1 to 10 of 51 literature results

• Germline mutations in HRAS proto-oncogene cause Costello syndrome.

  Costello syndrome is a multiple congenital anomaly and mental retardation syndrome characterized by coarse face, loose skin, cardiomyopathy and predis…

  Authors: Yoko Aoki, Tetsuya Niihori, Hiroshi Kawame, Kenji Kurosawa, Hirofumi Ohashi, Yukichi Tanaka, Mirella Filocamo, Kumi Kato, Yoichi Suzuki, Shigeo Kure,…

  Source: Nature genetics. 2005 Oct

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• Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

  Cardio-facio-cutaneous (CFC) syndrome is characterized by a distinctive facial appearance, heart defects and mental retardation. It phenotypically ove…

  Authors: Tetsuya Niihori, Yoko Aoki, Yoko Narumi, Giovanni Neri, Hélène Cavé, Alain Verloes, Nobuhiko Okamoto, Raoul C M Hennekam, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek,…

  Source: Nature genetics. 2006 Mar

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• The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

  The RAS proteins and their downstream pathways play pivotal roles in cell proliferation, differentiation, survival and cell death, but their physiolog…

  Authors: Yoko Aoki, Tetsuya Niihori, Yoko Narumi, Shigeo Kure, Yoichi Matsubara

  Source: Human mutation. 2008 Aug

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• Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.

  BACKGROUND: Non-ketotic hyperglycinaemia (NKH) is an inborn error of metabolism characterised by accumulation of glycine in body fluids and various ne…

  Authors: Junko Kanno, Tim Hutchin, Fumiaki Kamada, Ayumi Narisawa, Yoko Aoki, Yoichi Matsubara, Shigeo Kure

  Source: Journal of medical genetics. 2007 Mar

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• Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation.

  OBJECTIVE: To determine whether the devastating outcome of neonatal-onset glycine encephalopathy (NKH) could be improved by instituting treatment imme…

  Authors: Stanley H Korman, Isaiah D Wexler, Alisa Gutman, Marie-Odile Rolland, Junko Kanno, Shigeo Kure

  Source: Annals of neurology. 2006 Feb

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• Detection of single nucleotide substitution by competitive allele-specific short oligonucleotide hybridization (CASSOH) with immunochromatographic strip.

  Recent advances in human genome research have revealed that genetic polymorphisms, such as single nucleotide polymorphisms (SNPs), are closely associa…

  Authors: Yoichi Matsubara, Shigeo Kure

  Source: Human mutation. 2003 Aug

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• Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.

  Noonan syndrome (NS) and related disorders are autosomal dominant disorders characterized by heart defects, facial dysmorphism, ectodermal abnormaliti…

  Authors: Tomoko Kobayashi, Yoko Aoki, Tetsuya Niihori, Hélène Cavé, Alain Verloes, Nobuhiko Okamoto, Hiroshi Kawame, Ikuma Fujiwara, Fumio Takada, Takako Ohata,…

  Source: Human mutation. 2010 Mar

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• Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertension.

  To report two unrelated patients with a new phenotype of nonketotic hyperglycinemia associated with idiopathic pulmonary hypertension. Clinical findin…

  Authors: Mireia del Toro, José Antonio Arranz, Alfons Macaya, Encarnació Riudor, Miquel Raspall, Antonio Moreno, Elida Vazquez, Arancha Ortega, Yoichi Matsubara, Shigeo Kure,…

  Source: Annals of neurology. 2006 Jul

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• Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test.

  OBJECTIVE: It is currently problematic to confirm the clinical diagnosis of glycine encephalopathy, requiring either invasive liver biopsy for enzymat…

  Authors: Shigeo Kure, Stanley H Korman, Junko Kanno, Ayumi Narisawa, Mitsuru Kubota, Toshimitsu Takayanagi, Masaki Takayanagi, Takashi Saito, Akira Matsui, Fumiaki Kamada,…

  Source: Annals of neurology. 2006 May

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• Mutations in the holocarboxylase synthetase gene HLCS.

  Holocarboxylase synthetase (HLCS) deficiency is an autosomal recessive disorder. HLCS is an enzyme that catalyzes biotin incorporation into carboxylas…

  Authors: Yoichi Suzuki, Xue Yang, Yoko Aoki, Shigeo Kure, Yoichi Matsubara

  Source: Human mutation. 2005 Oct

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