User profiles for "author:Shinji Saitoh"
Shinji SaitohNagoya 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 …
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 …
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) …
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 …
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
Emery-Dreifuss muscular dystrophy (EDMD) is a rare disorder characterized by early joint
contractures, muscular dystrophy, and cardiac involvement with conduction defects and …
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 …
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)
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 …
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 …
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
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 …
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
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 …
spectrum disorders (ASDs). Here, we analyze DNMs in 262 ASD probands of Japanese …