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Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome.
Miyake, Noriko; Tsukaguchi, Hiroyasu; Koshimizu, Eriko; Shono, Akemi; Matsunaga, Satoko; Shiina, Masaaki; Mimura, Yasuhiro; Imamura, Shintaro; Hirose, Tomonori; Okudela, Koji; Nozu, Kandai; Akioka, Yuko; Hattori, Motoshi; Yoshikawa, Norishige; Kitamura, Akiko; Cheong, Hae Il; Kagami, Shoji; Yamashita, Michiaki; Fujita, Atsushi; Miyatake, Satoko; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Saitsu, Hirotomo; Ohashi, Kenichi; Imamoto, Naoko; Ryo, Akihide; Ogata, Kazuhiro; Iijima, Kazumoto; Matsumoto, Naomichi.
Afiliação
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Tsukaguchi H; Second Department of Internal Medicine, Kansai Medical University, Osaka 570-8507, Japan. Electronic address: tsukaguh@hirakata.kmu.ac.jp.
  • Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Shono A; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan.
  • Matsunaga S; Department of Microbiology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Shiina M; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Mimura Y; Cellular Dynamics Laboratory, RIKEN, Wako 351-0198, Japan.
  • Imamura S; National Research Institute of Fisheries Science, Yokohama 236-8648, Japan.
  • Hirose T; Department of Molecular Biology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Okudela K; Department of Pathology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Nozu K; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan.
  • Akioka Y; Department of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo 162-8666, Japan.
  • Hattori M; Department of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo 162-8666, Japan.
  • Yoshikawa N; Center for Clinical Research and Development, National Center for Child Health and Development, Tokyo 157-8535, Japan.
  • Kitamura A; Department of Immunology & Parasitology, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima 770-8503, Japan.
  • Cheong HI; Department of Pediatrics, Seoul National University Children's Hospital, Seoul 03080, Korea; Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul 03080, Korea; Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seou
  • Kagami S; Department of Pediatrics, University of Tokushima Graduate School, Tokushima 770-8503, Japan.
  • Yamashita M; National Research Institute of Fisheries Science, Yokohama 236-8648, Japan.
  • Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Tsurusaki Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Saitsu H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Ohashi K; Department of Pathology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Imamoto N; Cellular Dynamics Laboratory, RIKEN, Wako 351-0198, Japan.
  • Ryo A; Department of Microbiology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Ogata K; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Iijima K; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan. Electronic address: naomat@yokohama-cu.ac.jp.
Am J Hum Genet ; 97(4): 555-66, 2015 Oct 01.
Article em En | MEDLINE | ID: mdl-26411495
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Peixe-Zebra / Idade de Início / Complexo de Proteínas Formadoras de Poros Nucleares / Proteínas de Peixe-Zebra / Mutação / Síndrome Nefrótica Tipo de estudo: Etiology_studies Limite: Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Peixe-Zebra / Idade de Início / Complexo de Proteínas Formadoras de Poros Nucleares / Proteínas de Peixe-Zebra / Mutação / Síndrome Nefrótica Tipo de estudo: Etiology_studies Limite: Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article