Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Shinji Saitoh"'
Autor:
Yutaka Negishi, Daisuke Ieda, Ikumi Hori, Yasuyuki Nozaki, Takanori Yamagata, Hirofumi Komaki, Jun Tohyama, Keisuke Nagasaki, Hiroko Tada, Shinji Saitoh
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)
Abstract Background Schaaf-Yang syndrome (SYS) is a newly recognized imprinting related syndrome, which is caused by a truncating variant in maternally imprinted MAGEL2 located in 15q11-q13. Yet, precise pathomechanism remains to be solved. We sequen
Externí odkaz:
https://doaj.org/article/9452f2d30f0a454aa154805cdae0f6ea
Autor:
Tomoko Fuke, Shinji Saitoh, Tsutomu Ogata, Masayo Kagami, Kazuhito Satou, Kenichiro Hata, Keiko Matsubara, Maki Fukami, Kazuhiko Nakabayashi, Nobuyuki Murakami, Kazuki Yamazawa, Kaori Hara-Isono
Publikováno v:
Clinical Epigenetics
Background Imprinting disorders (IDs) show overlapping phenotypes, particularly in Silver–Russell syndrome (SRS), Temple syndrome (TS14), and Prader–Willi syndrome (PWS). These three IDs include fetal and postnatal growth failure, feeding difficu
Autor:
Shinji Saitoh, Akie Nakamura, Reiko Horikawa, Maki Fukami, Tohru Yorifuji, Rika Kosaki, Keisuke Nagasaki, Tsutomu Ogata, Keiko Matsubara, Seiji Mizuno, Chikahiko Numakura, Masayo Kagami, Yasuhiro Naiki, Toshihiro Tajima
Publikováno v:
Genetics in Medicine
Purpose Temple syndrome (TS14) is a rare imprinting disorder caused by aberrations at the 14q32.2 imprinted region. Here, we report comprehensive molecular and clinical findings in 32 Japanese patients with TS14. Methods We performed molecular studie
Autor:
Takanori Yamagata, Keisuke Nagasaki, Yutaka Negishi, Hirofumi Komaki, Shinji Saitoh, Jun Tohyama, Yasuyuki Nozaki, Ikumi Hori, Hiroko Tada, Daisuke Ieda
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)
BackgroundSchaaf-Yang syndrome (SYS) is a newly recognized imprinting related syndrome, which is caused by a truncating variant in maternally imprintedMAGEL2located in 15q11-q13.Yet, precise pathomechanism remains to be solved. We sequencedMAGEL2in p
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:
Shinji Saitoh, Takahito Wada
Publikováno v:
The American Journal of Human Genetics. 66:1958-1962
To examine the chromatin basis of imprinting in chromosome 15q11-q13, we have investigated the status of histone acetylation of the SNURF-SNRPN locus, which is a key imprinted gene locus in Prader-Willi syndrome (PWS). Chromatin immunoprecipitation (
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
Autor:
Michael J. Higgins, J. M. Gabriel, Shinji Saitoh, Robert D. Nicholls, T. C. Gebuhr, Thomas B. Shows
Publikováno v:
Proceedings of the National Academy of Sciences. 95:14857-14862
Somatic-cell hybrids have been shown to maintain the correct epigenetic chromatin states to study developmental globin gene expression as well as gene expression on the active and inactive X chromosomes. This suggests the potential use of somatic-cel
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
Autor:
Charles A. Williams, Katsuko Kuwajima, James R. Seip, Norio Niikawa, Jeffrey M. Conroy, Karin Buiting, J. M. Gabriel, Shinji Saitoh, Suzanne B. Cassidy, Daniel J. Driscoll, Ikuko Kondo, Stuart Schwartz, Robert D. Nicholls, Bernhard Horsthemke, Gabriele Gillessen-Kaesbach, Peter K. Rogan, Louise R. Greenswag, Christopher C. Glenn
Publikováno v:
Biochemistry Publications
Recent studies have identified a new class of Prader-Willi syndrome (PWS) and Angelman syndrome (AS) patients who have biparental inheritance, but neither the typical deletion nor uniparental disomy (UPD) or translocation. However, these patients hav