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Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
Poli, M Cecilia; Ebstein, Frédéric; Nicholas, Sarah K; de Guzman, Marietta M; Forbes, Lisa R; Chinn, Ivan K; Mace, Emily M; Vogel, Tiphanie P; Carisey, Alexandre F; Benavides, Felipe; Coban-Akdemir, Zeynep H; Gibbs, Richard A; Jhangiani, Shalini N; Muzny, Donna M; Carvalho, Claudia M B; Schady, Deborah A; Jain, Mahim; Rosenfeld, Jill A; Emrick, Lisa; Lewis, Richard A; Lee, Brendan; Zieba, Barbara A; Küry, Sébastien; Krüger, Elke; Lupski, James R; Bostwick, Bret L; Orange, Jordan S.
  • Poli MC; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Division of Pediatric Immunology, Allergy, and Rheumatology, Houston, TX 77030, USA; Instituto de Ciencias e Innovación en Medicina, Universidad del Desarrollo, Clínica Alemana de Santiago, RM 75
  • Ebstein F; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, 17475 Greifswald, Germany.
  • Nicholas SK; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Division of Pediatric Immunology, Allergy, and Rheumatology, Houston, TX 77030, USA.
  • de Guzman MM; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Division of Pediatric Immunology, Allergy, and Rheumatology, Houston, TX 77030, USA.
  • Forbes LR; Texas Children's Hospital, Division of Pediatric Immunology, Allergy, and Rheumatology, Houston, TX 77030, USA.
  • Chinn IK; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Division of Pediatric Immunology, Allergy, and Rheumatology, Houston, TX 77030, USA.
  • Mace EM; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Division of Pediatric Immunology, Allergy, and Rheumatology, Houston, TX 77030, USA.
  • Vogel TP; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Division of Pediatric Immunology, Allergy, and Rheumatology, Houston, TX 77030, USA.
  • Carisey AF; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Division of Pediatric Immunology, Allergy, and Rheumatology, Houston, TX 77030, USA.
  • Benavides F; Instituto de Ciencias e Innovación en Medicina, Universidad del Desarrollo, Clínica Alemana de Santiago, RM 7590943, Chile.
  • Coban-Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • 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.
  • Jhangiani SN; 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.
  • Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Schady DA; Texas Children's Hospital, Department of Pathology and Immunology, Houston, TX 77030, USA.
  • Jain M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Emrick L; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA.
  • Lewis RA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Ophthalmology, Baylor College of Medicine, Houston, TX 77030, USA.
  • Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Zieba BA; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, 17475 Greifswald, Germany.
  • Küry S; Centre Hospitalier Universitaire de Nantes Hôtel-Dieu, Institut de Biologie, Service de Génétique Médicale, Laboratoire de Génétique Moléculaire, 44093 Nantes Cedex 1, France.
  • Krüger E; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, 17475 Greifswald, Germany.
  • Lupski JR; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; 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; Texas Children's Hospital, Houston, TX 770
  • Bostwick BL; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Orange JS; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Division of Pediatric Immunology, Allergy, and Rheumatology, Houston, TX 77030, USA. Electronic address: orange@bcm.edu.
Am J Hum Genet ; 102(6): 1126-1142, 2018 06 07.
Article en En | MEDLINE | ID: mdl-29805043
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Chaperonas Moleculares / Predisposición Genética a la Enfermedad / Degradación de ARNm Mediada por Codón sin Sentido / Mutación Límite: Humans / Male / Newborn Idioma: En Año: 2018 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Chaperonas Moleculares / Predisposición Genética a la Enfermedad / Degradación de ARNm Mediada por Codón sin Sentido / Mutación Límite: Humans / Male / Newborn Idioma: En Año: 2018 Tipo del documento: Article