Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Shinji Saitoh"'
Autor:
Farnaz Hosseini Beheshti, Noriko Miyake, Shermineh Heydari, Jafar Nasiri, Shinji Saitoh, Ahmad Reza Salehi Chaleshtori, Naomichi Matsumoto, Kohei Hamanaka, Atsushi Takata, Masoud Garshasbi
Publikováno v:
Journal of Human Genetics. 66:445-448
Intellectual disability (ID) accounts for 1% of the general population, and it is caused by the interplay between the genetic and/or environmental factors. The genetic components responsible for the development of ID are highly heterogeneous, and the
Autor:
Shinji Saitoh, Masanori Kouwaki, Hitoshi Kanno, Hiromi Ogura, Takahiro Sugiura, Tomoko Suzuki, Toshiyuki Yamamoto, Takao Togawa
Publikováno v:
Journal of Pediatric Hematology/Oncology. 43:e250-e254
Hereditary pyropoikilocytosis is a subtype of hereditary elliptocytosis because of biallelic mutations of SPTA1, SPTB, and EPB41. The authors present a proband with neonatal jaundice and hemolytic anemia, with poikilocytosis in the blood film. Target
Autor:
Nobuhiko, Okamoto, Fuyuki, Miya, Tatsuhiko, Tsunoda, Yonehiro, Kanemura, Shinji, Saitoh, Mitsuhiro, Kato, Kumiko, Yanagi, Tadashi, Kaname, Kenjiro, Kosaki
Publikováno v:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 43(4)
Aminoacyl tRNA synthetases (ARSs) are highly conserved enzymes that link amino acids to their cognate tRNAs. Thirty-seven ARSs are known and their deficiencies cause various genetic disorders. Variants in some ARSs are associated with the autosomal d
Autor:
Kenji Ichinomiya, Yoshihiko Shitara, Yasunari Sakai, Aya Inaba, Nobuhiko Okamoto, Kazuyori Yagyu, Naomichi Matsumoto, Kiyoko Sameshima, Adila Al-Kindy, Satoru Takeda, Yumi Habata, Masataka Hisano, Kunimasa Yan, Noriko Miyake, Toshifumi Suzuki, Masato Hiyane, Yasuko Kobayashi, Shuichi Ito, Hideaki Shiraishi, Mai Sato, Kazuhiro Haginoya, Seiji Mizuno, Noboru Fueki, Konomi Shimoda, Yuki Ueda, Kazuhiro Muramatsu, Yumiko Komatsu, Shigemi Kimura, Yu Tsuyusaki, Daisuke Ieda, Hiroshi Suzumura, Hirotomo Saitsu, Yoshinori Tsurusaki, Mitsuko Nakashima, Midori Nakajima, Shinji Saitoh, Kenji Kurosawa, Chikage Yoshizawa
Publikováno v:
Clinical Genetics. 90:526-535
Joubert syndrome (JS) is rare recessive disorders characterized by the combination of hypoplasia/aplasia of the cerebellar vermis, thickened and elongated superior cerebellar peduncles, and a deep interpeduncular fossa which is defined by neuroimagin
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:
Mitsuhiro Kato, Yasuhiro Suzuki, Kenjiro Kosaki, Shinji Saitoh, Mami Yamasaki, Yoshikazu Hatsukawa, Fuyuki Miya, Nobuhiko Okamoto, Tatsuhiko Tsunoda, Yuto Yamamoto, Yonehiro Kanemura, Kazumi Kawato
Publikováno v:
Journal of Human Genetics. 62:927-929
Inherited optic neuropathies (IONs) are neurodegenerative disorders affecting the optic nerve and the nervous system. Dominant and recessive IONs are known. Many of the dominant IONs are caused by mutations of OPA1. Autosomal-recessive IONs are rare.
Autor:
Masakazu Nakamura, Hiroaki Yaguchi, Ichiro Yabe, Kana Hosoki, Hidenao Sasaki, Akira Sudo, Shinji Saitoh
Publikováno v:
Journal of Medical Genetics. 47:659-664
Background : Myoclonic epilepsy with ragged-red fibres (MERRF) and mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) are established phenotypes of mitochondrial encephalomyopathy. The m.8356T>C transition in the mitochond
Autor:
Gisèle Bonne, Maud Beuvin, Jean-Philippe Jais, Simon Heath, Annie Verschueren, Diana Zelenika, Maria Hoeltzenbein, Christine Tranchant, Manfred Wehnert, Emmanuelle Lacène, Lucie Gueneau, Simone Spuler, Tanya Stojkovic, Thomas Voit, Rabah Ben Yaou, Mustafa A. Salih, Anne Bertrand, Norma B. Romero, Bruno Eymard, Shinji Saitoh
Publikováno v:
The American Journal of Human Genetics. 85(3):338-353
Emery-Dreifuss muscular dystrophy (EDMD) is a rare disorder characterized by early joint contractures, muscular dystrophy, and cardiac involvement with conduction defects and arrhythmias. So far, only 35% of EDMD cases are genetically elucidated and
Autor:
Takahito Wada, Shinji Saitoh, Keishi Fujiwara, Mayumi Kitagawa, Yashio Suzuki, Masaaki Niino, Ken Sakushima, Hidenao Sasaki, Sachiko Tsuji, Norihito Takeichi, Takashi Tsubuku, Ichiro Yabe, Hiroyuki Soma
Publikováno v:
Journal of Neurology. 255(10):1541-1544
Clinical examinations and mutational analyses were carried out in three patients of a Japanese familial hemiplegic migraine (FHM) pedigree. Each affected member demonstrated a broad clinical spectrum that included hemiplegic migraine with progressive
Autor:
Mitsuhiro Kato, Nobuhiko Okamoto, Takashi Morizono, Daichi Shigemizu, Kenjiro Kosaki, Mami Yamasaki, Tetsuo Abe, Tadashi Shiohama, Shinji Saitoh, Fuyuki Miya, Yonehiro Kanemura, Keith A. Boroevich, Tatsuhiko Tsunoda
Publikováno v:
Scientific Reports
Whole-exome sequencing (WES) is a useful method to identify disease-causing mutations, however, often no candidate mutations are identified using commonly available targeted probe sets. In a recent analysis, we also could not find candidate mutations