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HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease.
Cook, Sarah A; Comrie, William A; Poli, M Cecilia; Similuk, Morgan; Oler, Andrew J; Faruqi, Aiman J; Kuhns, Douglas B; Yang, Sheng; Vargas-Hernández, Alexander; Carisey, Alexandre F; Fournier, Benjamin; Anderson, D Eric; Price, Susan; Smelkinson, Margery; Abou Chahla, Wadih; Forbes, Lisa R; Mace, Emily M; Cao, Tram N; Coban-Akdemir, Zeynep H; Jhangiani, Shalini N; Muzny, Donna M; Gibbs, Richard A; Lupski, James R; Orange, Jordan S; Cuvelier, Geoffrey D E; Al Hassani, Moza; Al Kaabi, Nawal; Al Yafei, Zain; Jyonouchi, Soma; Raje, Nikita; Caldwell, Jason W; Huang, Yanping; Burkhardt, Janis K; Latour, Sylvain; Chen, Baoyu; ElGhazali, Gehad; Rao, V Koneti; Chinn, Ivan K; Lenardo, Michael J.
Affiliation
  • Cook SA; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
  • Comrie WA; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
  • Poli MC; Neomics Pharmaceuticals, LLC, Gaithersburg, MD, USA.
  • Similuk M; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
  • Oler AJ; Section of Pediatric Immunology, Allergy, and Retrovirology, Texas Children's Hospital, Houston, TX, USA.
  • Faruqi AJ; Program of Immunogenetics and Translational Immunology, Instituto de Ciencias e Innovación en Medicina, Facultad de Medicina, Clínica Alemana-Universidad del Desarrollo, Santiago, Chile.
  • Kuhns DB; Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA.
  • Yang S; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology, NIAID, NIH, Bethesda, MD, USA.
  • Vargas-Hernández A; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
  • Carisey AF; Neutrophil Monitoring Laboratory, Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, MD, USA.
  • Fournier B; Roy J. Carver Department of Biochemistry, Biophysics and Molecular Biology, Iowa State University, Ames, IA, USA.
  • Anderson DE; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
  • Price S; Section of Pediatric Immunology, Allergy, and Retrovirology, Texas Children's Hospital, Houston, TX, USA.
  • Smelkinson M; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
  • Abou Chahla W; Section of Pediatric Immunology, Allergy, and Retrovirology, Texas Children's Hospital, Houston, TX, USA.
  • Forbes LR; Laboratory of Lymphocyte Activation and Susceptibility to EBV, INSERM UMR 1163, Paris, France.
  • Mace EM; University Paris Descartes Sorbonne Paris Cité, Institut des Maladies Génétiques-IMAGINE, Paris, France.
  • Cao TN; Advanced Mass Spectrometry Facility, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), NIH, Bethesda, MD, USA.
  • Coban-Akdemir ZH; Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD, USA.
  • Jhangiani SN; Biological Imaging Section, Research Technologies Branch, NIAID, NIH, Bethesda, MD, USA.
  • Muzny DM; Department of Pediatric Hematology, Jeanne de Flandre Hospital, Centre Hospitalier Universitaire (CHU), Lille, France.
  • Gibbs RA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
  • Lupski JR; Section of Pediatric Immunology, Allergy, and Retrovirology, Texas Children's Hospital, Houston, TX, USA.
  • Orange JS; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
  • Cuvelier GDE; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
  • Al Hassani M; Section of Pediatric Immunology, Allergy, and Retrovirology, Texas Children's Hospital, Houston, TX, USA.
  • Al Kaabi N; Baylor-Hopkins Center for Mendelian Genomics, Houston, TX, USA.
  • Al Yafei Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Jyonouchi S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Raje N; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Caldwell JW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Huang Y; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Burkhardt JK; Baylor-Hopkins Center for Mendelian Genomics, Houston, TX, USA.
  • Latour S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Chen B; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • ElGhazali G; Baylor-Hopkins Center for Mendelian Genomics, Houston, TX, USA.
  • Rao VK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Chinn IK; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Lenardo MJ; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
Science ; 369(6500): 202-207, 2020 07 10.
Article in En | MEDLINE | ID: mdl-32647003
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cytokines / Actins / Mechanistic Target of Rapamycin Complex 2 / Immunologic Deficiency Syndromes / Lymphoproliferative Disorders / Membrane Proteins Limits: Humans Language: En Journal: Science Year: 2020 Document type: Article Affiliation country: United States Country of publication: United States
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cytokines / Actins / Mechanistic Target of Rapamycin Complex 2 / Immunologic Deficiency Syndromes / Lymphoproliferative Disorders / Membrane Proteins Limits: Humans Language: En Journal: Science Year: 2020 Document type: Article Affiliation country: United States Country of publication: United States