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HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease 期刊论文
, 2020, 卷号: 369, 期号: 6500
作者:  Cook S.A.;  Comrie W.A.;  Poli M.C.;  Similuk M.;  Oler A.J.;  Faruqi A.J.;  Kuhns D.B.;  Yang S.;  Vargas-Hernández A.;  Carisey A.F.;  Fournier B.;  Anderson D.E.;  Price S.;  Smelkinson M.;  Abou Chahla W.;  Forbes L.R.;  Mace E.M.;  Cao T.N.;  Coban-Akdemir Z.H.;  Jhangiani S.N.;  Muzny D.M.;  Gibbs R.A.;  Lupski J.R.;  Orange J.S.;  Cuvelier G.D.E.;  Al Hassani M.;  Al Kaabi N.;  Al Yafei Z.;  Jyonouchi S.;  Raje N.;  Caldwell J.W.;  Huang Y.;  Burkhardt J.K.;  Latour S.;  Chen B.;  ElGhazali G.;  Rao V.K.;  Chinn I.K.;  Lenardo M.J.
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actin  adenosine diphosphate ribosylation factor 1  ARF1 protein, human  cytokine  mammalian target of rapamycin complex 2  membrane protein  NCKAP1L protein, human  WASF1 protein, human  WASF2 protein, human  WASF3 protein, human  Wiskott Aldrich syndrome protein  biosynthesis  CD4+ T lymphocyte  cell proliferation  chemistry  genetics  human  immune deficiency  immunology  lymphoproliferative disease  metabolism  pedigree  phosphorylation  physiology  Actins  ADP-Ribosylation Factor 1  CD4-Positive T-Lymphocytes  Cell Proliferation  Cytokines  Humans  Immunologic Deficiency Syndromes  Lymphoproliferative Disorders  Mechanistic Target of Rapamycin Complex 2  Membrane Proteins  Pedigree  Phosphorylation  Wiskott-Aldrich Syndrome Protein Family