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COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Marom, Ronit; Burrage, Lindsay C; Venditti, Rossella; Clément, Aurélie; Blanco-Sánchez, Bernardo; Jain, Mahim; Scott, Daryl A; Rosenfeld, Jill A; Sutton, V Reid; Shinawi, Marwan; Mirzaa, Ghayda; DeVile, Catherine; Roberts, Rowenna; Calder, Alistair D; Allgrove, Jeremy; Grafe, Ingo; Lanza, Denise G; Li, Xiaohui; Joeng, Kyu Sang; Lee, Yi-Chien; Song, I-Wen; Sliepka, Joseph M; Batkovskyte, Dominyka; Washington, Megan; Dawson, Brian C; Jin, Zixue; Jiang, Ming-Ming; Chen, Shan; Chen, Yuqing; Tran, Alyssa A; Emrick, Lisa T; Murdock, David R; Hanchard, Neil A; Zapata, Gladys E; Mehta, Nitesh R; Weis, Mary Ann; Scott, Abbey A; Tremp, Brenna A; Phillips, Jennifer B; Wegner, Jeremy; Taylor-Miller, Tashunka; Gibbs, Richard A; Muzny, Donna M; Jhangiani, Shalini N; Hicks, John; Stottmann, Rolf W; Dickinson, Mary E; Seavitt, John R; Heaney, Jason D; Eyre, David R.
Afiliación
  • Marom R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Venditti R; Telethon Institute of Genetics and Medicine, Naples 80078, Italy.
  • Clément A; Institute of Neuroscience, University of Oregon, Eugene, OR 97403, USA.
  • Blanco-Sánchez B; Institute of Neuroscience, University of Oregon, Eugene, OR 97403, USA.
  • Jain M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Shinawi M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Mirzaa G; Center for Integrative Brain Research, Seattle Children's Research Institute, and Department of Pediatrics, University of Washington, and Brotman Baty Institute for Precision Medicine, Seattle, WA 98105, USA.
  • DeVile C; Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.
  • Roberts R; Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.
  • Calder AD; Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.
  • Allgrove J; Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.
  • Grafe I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Lanza DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Li X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Joeng KS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Lee YC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Song IW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Sliepka JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Batkovskyte D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Washington M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Dawson BC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Jin Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Jiang MM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Chen S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Chen Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Tran AA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Emrick LT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
  • Murdock DR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Hanchard NA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Laboratory for Translational Genomics, ARS/USDA Children's Nutrition Research Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Zapata GE; Laboratory for Translational Genomics, ARS/USDA Children's Nutrition Research Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Mehta NR; Laboratory for Translational Genomics, ARS/USDA Children's Nutrition Research Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Weis MA; Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, WA 98195, USA.
  • Scott AA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA.
  • Tremp BA; Institute of Neuroscience, University of Oregon, Eugene, OR 97403, USA.
  • Phillips JB; Institute of Neuroscience, University of Oregon, Eugene, OR 97403, USA.
  • Wegner J; Institute of Neuroscience, University of Oregon, Eugene, OR 97403, USA.
  • Taylor-Miller T; Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.
  • Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Hicks J; Texas Children's Hospital, Houston, TX 77030, USA; Department of Pathology, Texas Children's Hospital, and Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX 77030, USA.
  • Stottmann RW; Division of Human Genetics, and Division of Developmental Biology, and Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
  • Dickinson ME; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Seavitt JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Heaney JD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Eyre DR; Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, WA 98195, USA.
Am J Hum Genet ; 108(9): 1710-1724, 2021 09 02.
Article en En | MEDLINE | ID: mdl-34450031
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteoporosis / Huesos / Discapacidades del Desarrollo / Proteína Coat de Complejo I / Proteína Coatómero / Discapacidad Intelectual Tipo de estudio: Etiology_studies / Prognostic_studies Idioma: En Revista: Am J Hum Genet Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteoporosis / Huesos / Discapacidades del Desarrollo / Proteína Coat de Complejo I / Proteína Coatómero / Discapacidad Intelectual Tipo de estudio: Etiology_studies / Prognostic_studies Idioma: En Revista: Am J Hum Genet Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos