Sakata Yoshiyuki | Department Of Medical Genetics Tohoku University School Of Medicine

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概要

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著作論文

A novel KCNQ4 one-base deletion in a large pedigree with hearing loss : implication for the genotype-phenotype correlation
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
Novel IRF6 mutations in Japanese patients with Van der Woude Syndrome : two missense mutations (R45Q and P396S) and a 17-kb deletion
Lack of evidence for a significant association between nonsyndromic cleft lip with or without cleft palate and the retinoic acid receptor alpha gene in the Japanese population
Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia
Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations
A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia
Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy
DINUCLEOTIDE REPEAT POLYMORPHISM IN 65k-GLUTAMATE DECARBOXYLASE GENE
Sequence analysis, gene expression, and chromosomal assignment of mouse Borg4 gene and its human orthologue
Neonatal-Onset Brainstem Reticular Reflex Myoclonus Following a Prenatal Brain Insult : Generalized Myoclonic Jerk and a Brainstem Lesion
Cloning, expression analysis, and chromosomal localization of a novel butyrophilin-like receptor
Isolation and chromosomal mapping of a novel human gene showing homology to Na^+/PO4 cotransporter
A novel human gene whose product shares significant homology with the bovine brain-specific protein p25 on chromosome 5p15.3
Isolation, tissue expression, and chromosomal assignment of a novel human gene which encodes a protein with RING finger motif
Cloning, expression analysis, and chromosomal localization of HIP1R, an isolog of huntingtin interacting protein (HIP1)
Isolation, tissue expression, and chromosomal assignment of human RGS5, a novel G-protein signaling regulator gene
Ehlers-Danlos Syndrome and Congenital Heart Anomalies
Primary Hypoparathyroidism in Turner's Syndrome
A novel therapeutic trial of homogentisic aciduria in a murine model of alkaptonuria
Evola : Ortholog database of all human genes in H-InvDB with manual curation of phylogenetic trees
Integrative Annotation of 21,037 Human Genes Validated by Full-Length cDNA Clones
The H-Invitational Database (H-InvDB), a comprehensive annotation resource for human genes and transcripts
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene

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