Yoichi Matsubara spends much of his time researching Genetics, Internal medicine, Mutation, Endocrinology and HRAS. His Genetics study typically links adjacent topics like Cell biology. The various areas that Yoichi Matsubara examines in his Internal medicine study include Gastroenterology and Genotype.
He has included themes like Hypotonia, Short stature and Exon in his Mutation study. His HRAS research is multidisciplinary, incorporating perspectives in Noonan syndrome, Cardiofaciocutaneous syndrome, PTPN11 and Costello syndrome. His research investigates the link between Costello syndrome and topics such as Noonan Syndrome with Multiple Lentigines that cross with problems in Legius syndrome.
Yoichi Matsubara focuses on Genetics, Mutation, Internal medicine, Molecular biology and Endocrinology. His studies deal with areas such as Phenotype, Cancer research, Methylmalonic acidemia and Pathology as well as Mutation. His Internal medicine study combines topics from a wide range of disciplines, such as Gastroenterology, Glycine cleavage system, Glycine encephalopathy and PTPN11.
Yoichi Matsubara works mostly in the field of Molecular biology, limiting it down to concerns involving Polymerase chain reaction and, occasionally, Mutation. His Endocrinology research incorporates elements of Hyperglycinemia, Phenylalanine, Costello syndrome and HRAS. His HRAS research is multidisciplinary, relying on both RASopathy and Noonan Syndrome with Multiple Lentigines.
His primary scientific interests are in Genetics, Internal medicine, Mutation, Endocrinology and Gene. His study in Exome sequencing, Missense mutation, Exon, Phenotype and Exome falls under the purview of Genetics. His studies in Missense mutation integrate themes in fields like SOX9 and Frameshift mutation.
In his research, Adverse effect is intimately related to Gastroenterology, which falls under the overarching field of Internal medicine. He works mostly in the field of Mutation, limiting it down to topics relating to Cancer research and, in certain cases, Fusion gene and Pathogenesis, as a part of the same area of interest. His research in Endocrinology intersects with topics in Hypotonia and Proband.
His primary areas of study are Genetics, Mutation, Internal medicine, Gene and Missense mutation. Genetics is closely attributed to Short stature in his work. He works in the field of Mutation, focusing on RASopathy in particular.
His Internal medicine research includes themes of Endocrinology and Chromosome 20. His Missense mutation study combines topics from a wide range of disciplines, such as Hypotonia, Molecular biology, Mutant and Hypertelorism. As part of the same scientific family, he usually focuses on Noonan syndrome, concentrating on Costello syndrome and intersecting with Proband, Hypoketotic hypoglycemia, Legius syndrome and HRAS.
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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)
Recent advances in RASopathies.
Yoko Aoki;Tetsuya Niihori;Shin Ichi Inoue;Yoichi Matsubara.
Journal of Human Genetics (2016)
Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome
Yoko Aoki;Tetsuya Niihori;Toshihiro Banjo;Nobuhiko Okamoto.
American Journal of Human Genetics (2013)
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)
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome
Caroline Nava;Nadine Hanna;Caroline Michot;Sabrina Pereira.
Journal of Medical Genetics (2007)
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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