Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Shinji Saitoh"'
Publikováno v:
eNeurologicalSci, Vol 22, Iss , Pp 100298- (2021)
Background: Angelman syndrome (AS) is neurodevelopmental disorder, causal gene of which is maternally expressed UBE3A. A majority of patients results from the large deletion of relevant chromosome which includes GABAA receptor subunit genes (GABARs)
Externí odkaz:
https://doaj.org/article/3a934c4521be410d8fb3dcde9ea2f280
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
Publikováno v:
eNeurologicalSci
eNeurologicalSci, Vol 22, Iss, Pp 100298-(2021)
eNeurologicalSci, Vol 22, Iss, Pp 100298-(2021)
Background Angelman syndrome (AS) is neurodevelopmental disorder, causal gene of which is maternally expressed UBE3A. A majority of patients results from the large deletion of relevant chromosome which includes GABAA receptor subunit genes (GABARs) a
Autor:
Shinji Saitoh
Publikováno v:
Journal of Pediatric Epilepsy. :017-022
Angelman syndrome (AS) is a neurodevelopmental disorder associated with a unique type of epilepsy. AS is caused by loss of function of the ubiquitin protein ligase E3A (UBE3A) gene. Most cases of AS (70%) are caused by an approximate 5 Mb deletion in
Autor:
Kayoko Saito, Hiroshi Kanazawa, Yu-ichi Goto, Yumi Takahashi, Shinji Saitoh, Kana Hosoki, Makoto Funatsuka, Masafumi Matsushita
Publikováno v:
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 156:799-807
SLC9A6 mutations have been reported in families in whom X-linked mental retardation (XMR) mimics Angelman syndrome (AS). However, the relative importance of SLC9A6 mutations in patients with an AS-like phenotype or XMR has not been fully investigated
Autor:
Fumiya Takeuchi, Kyousuke Kamada, Naoko Asahina, Hideaki Shiraishi, Akira Sudo, Shinobu Kohsaka, Kiyoshi Egawa, Shinji Saitoh, Shingo Nakane
Publikováno v:
NeuroImage. 39:593-599
A role for gamma-aminobutyric acid (GABA)ergic inhibition in cortical sensory processing is one of the principle concerns of brain research. Angelman syndrome (AS) is thought to be one of the few neurodevelopmental disorders with GABAergic-related ge
Autor:
Shinji Saitoh
Publikováno v:
Scopus-Elsevier
Angelman syndrome (AS) is characterized by severe intellectual disability, epilepsy and ataxic motor dysfunction. Paternally imprinted UBE3A, which is located in the imprinted domain of 15q11-q13, is the causative gene of AS. UBE3A is exclusively exp
Autor:
Kenji Sugai, Yuko Matsuda, Masayuki Sasaki, Chiharu Miyatake, Eiji Nakagawa, Hirofumi Komaki, Shinji Saitoh, Eri Takeshita, Yoshiaki Saito, Masahide Goto, Takahiro Motoki, Ryoko Honda, Akihiko Ishiyama, Kenjiro Kikuchi, Takashi Saito, Chieko Uto
Publikováno v:
Braindevelopment. 37(2)
Objective Neurological manifestations including psychomotor developmental delay and epilepsy in patients with Angelman syndrome caused by ubiquitin protein ligase E3A ( UBE3A ) mutations has been considered similar but is relatively milder than that
Autor:
Shinji Saitoh, B. Muralidhar, B. Bilienska, Todd A. Gray, Karin Buiting, Bernhard Horsthemke, Peter K. Rogan, Merlin G. Butler, J. M. Gabriel, Małgorzata Krajewska-Walasek, T. Ohta, Robert D. Nicholls, Daniel J. Driscoll
Publikováno v:
Biochemistry Publications
Scopus-Elsevier
Scopus-Elsevier
SummaryMicrodeletions of a region termed the “imprinting center” (IC) in chromosome 15q11-q13 have been identified in several families with Prader-Willi syndrome (PWS) or Angelman syndrome who show epigenetic inheritance for this region that is c
Publikováno v:
Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics
Imprinted genes are marked in the germline and retain molecular memory of their parental origin, resulting in allelic expression differences during development. Abnormalities in imprinted inheritance occur in several genetic diseases and cancer, and