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Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
Fiordaliso, Sarah K; Iwata-Otsubo, Aiko; Ritter, Alyssa L; Quesnel-Vallières, Mathieu; Fujiki, Katsunori; Nishi, Eriko; Hancarova, Miroslava; Miyake, Noriko; Morton, Jenny E V; Lee, Sangmoon; Hackmann, Karl; Bando, Masashige; Masuda, Koji; Nakato, Ryuichiro; Arakawa, Michiko; Bhoj, Elizabeth; Li, Dong; Hakonarson, Hakon; Takeda, Ryojun; Harr, Margaret; Keena, Beth; Zackai, Elaine H; Okamoto, Nobuhiko; Mizuno, Seiji; Ko, Jung Min; Valachova, Alica; Prchalova, Darina; Vlckova, Marketa; Pippucci, Tommaso; Seiler, Christoph; Choi, Murim; Matsumoto, Naomichi; Di Donato, Nataliya; Barash, Yoseph; Sedlacek, Zdenek; Shirahige, Katsuhiko; Izumi, Kosuke.
Afiliação
  • Fiordaliso SK; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Iwata-Otsubo A; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Ritter AL; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Quesnel-Vallières M; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Fujiki K; Laboratory of Genome Structure and Function, Institute for Quantitative Biosciences, The University of Tokyo, Tokyo 113-8657, Japan.
  • Nishi E; Division of Medical Genetics, Nagano Children's Hospital, Azumino 399-8205, Japan.
  • Hancarova M; Department of Biology and Medical Genetics, 2nd Faculty of Medicine and University Hospital Motol, Charles University, Prague 15006, Czech Republic.
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Edbaston, Birmingham B15 2TG, UK.
  • Lee S; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul 03080, Republic of Korea.
  • Hackmann K; Institute for Clinical Genetics, TU Dresden, Dresden 01307, Germany.
  • Bando M; Laboratory of Genome Structure and Function, Institute for Quantitative Biosciences, The University of Tokyo, Tokyo 113-8657, Japan.
  • Masuda K; Laboratory of Genome Structure and Function, Institute for Quantitative Biosciences, The University of Tokyo, Tokyo 113-8657, Japan.
  • Nakato R; Laboratory of Genome Structure and Function, Institute for Quantitative Biosciences, The University of Tokyo, Tokyo 113-8657, Japan.
  • Arakawa M; Division of Medical Genetics, Nagano Children's Hospital, Azumino 399-8205, Japan.
  • Bhoj E; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Center for Applied Genomics, The Children's Hospital of Ph
  • Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Hakonarson H; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Center for Applied Genomics, The Children's Hospital of Ph
  • Takeda R; Division of Medical Genetics, Nagano Children's Hospital, Azumino 399-8205, Japan.
  • Harr M; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Keena B; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Zackai EH; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka 594-1101, Japan.
  • Mizuno S; Department of Clinical Genetics, Central Hospital, Aichi Developmental Disability Center, Aichi 480-0304, Japan.
  • Ko JM; Department of Pediatrics, Seoul National University College of Medicine, Seoul 03080, Republic of Korea.
  • Valachova A; Department of Medical Genetics, University Hospital Trencin, Trencin 91171, Slovakia.
  • Prchalova D; Department of Biology and Medical Genetics, 2nd Faculty of Medicine and University Hospital Motol, Charles University, Prague 15006, Czech Republic.
  • Vlckova M; Department of Biology and Medical Genetics, 2nd Faculty of Medicine and University Hospital Motol, Charles University, Prague 15006, Czech Republic.
  • Pippucci T; Medical Genetics Unit, Policlinico Sant'Orsola-Malpighi, University of Bologna, Bologna 40138, Italy.
  • Seiler C; Zebrafish Core Facility, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Choi M; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul 03080, Republic of Korea; Department of Pediatrics, Seoul National University College of Medicine, Seoul 03080, Republic of Korea.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Di Donato N; Institute for Clinical Genetics, TU Dresden, Dresden 01307, Germany.
  • Barash Y; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Sedlacek Z; Department of Biology and Medical Genetics, 2nd Faculty of Medicine and University Hospital Motol, Charles University, Prague 15006, Czech Republic.
  • Shirahige K; Laboratory of Genome Structure and Function, Institute for Quantitative Biosciences, The University of Tokyo, Tokyo 113-8657, Japan.
  • Izumi K; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Genomic Diagnostics, Department of Pathology a
Am J Hum Genet ; 105(5): 987-995, 2019 11 07.
Article em En | MEDLINE | ID: mdl-31587868
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Transcrição Gênica / Mutação de Sentido Incorreto / Disfunção Cognitiva Limite: Animals / Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Transcrição Gênica / Mutação de Sentido Incorreto / Disfunção Cognitiva Limite: Animals / Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos