514
Objective Patients with pathogenic cyclin-dependent kinase-like-5 gene (CDKL5) variants are designated CDKL5 deficiency disorder (CDD). This study aimed to delineate the clinical characteristics of Japanese patients with CDD and elucidate possible ap
Autor:
Shigeo Takashima, Naomichi Matsumoto, Hidetoshi Takada, Yui Takada, Takeshi Mizuguchi, Masashi Morita, Shiena Watanabe, Kazuhiro Iwama, Nobuyuki Shimozawa, Takashi Enokizono, Atsushi Morita, Tatsuyuki Ohto, Mai Tanaka
Publikováno v:
Brain and Development. 43:475-481
Peroxisomal acyl-CoA oxidase (ACOX1) deficiency is a rare autosomal recessive single enzyme deficiency characterized by hypotonia, seizures, failure to thrive, developmental delay, and neurological regression starting from approximately 3 years of ag
Autor:
Yutaro Nagasawa, Junji Takeda, Mina Tsukamoto, Shigeyoshi Itohara, Vitaliy Banov, Naomichi Matsumoto, Qi Zhang, Lenin C. Kandasamy, Sonoko Ogawa, Mitsuhiro Kato, Sambuu Tsetsegee, Larry J. Young
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, 30 (9)
Human Molecular Genetics, 30 (9)
Posttranslational modification of a protein with glycosylphosphatidylinositol (GPI) is a conserved mechanism exists in all eukaryotes. Thus far, >150 human GPI-anchored proteins have been discovered and ~30 enzymes have been reported to be involved i
Autor:
Kei Ohashi, Takanori Yamagata, Masayuki Imaeda, Satomi Fukuhara, Noriko Miyake, Yoshie Kurokawa, Yoshinori Tsurusaki, Tomoko Asai, Masahide Goto, Naomichi Matsumoto, Shinji Saitoh, Tatsuya Anzai, Taishi Miyachi
Publikováno v:
Journal of Autism and Developmental Disorders. 51:4655-4662
Although genetic factors are involved in the etiology of autism spectrum disorder (ASD), the significance of genetic analysis in clinical settings is unclear. Forty-nine subjects diagnosed with non-syndromic ASD were analyzed by microarray comparativ
Autor:
Tomoko Mizuno, Rie Miyata, Akira Hojo, Mitsuhiro Kato, Naomichi Matsumoto, Yumie Tamura, Takeshi Mizuguchi, Mitsuko Nakashima
Publikováno v:
Brain and Development. 43:343-347
Background Recent studies have suggested that two PACS2 pathogenic variants, c.625G > A (p.Glu209Lys) and c.631G > A (p.Glu211Lys), have been causally linked to the characteristic developmental and epileptic encephalopathy, including autistic behavio