User profiles for "author:Shinji Saitoh"

Shinji Saitoh

Nagoya City University, Graduate School of Medical Sciences
Verified email at med.nagoya-cu.ac.jp
Cited by 9968

Imprinting in Prader–Willi and Angelman syndromes

RD Nicholls, S Saitoh, B Horsthemke - Trends in Genetics, 1998 - cell.com
Imprinted genes are marked in the germline and retain molecular memory of their parental
origin, resulting in allelic expression differences during development. Abnormalities in …

Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15

K Buiting, S Saitoh, S Gross, B Dittrich, S Schwartz… - Nature …, 1995 - nature.com
A subset of patients with Angelman and Prader–Willi syndrome have apparently normal
chromosomes of biparental origin, but abnormal DMA methylation at several loci within …

A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region

MTC Jong, TA Gray, Y Ji, CC Glenn… - Human molecular …, 1999 - academic.oup.com
We describe a complex imprinted locus in chromosome 15q11–q13 that encodes two
genes, ZNF127 and ZNF127AS. The ZNF127 gene encodes a protein with a RING (C3HC4) …

Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene.

CC Glenn, S Saitoh, MT Jong… - American journal of …, 1996 - ncbi.nlm.nih.gov
The human SNRPN (small nuclear ribonucleoprotein polypeptide N) gene is one of a gene
family that encode proteins involved in pre-mRNA splicing and maps to the smallest deletion …

[PDF][PDF] Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy

L Gueneau, AT Bertrand, JP Jais, MA Salih… - The American Journal of …, 2009 - cell.com
Emery-Dreifuss muscular dystrophy (EDMD) is a rare disorder characterized by early joint
contractures, muscular dystrophy, and cardiac involvement with conduction defects and …

Molecular and clinical study of 61 Angelman syndrome patients

S Saitoh, N Harada, Y Jinno… - American journal of …, 1994 - Wiley Online Library
We analyzed 61 Angelman syndrome (AS) patients by cytogenetic and molecular
techniques. On the basis of molecular findings, the patients were classified into the following …

[PDF][PDF] A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)

M Kato, S Saitoh, A Kamei, H Shiraishi, Y Ueda… - The American Journal of …, 2007 - cell.com
Early infantile epileptic encephalopathy with suppression-burst pattern (EIEE) is one of the
most severe and earliest forms of epilepsy, often evolving into West syndrome; however, the …

Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly

Y Yoneda, K Haginoya, M Kato, H Osaka… - Annals of …, 2013 - Wiley Online Library
Abstract Objective: Recently, COL4A1 mutations have been reported in porencephaly and
other cerebral vascular diseases, often associated with ocular, renal, and muscular features …

[PDF][PDF] Dominant-negative mutations in α-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay

H Saitsu, J Tohyama, T Kumada, K Egawa… - The American Journal of …, 2010 - cell.com
A de novo 9q33. 3-q34. 11 microdeletion involving STXBP1 has been found in one of four
individuals (group A) with early-onset West syndrome, severe hypomyelination, poor visual …

[PDF][PDF] Integrative analyses of de novo mutations provide deeper biological insights into autism spectrum disorder

A Takata, N Miyake, Y Tsurusaki, R Fukai, S Miyatake… - Cell reports, 2018 - cell.com
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 …