Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia.

Niihori, Tetsuya; Ouchi-Uchiyama, Meri; Sasahara, Yoji; Kaneko, Takashi; Hashii, Yoshiko; Irie, Masahiro; Sato, Atsushi; Saito-Nanjo, Yuka; Funayama, Ryo; Nagashima, Takeshi; Inoue, Shin-Ichi; Nakayama, Keiko; Ozono, Keiichi; Kure, Shigeo; Matsubara, Yoichi; Imaizumi, Masue; Aoki, Yoko

Niihori, Tetsuya; Ouchi-Uchiyama, Meri; Sasahara, Yoji; Kaneko, Takashi; Hashii, Yoshiko; Irie, Masahiro; Sato, Atsushi; Saito-Nanjo, Yuka; Funayama, Ryo; Nagashima, Takeshi; Inoue, Shin-Ichi; Nakayama, Keiko; Ozono, Keiichi; Kure, Shigeo; Matsubara, Yoichi; Imaizumi, Masue; Aoki, Yoko.

Afiliação

Niihori T; Department of Medical Genetics, Tohoku University School of Medicine, Sendai 980-8574, Japan. Electronic address: tniihori@med.tohoku.ac.jp.
Ouchi-Uchiyama M; Department of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, Japan; Department of Hematology and Oncology, Miyagi Children's Hospital, Sendai 989-3126, Japan.
Sasahara Y; Department of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, Japan.
Kaneko T; Department of Hematology-Oncology, Tokyo Metropolitan Children's Medical Center, Fuchu 183-8561, Japan.
Hashii Y; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita 565-0871, Japan.
Irie M; Department of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, Japan; Department of Hematology and Oncology, Miyagi Children's Hospital, Sendai 989-3126, Japan.
Sato A; Department of Hematology and Oncology, Miyagi Children's Hospital, Sendai 989-3126, Japan.
Saito-Nanjo Y; Department of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, Japan; Department of Hematology and Oncology, Miyagi Children's Hospital, Sendai 989-3126, Japan.
Funayama R; Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai 980-8575, Japan.
Nagashima T; Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai 980-8575, Japan.
Inoue S; Department of Medical Genetics, Tohoku University School of Medicine, Sendai 980-8574, Japan.
Nakayama K; Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai 980-8575, Japan.
Ozono K; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita 565-0871, Japan.
Kure S; Department of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, Japan.
Matsubara Y; Department of Medical Genetics, Tohoku University School of Medicine, Sendai 980-8574, Japan; National Research Institute for Child Health and Development, Tokyo 157-8535, Japan.
Imaizumi M; Department of Hematology and Oncology, Miyagi Children's Hospital, Sendai 989-3126, Japan.
Aoki Y; Department of Medical Genetics, Tohoku University School of Medicine, Sendai 980-8574, Japan.

Am J Hum Genet ; 97(6): 848-54, 2015 Dec 03.

Article em En | MEDLINE | ID: mdl-26581901

Assuntos

Proteínas de Ligação a DNA/genética; Mutação de Sentido Incorreto; Proto-Oncogenes/genética; Rádio (Anatomia)/anormalidades; Rádio (Anatomia)/metabolismo; Sinostose/genética; Trombocitopenia/congênito; Fatores de Transcrição/genética; Ulna/anormalidades; Ulna/metabolismo; Sequência de Aminoácidos; Animais; Sequência de Bases; Medula Óssea/anormalidades; Medula Óssea/metabolismo; Criança; Pré-Escolar; Exoma; Feminino; Regulação da Expressão Gênica; Hematopoese/genética; Humanos; Proteína do Locus do Complexo MDS1 e EVI1; Masculino; Modelos Moleculares; Dados de Sequência Molecular; Estrutura Terciária de Proteína; Análise de Sequência de DNA; Transdução de Sinais; Sinostose/metabolismo; Trombocitopenia/genética; Trombocitopenia/metabolismo; Fator de Transcrição AP-1/genética; Fator de Transcrição AP-1/metabolismo; Transcrição Gênica; Fator de Crescimento Transformador beta/genética; Fator de Crescimento Transformador beta/metabolismo

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Rádio (Anatomia) / Sinostose / Trombocitopenia / Fatores de Transcrição / Ulna / Proto-Oncogenes / Mutação de Sentido Incorreto / Proteínas de Ligação a DNA Tipo de estudo: Prognostic_studies Limite: Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article

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