Shigeo Kure spends much of his time researching Genetics, Internal medicine, Endocrinology, Molecular biology and Mutation. His studies in Missense mutation, Haplotype, GCSH, Cardiofaciocutaneous syndrome and Exon are all subfields of Genetics research. His Internal medicine research includes elements of Gastroenterology, HRAS, PTPN11 and Costello syndrome.
Shigeo Kure has included themes like Phenylalanine, Hyperphenylalaninemia, Phenylalanine hydroxylase and KRAS in his Endocrinology study. His Molecular biology research is multidisciplinary, incorporating perspectives in Biochemistry, Mutant, Point mutation, Allele and Placenta. His Mutation research is multidisciplinary, incorporating elements of Phenotype and Glycine cleavage system, Hyperglycinemia, Glycine encephalopathy.
His primary areas of study are Genetics, Internal medicine, Endocrinology, Molecular biology and Mutation. His work is connected to Gene, Exon, Missense mutation, Allele and Mutation, as a part of Genetics. His Internal medicine research incorporates elements of Gastroenterology, Glycine cleavage system, Hyperglycinemia and Cardiology.
His Endocrinology study frequently draws connections between related disciplines such as Phenylalanine hydroxylase. The various areas that Shigeo Kure examines in his Molecular biology study include Complementary DNA, Biochemistry and Mutant. His study in Point mutation and Compound heterozygosity falls under the purview of Mutation.
His main research concerns Internal medicine, Endocrinology, Genetics, Cohort study and Pediatrics. The Internal medicine study combines topics in areas such as Mitochondrial Size, Gastroenterology and Mitochondrial disease. His specific area of interest is Endocrinology, where he studies Kidney.
He integrates many fields, such as Genetics and Upstream, in his works. The study incorporates disciplines such as Odds ratio, Pregnancy, Biobank, Obstetrics and Cohort in addition to Cohort study. As part of one scientific family, he deals mainly with the area of Pediatrics, narrowing it down to issues related to the Intellectual disability, and often Rett syndrome, Phenotype and Missense mutation.
Shigeo Kure mostly deals with Internal medicine, Cohort, Cohort study, Missense mutation and Phenotype. Shigeo Kure combines subjects such as Gastroenterology and Endocrinology with his study of Internal medicine. His Endocrinology research integrates issues from Maternal phenylketonuria and Phenylalanine restricted diet.
His Missense mutation study incorporates themes from Metabolic disorder, Database, Cerebral palsy, Frameshift mutation and Neurodevelopmental disorder. The concepts of his Phenotype study are interwoven with issues in Transcription, Small RNA, Mutant and Mitochondrial translation. His Genome-wide association study study improves the overall literature in Genetics.
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Germline mutations in HRAS proto-oncogene cause Costello syndrome
Yoko Aoki;Tetsuya Niihori;Hiroshi Kawame;Kenji Kurosawa.
Nature Genetics (2005)
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
Tetsuya Niihori;Yoko Aoki;Yoko Narumi;Giovanni Neri.
Nature Genetics (2006)
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene
Fumiaki Kamada;Yoko Aoki;Ayumi Narisawa;Yu Abe.
Journal of Human Genetics (2011)
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
Shigeo Kure;Dian Chang Hou;Toshihiro Ohura;Hiroko Iwamoto.
The Journal of Pediatrics (1999)
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
Yoko Aoki;Tetsuya Niihori;Yoko Narumi;Shigeo Kure.
Human Mutation (2008)
Glutamate triggers internucleosomal DNA cleavage in neuronal cells
Shigeo Kure;Teiji Tominaga;Takashi Yoshimoto;Keiya Tada.
Biochemical and Biophysical Research Communications (1991)
Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals
Masao Nagasaki;Jun Yasuda;Fumiki Katsuoka;Naoki Nariai.
Nature Communications (2015)
Endonuclease activation following focal ischemic injury in the rat brain
Teiji Tominaga;Shigeo Kure;Kuniaki Narisawa;Takashi Yoshimoto.
Brain Research (1993)
Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population.
Takayuki Kudo;Katsuhisa Ikeda;Shigeo Kure;Yoichi Matsubara.
American Journal of Medical Genetics (2000)
Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease.
S. Miyatake;N. Miyake;H. Touho;A. Nishimura-Tadaki.
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