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A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.
Gennarino, Vincenzo A; Palmer, Elizabeth E; McDonell, Laura M; Wang, Li; Adamski, Carolyn J; Koire, Amanda; See, Lauren; Chen, Chun-An; Schaaf, Christian P; Rosenfeld, Jill A; Panzer, Jessica A; Moog, Ute; Hao, Shuang; Bye, Ann; Kirk, Edwin P; Stankiewicz, Pawel; Breman, Amy M; McBride, Arran; Kandula, Tejaswi; Dubbs, Holly A; Macintosh, Rebecca; Cardamone, Michael; Zhu, Ying; Ying, Kevin; Dias, Kerith-Rae; Cho, Megan T; Henderson, Lindsay B; Baskin, Berivan; Morris, Paula; Tao, Jiang; Cowley, Mark J; Dinger, Marcel E; Roscioli, Tony; Caluseriu, Oana; Suchowersky, Oksana; Sachdev, Rani K; Lichtarge, Olivier; Tang, Jianrong; Boycott, Kym M; Holder, J Lloyd; Zoghbi, Huda Y.
Afiliação
  • Gennarino VA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: vag2138@cumc.columbia.edu.
  • Palmer EE; Sydney Children's Hospital, Randwick, NSW 2031, Australia; School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, NSW 2031, Australia; Genetics of Learning Disability Service, Waratah, NSW 2298, Australia.
  • McDonell LM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
  • Wang L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA.
  • Adamski CJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA.
  • Koire A; Program in Quantitative and Computational Biosciences, Baylor College of Medicine, Houston, TX 77030, USA.
  • See L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Chen CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA.
  • Schaaf CP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA.
  • Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Panzer JA; Department of Pediatrics, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Moog U; Institute of Human Genetics, Heidelberg University, Im Neuenheimer Feld 440, 69120 Heidelberg, Germany.
  • Hao S; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Bye A; Sydney Children's Hospital, Randwick, NSW 2031, Australia; School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, NSW 2031, Australia.
  • Kirk EP; Sydney Children's Hospital, Randwick, NSW 2031, Australia; School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, NSW 2031, Australia; Genetics Laboratory, NSW Health Pathology East Randwick, Sydney, NSW, Australia.
  • Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Baylor College of Medicine, Houston, TX 77030, USA.
  • Breman AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Baylor College of Medicine, Houston, TX 77030, USA.
  • McBride A; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
  • Kandula T; Sydney Children's Hospital, Randwick, NSW 2031, Australia; School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, NSW 2031, Australia.
  • Dubbs HA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Macintosh R; Sydney Children's Hospital, Randwick, NSW 2031, Australia.
  • Cardamone M; Sydney Children's Hospital, Randwick, NSW 2031, Australia; School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, NSW 2031, Australia.
  • Zhu Y; Genetics Laboratory, NSW Health Pathology East Randwick, Sydney, NSW, Australia.
  • Ying K; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia.
  • Dias KR; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia.
  • Cho MT; GeneDx, 207 Perry Pkwy Gaithersburg, MD 20877, USA.
  • Henderson LB; GeneDx, 207 Perry Pkwy Gaithersburg, MD 20877, USA.
  • Baskin B; GeneDx, 207 Perry Pkwy Gaithersburg, MD 20877, USA.
  • Morris P; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia.
  • Tao J; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia; St. Vincent's Clinical School, University of New South Wales, Sydney, NSW 2010, Australia.
  • Cowley MJ; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia; St. Vincent's Clinical School, University of New South Wales, Sydney, NSW 2010, Australia.
  • Dinger ME; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia; St. Vincent's Clinical School, University of New South Wales, Sydney, NSW 2010, Australia.
  • Roscioli T; Sydney Children's Hospital, Randwick, NSW 2031, Australia; Genetics Laboratory, NSW Health Pathology East Randwick, Sydney, NSW, Australia; Neuroscience Research Australia and Prince of Wales Clinical School, University of New South Wales, Randwick, NSW 2031, Australia.
  • Caluseriu O; Department of Medical Genetics, University of Alberta, AB T6G 2H7, Canada.
  • Suchowersky O; Department of Medical Genetics, University of Alberta, AB T6G 2H7, Canada; Departments of Medicine (Neurology) and Pediatrics, University of Alberta, AB, Canada.
  • Sachdev RK; Sydney Children's Hospital, Randwick, NSW 2031, Australia; School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, NSW 2031, Australia.
  • Lichtarge O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Tang J; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
  • Holder JL; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Zoghbi HY; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of
Cell ; 172(5): 924-936.e11, 2018 02 22.
Article em En | MEDLINE | ID: mdl-29474920
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Convulsões / Deficiências do Desenvolvimento / Proteínas de Ligação a RNA / Predisposição Genética para Doença / Haploinsuficiência / Mutação Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged80 / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Cell Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Convulsões / Deficiências do Desenvolvimento / Proteínas de Ligação a RNA / Predisposição Genética para Doença / Haploinsuficiência / Mutação Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged80 / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Cell Ano de publicação: 2018 Tipo de documento: Article