Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Kohji Kato"'
Autor:
Yusuke Okuno, Shinji Saitoh, Noriko Nagai, Taichi Kato, Hidenori Yamamoto, Yoshiyuki Takahashi, Kohji Kato, Satoshi Hayano, Atsuto Onoda, Yoshie Fukasawa
Publikováno v:
International Journal of Cardiology. 326:81-87
Background A gain-of-function mutation in germline ABL1 causes a syndrome including congenital heart defects. However, the molecular mechanisms of this syndrome remain unknown. In this study, we found a novel ABL1 mutation in a Japanese family with v
Autor:
Alyssa L. Ritter, Jessica Gold, Hiroshi Hayashi, Amanda M. Ackermann, Stephanie Hanke, Cara Skraban, Sanmati Cuddapah, Elizabeth Bhoj, Dong Li, Yukiko Kuroda, Jessica Wen, Ryojun Takeda, Audrey Bibb, Salima El Chehadeh, Amélie Piton, Jeanine Ohl, Mary K. Kukolich, Keisuke Nagasaki, Kohji Kato, Tomoo Ogi, Tricia Bhatti, Pierre Russo, Bryan Krock, Jill R. Murrell, Jennifer A. Sullivan, Vandana Shashi, Nicholas Stong, Hakon Hakonarson, Kentaro Sawano, Erin Torti, Rebecca Willaert, Yue Si, William Ross Wilcox, Katrine Verena Wirgenes, Kristian Thomassen, Katherine Carlotti, Angelika Erwin, Joanna Lazier, Thorsten Marquardt, Miao He, Andrew C. Edmondson, Kosuke Izumi
Publikováno v:
Genet Med
PURPOSE: This study aimed to describe the phenotypic and molecular characteristics of ARCN1-related syndrome. METHODS: Patients with ARCN1 variants were identified, and clinician researchers were connected using GeneMatcher and physician referrals. C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d86f4d63eea8ccc80eff372d25a1e057
https://europepmc.org/articles/PMC9923403/
https://europepmc.org/articles/PMC9923403/
Autor:
Sarah E.M. Stephenson, Gregory Costain, Laura E.R. Blok, Michael A. Silk, Thanh Binh Nguyen, Xiaomin Dong, Dana E. Alhuzaimi, James J. Dowling, Susan Walker, Kimberly Amburgey, Robin Z. Hayeems, Lance H. Rodan, Marc A. Schwartz, Jonathan Picker, Sally A. Lynch, Aditi Gupta, Kristen J. Rasmussen, Lisa A. Schimmenti, Eric W. Klee, Zhiyv Niu, Katherine E. Agre, Ilana Chilton, Wendy K. Chung, Anya Revah-Politi, P.Y. Billie Au, Christopher Griffith, Melissa Racobaldo, Annick Raas-Rothschild, Bruria Ben Zeev, Ortal Barel, Sebastien Moutton, Fanny Morice-Picard, Virginie Carmignac, Jenny Cornaton, Nathalie Marle, Orrin Devinsky, Chandler Stimach, Stephanie Burns Wechsler, Bryan E. Hainline, Katie Sapp, Marjolaine Willems, Ange-line Bruel, Kerith-Rae Dias, Carey-Anne Evans, Tony Roscioli, Rani Sachdev, Suzanna E.L. Temple, Ying Zhu, Joshua J. Baker, Ingrid E. Scheffer, Fiona J. Gardiner, Amy L. Schneider, Alison M. Muir, Heather C. Mefford, Amy Crunk, Elizabeth M. Heise, Francisca Millan, Kristin G. Monaghan, Richard Person, Lindsay Rhodes, Sarah Richards, Ingrid M. Wentzensen, Benjamin Cogné, Bertrand Isidor, Mathilde Nizon, Marie Vincent, Thomas Besnard, Amelie Piton, Carlo Marcelis, Kohji Kato, Norihisa Koyama, Tomoo Ogi, Elaine Suk-Ying Goh, Christopher Richmond, David J. Amor, Jessica O. Boyce, Angela T. Morgan, Michael S. Hildebrand, Antony Kaspi, Melanie Bahlo, Rún Friðriksdóttir, Hildigunnur Katrínardóttir, Patrick Sulem, Kári Stefánsson, Hans Tómas Björnsson, Simone Mandelstam, Manuela Morleo, Milena Mariani, Marcello Scala, Andrea Accogli, Annalaura Torella, Valeria Capra, Mathew Wallis, Sandra Jansen, Quinten Waisfisz, Hugoline de Haan, Simon Sadedin, Sze Chern Lim, Susan M. White, David B. Ascher, Annette Schenck, Paul J. Lockhart, John Christodoulou, Tiong Yang Tan
Publikováno v:
TUDP Study Group & Broad Center for Mendelian Genomics 2022, ' Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome ', American journal of human genetics, vol. 109, no. 4, pp. 601-617 . https://doi.org/10.1016/j.ajhg.2022.03.002
American Journal of Human Genetics, 109, 601-617
Am J Hum Genet
American journal of human genetics, 109(4), 601-617. Cell Press
American Journal of Human Genetics, 109, 4, pp. 601-617
American Journal of Human Genetics, 109, 601-617
Am J Hum Genet
American journal of human genetics, 109(4), 601-617. Cell Press
American Journal of Human Genetics, 109, 4, pp. 601-617
Neurodevelopmental disorders are highly heterogenous conditions resulting from abnormalities of brain architecture and/or function. FBXW7 (F-box and WD-repeat-domain-containing 7), a recognized developmental regulator and tumor suppressor, has been s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d86d68479414d6d44e2d08be3692959a
https://doi.org/10.1016/j.ajhg.2022.03.002
https://doi.org/10.1016/j.ajhg.2022.03.002
Autor:
Kotaro Narita, Hideki Muramatsu, Satoshi Narumi, Yuji Nakamura, Yusuke Okuno, Kyogo Suzuki, Motoharu Hamada, Naoya Yamaguchi, Atsushi Suzuki, Yosuke Nishio, Anna Shiraki, Ayako Yamamori, Yusuke Tsumura, Fumi Sawamura, Masahiro Kawaguchi, Manabu Wakamatsu, Shinsuke Kataoka, Kohji Kato, Hideyuki Asada, Tetsuo Kubota, Yukako Muramatsu, Hiroyuki Kidokoro, Jun Natsume, Seiji Mizuno, Tomohiko Nakata, Hidehito Inagaki, Naoko Ishihara, Takahiro Yonekawa, Akihisa Okumura, Tomoo Ogi, Seiji Kojima, Tadashi Kaname, Tomonobu Hasegawa, Shinji Saitoh, Yoshiyuki Takahashi
Publikováno v:
Scientific reports. 12(1)
Recently, whole-exome sequencing (WES) has been used for genetic diagnoses of patients who remain otherwise undiagnosed. WES was performed in 177 Japanese patients with undiagnosed conditions who were referred to the Tokai regional branch of the Init
Autor:
Tadashi Kaname, Ken Inoue, Keiko Yamamoto-Shimojima, Kohji Kato, Hideki Muramatsu, Toshiyuki Yamamoto, Taichi Imaizumi, Yusuke Okuno, Yusuke Aoki
Publikováno v:
Journal of Human Genetics. 64:665-671
Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive disorder caused by abnormalities in the gene PLP1. Most females harboring heterozygous PLP1 abnormalities are basically asymptomatic. However, as a result of abnormal patterns of X-chromosom
Publikováno v:
Journal of human genetics. 66(5)
CUL3 forms Cullin-Ring ubiquitin ligases (CRL) with Ring-box protein and BTB-adaptor proteins. A variety of BTB-adaptor proteins have been reported to interact with the N-terminus of CUL3, which makes it possible to recognize various substrates for d
Autor:
Kenichi Mishima, Tadashi Nagata, Hiroshi Kitoh, Yasunari Kamiya, Tomoo Ogi, Masaki Matsushita, Naoki Ishiguro, Kohji Kato, Miho Toyama
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Background Achondroplasia (ACH), the most common form of short‐limbed skeletal dysplasia, is caused by gain‐of‐function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. More than 97% of patients result from a heterozygous p.G3
Autor:
Daisuke Ieda, Tomomi Miyamoto, Makoto Nakanishi, Yutaka Negishi, Kohji Kato, Shinya Ugawa, Hisashi Oishi, Natsuko Kumamoto, Shinji Saitoh, Ichiro Miyoshi, Yoshikazu Johmura
Publikováno v:
PLoS ONE, Vol 15, Iss 8, p e0237814 (2020)
PLoS ONE
PLoS ONE
Schaaf-Yang syndrome (SYS) is a neurodevelopmental disorder caused by truncating variants in the paternal allele of MAGEL2, located in the Prader-Willi critical region, 15q11-q13. Although the phenotypes of SYS overlap those of Prader-Willi syndrome
Autor:
Yoshinao Wada, Yohei Iguchi, Miho Toyama, Kohji Kato, Tomoo Ogi, Nobuhiko Okamoto, Ryoichi Nakamura, Kentaro Sahashi, Kunihiko Araki, Daisuke Ito, Kensuke Hamada, Tomohiko Nakamura, Masahisa Katsuno
Publikováno v:
Epilepsy Research. 164:106371
We report on familial 5 epilepsy patients with autosomal dominant inheritance of a novel heterozygous NUS1 frameshift mutation. All patients had cerebellar ataxia and tremor. Three patients were diagnosed with childhood absence epilepsy, 1 patient wi
Autor:
Yuji Nakamura, Naomi Tsuchida, Yoshiyuki Takahashi, Shinji Saitoh, Kohji Kato, Naomichi Matsumoto
Publikováno v:
PLoS ONE
PLoS ONE, Vol 14, Iss 8, p e0221482 (2019)
PLoS ONE, Vol 14, Iss 8, p e0221482 (2019)
There have been increasing number of reports of SZT2-related neurological diseases, the main symptoms of which are epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum. SZT2 functions as a regulator of mechanistic target of ra