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Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.
Yan, Kezhi; Rousseau, Justine; Littlejohn, Rebecca Okashah; Kiss, Courtney; Lehman, Anna; Rosenfeld, Jill A; Stumpel, Constance T R; Stegmann, Alexander P A; Robak, Laurie; Scaglia, Fernando; Nguyen, Thi Tuyet Mai; Fu, He; Ajeawung, Norbert F; Camurri, Maria Vittoria; Li, Lin; Gardham, Alice; Panis, Bianca; Almannai, Mohammed; Sacoto, Maria J Guillen; Baskin, Berivan; Ruivenkamp, Claudia; Xia, Fan; Bi, Weimin; Cho, Megan T; Potjer, Thomas P; Santen, Gijs W E; Parker, Michael J; Canham, Natalie; McKinnon, Margaret; Potocki, Lorraine; MacKenzie, Jennifer J; Roeder, Elizabeth R; Campeau, Philippe M; Yang, Xiang-Jiao.
Afiliação
  • Yan K; Rosalind & Morris Goodman Cancer Research Center and Department of Medicine, McGill University, Montreal, QC H3A 1A3, Canada.
  • Rousseau J; CHUSJ Research Center, CHU Sainte-Justine, Montreal, QC H3T 1J4, Canada.
  • Littlejohn RO; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX 77030, USA.
  • Kiss C; Kingston General Hospital, 76 Stuart Street, Armstrong 4, Kingston, ON K7L 2V7, Canada.
  • Lehman A; Department of Medical Genetics, University of British Columbia, 4500 Oak Street, Vancouver, BC V6H 3N1, Canada.
  • Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
  • Stumpel CTR; Department of Clinical Genetics and School for Oncology & Developmental Biology, Maastricht University Medical Center, Maastricht 6229, the Netherlands.
  • Stegmann APA; Department of Clinical Genetics and School for Oncology & Developmental Biology, Maastricht University Medical Center, Maastricht 6229, the Netherlands.
  • Robak L; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
  • Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
  • Nguyen TTM; CHUSJ Research Center, CHU Sainte-Justine, Montreal, QC H3T 1J4, Canada.
  • Fu H; CHUSJ Research Center, CHU Sainte-Justine, Montreal, QC H3T 1J4, Canada.
  • Ajeawung NF; CHUSJ Research Center, CHU Sainte-Justine, Montreal, QC H3T 1J4, Canada.
  • Camurri MV; CHUSJ Research Center, CHU Sainte-Justine, Montreal, QC H3T 1J4, Canada.
  • Li L; Rosalind & Morris Goodman Cancer Research Center and Department of Medicine, McGill University, Montreal, QC H3A 1A3, Canada.
  • Gardham A; North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Northwick Park Hospital, Watford Road, Harrow HA1 3UJ, UK.
  • Panis B; Department of Pediatrics, Zuyderland Medical Center, Heerlen and Sittard 6419, the Netherlands.
  • Almannai M; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
  • Sacoto MJG; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Baskin B; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Center, Leiden 2300RC, the Netherlands.
  • Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
  • Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
  • Cho MT; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Potjer TP; Department of Clinical Genetics, Leiden University Medical Center, Leiden 2300RC, the Netherlands.
  • Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden 2300RC, the Netherlands.
  • Parker MJ; Sheffield Clinical Genetics Service, OPD2, Northern General Hospital, Herries Road, Sheffield S5 7AU, UK.
  • Canham N; North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Northwick Park Hospital, Watford Road, Harrow HA1 3UJ, UK.
  • McKinnon M; Department of Medical Genetics, University of British Columbia, 4500 Oak Street, Vancouver, BC V6H 3N1, Canada.
  • Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
  • MacKenzie JJ; Kingston General Hospital, 76 Stuart Street, Armstrong 4, Kingston, ON K7L 2V7, Canada; Division of Clinical Genetics, Department of Pediatrics, McMaster University, Hamilton, ON L8S 4K1, Canada.
  • Roeder ER; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
  • Campeau PM; CHUSJ Research Center, CHU Sainte-Justine, Montreal, QC H3T 1J4, Canada; Department of Pediatrics, Sainte-Justine Hospital and University of Montreal, QC H3T 1J4, Canada. Electronic address: p.campeau@umontreal.ca.
  • Yang XJ; Rosalind & Morris Goodman Cancer Research Center and Department of Medicine, McGill University, Montreal, QC H3A 1A3, Canada; Department of Biochemistry, McGill University and McGill University Health Center, Montreal, QC H3A 1A3, Canada. Electronic address: xiang-jiao.yang@mcgill.ca.
Am J Hum Genet ; 100(1): 91-104, 2017 Jan 05.
Article em En | MEDLINE | ID: mdl-27939640
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Cromatina / Histonas / Proteínas Adaptadoras de Transdução de Sinal / Deficiência Intelectual / Mutação Limite: Adolescent / Animals / Child / Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Cromatina / Histonas / Proteínas Adaptadoras de Transdução de Sinal / Deficiência Intelectual / Mutação Limite: Adolescent / Animals / Child / Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article