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A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response.
Strong, Alanna; March, Michael E; Cardinale, Christopher J; Kim, Sophia E; Merves, Jamie; Whitworth, Hilary; Raffini, Leslie; Larosa, Christopher; Copelovitch, Lawrence; Hou, Cuiping; Slater, Diana; Vaccaro, Courtney; Watson, Deborah; Zackai, Elaine H; Billheimer, Jeffrey; Hakonarson, Hakon.
Afiliação
  • Strong A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • March ME; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Cardinale CJ; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Kim SE; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Merves J; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Whitworth H; Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Raffini L; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Larosa C; Division of Hematology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Copelovitch L; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Hou C; Division of Hematology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Slater D; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Vaccaro C; Division of Nephrology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Watson D; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Zackai EH; Division of Nephrology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Billheimer J; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Hakonarson H; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Am J Med Genet A ; 188(2): 463-472, 2022 02.
Article em En | MEDLINE | ID: mdl-34655156
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiência Intelectual Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiência Intelectual Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article