Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Shinji Saitoh"'
Autor:
Tadashi Kaname, Mitsuhiro Kato, Fuyuki Miya, Tatsuhiko Tsunoda, Nobuhiko Okamoto, Kumiko Yanagi, Yonehiro Kanemura, Shinji Saitoh, Kenjiro Kosaki
Publikováno v:
Neurological Sciences. 43:2765-2774
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:
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
Publikováno v:
Braindevelopment. 43(4)
Introduction Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are neurodevelopmental disorders caused by loss of function of maternally expressed UBE3A and paternally expressed contiguous genes on chromosome 15q11-13, respectively. A majority o
Autor:
Ayumi Matsumoto, Takashi Tsuboi, Takeo Yoshikawa, Ryoko Fukai, Nobuhiko Okamoto, Yasunari Sakai, Takeshi Mizuguchi, Shouichi Ohga, Hitoshi Osaka, Naomichi Matsumoto, Chizuru Seiwa, Kei Ohashi, Saoko Takeshita, Mako Morikawa, Masatsugu Tsujii, Norio Mori, Kazuyuki Nakamura, Mitsuhiro Kato, Shinji Saitoh, Takashi Okada, Eriko Koshimizu, Aiko Ito, Yota Uno, Toshiro Hara, Kanako Ishizuka, Yoko Hiraki, Noriko Miyake, Toshifumi Suzuki, Tomoko Toyota, Kazuhiko Nakamura, Itaru Kushima, Ryota Hashimoto, Toyojiro Matsuishi, Jun Tohyama, Fumiaki Tanaka, Norio Ozaki, Atsushi Takata, Tomoko Saikusa, Takumi Nakamura, Satoko Miyatake, Tadafumi Kato, Emi Shirahata, Yuka Yasuda, Hirotomo Saitsu, Yoshinori Tsurusaki, Mitsuko Nakashima
Publikováno v:
Cell Reports, Vol 22, Iss 3, Pp 734-747 (2018)
Recent studies have established important roles of de novo mutations (DNMs) in autism spectrum disorders (ASDs). Here, we analyze DNMs in 262 ASD probands of Japanese origin and confirm the "de novo paradigm" of ASDs across ethnicities. Based on this
Autor:
Mari Sugimoto, Yasushi Okazaki, Shinji Saitoh, Akira Ohtake, Kei Murayama, Kaori Aiba, Yukiko Yatsuka, Yuji Nakamura, Kenji Yokochi
Publikováno v:
European Journal of Medical Genetics. 64:104251
Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is caused by a mutation in ATRX, which is essential for proper chromatin remodeling. ATRX dysfunction leads to dysregulation of many genes due to abnormal chromatin remodeling, and c
Autor:
Shinji Saitoh, Mitsuhiro Kato, Nobuhiko Okamoto, Mami Yamasaki, Yonehiro Kanemura, Fuyuki Miya, Tatsuhiko Tsunoda, Kenjiro Kosaki
Publikováno v:
American Journal of Medical Genetics Part A. 173:1644-1648
We identified a novel mutation in ASH1L in a patient with severe intellectual disability, growth failure, microcephaly, facial dysmorphism, myelination delay, and skeletal abnormalities. ASH1L is a histone methyltransferase that associates with the t
Autor:
Kouichi Ozaki, Nobuhiko Okamoto, Akihiro Fujimoto, Fuyuki Miya, Shujiro Okuda, Shintaro Akiyama, Tatsuo Matsunaga, Hidewaki Nakagawa, Shumpei Niida, Daichi Shigemizu, Kenjiro Kosaki, Tatsuhiko Tsunoda, Keith A. Boroevich, Mitsuhiro Kato, Shinji Saitoh, Hideki Mutai, Yonehiro Kanemura, Mami Yamasaki
Publikováno v:
Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-9 (2018)
Scientific Reports, Vol 8, Iss 1, Pp 1-9 (2018)
Insertions and deletions (indels) have been implicated in dozens of human diseases through the radical alteration of gene function by short frameshift indels as well as long indels. However, the accurate detection of these indels from next-generation
Autor:
Mami Yamasaki, Yonehiro Kanemura, Daiju Kitagawa, Tatsuhiko Tsunoda, Mitsuhiro Kato, Kenjiro Kosaki, Keith A. Boroevich, Kumiko Yamashita, Yuki Tsuchiya, Fuyuki Miya, Shinji Saitoh, Nobuhiko Okamoto
Publikováno v:
American journal of medical genetics. Part A. 173(10)
Intellectual disability (ID) is one of neurodevelopmental disorders characterized by serious defects in both intelligence and adaptive behavior. Although it has been suggested that genetic aberrations associated with the process of cell division unde
Autor:
Kohei Aoyama, Takashi Hamajima, Ikumi Hori, Tatsushi Tanaka, Masako Izawa, Takao Togawa, Yutaka Negishi, Shinji Saitoh, Haruo Mizuno, Kei Ohashi
Publikováno v:
Journal of pediatric endocrinologymetabolism : JPEM. 30(10)
Background Congenital hypogonadotropic hypogonadism (CHH) is classified as Kallmann syndrome (KS) with anosmia/hyposmia or normosmic (n)CHH. Here, we investigated the genetic causes and phenotype-genotype correlations in Japanese patients with CHH. M
Autor:
Shinji Saitoh, Takahito Wada, Hideyuki Tanabe, Keiko Wakui, Yoshimitsu Fukushima, Rie Kawamura
Publikováno v:
Chromosome Research
信州大学博士(医学)・学位論文・平成24年7月17日授与(甲第928号)・河村理恵
The final publication is available at link.springer.com
The three-dimensional (3D) structure of the genome is organized non-randomly
The final publication is available at link.springer.com
The three-dimensional (3D) structure of the genome is organized non-randomly