Nonsense Variant PRDM16-Q187X Causes Impaired Myocardial Development and TGF-β Signaling Resulting in Noncompaction Cardiomyopathy in Humans and Mice.

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Title: Nonsense Variant PRDM16-Q187X Causes Impaired Myocardial Development and TGF-β Signaling Resulting in Noncompaction Cardiomyopathy in Humans and Mice.
Authors: Sun B; Department of Pediatrics, Division of Cardiology (B.S., R.J.K., S.A., A.P.L.), Duke University School of Medicine, Durham, NC., Rouzbehani OMT; Department of Nutrition and Integrative Physiology, Program in Molecular Medicine (O.M.T.R., R.G., A.N.F., M.A.G., M.A.H., E.C., S.B.), University of Utah, Salt Lake City., Kramer RJ; Department of Pediatrics, Division of Cardiology (B.S., R.J.K., S.A., A.P.L.), Duke University School of Medicine, Durham, NC., Ghosh R; Department of Nutrition and Integrative Physiology, Program in Molecular Medicine (O.M.T.R., R.G., A.N.F., M.A.G., M.A.H., E.C., S.B.), University of Utah, Salt Lake City., Perelli RM; Department of Cell Biology (R.M.P., A.P.L.), Duke University School of Medicine, Durham, NC., Atkins S; Department of Pediatrics, Division of Cardiology (B.S., R.J.K., S.A., A.P.L.), Duke University School of Medicine, Durham, NC., Fatahian AN; Department of Nutrition and Integrative Physiology, Program in Molecular Medicine (O.M.T.R., R.G., A.N.F., M.A.G., M.A.H., E.C., S.B.), University of Utah, Salt Lake City., Davis K; Nora Eccles Harrison Cardiovascular Research and Training Institute (K.D., M.W.S., J.S.W., S.F.), University of Utah, Salt Lake City., Szulik MW; Nora Eccles Harrison Cardiovascular Research and Training Institute (K.D., M.W.S., J.S.W., S.F.), University of Utah, Salt Lake City., Goodman MA; Department of Nutrition and Integrative Physiology, Program in Molecular Medicine (O.M.T.R., R.G., A.N.F., M.A.G., M.A.H., E.C., S.B.), University of Utah, Salt Lake City., Hathaway MA; Department of Nutrition and Integrative Physiology, Program in Molecular Medicine (O.M.T.R., R.G., A.N.F., M.A.G., M.A.H., E.C., S.B.), University of Utah, Salt Lake City., Chi E; Department of Nutrition and Integrative Physiology, Program in Molecular Medicine (O.M.T.R., R.G., A.N.F., M.A.G., M.A.H., E.C., S.B.), University of Utah, Salt Lake City., Word TA; Department of Molecular Physiology and Biophysics (T.A.W., X.H.T.W.), Baylor College of Medicine, Houston, TX., Tunuguntla H; Department of Medicine and Pediatrics, Section of Cardiology (H.T., S.W.D., X.H.T.W.), Baylor College of Medicine, Houston, TX., Denfield SW; Department of Medicine and Pediatrics, Section of Cardiology (H.T., S.W.D., X.H.T.W.), Baylor College of Medicine, Houston, TX., Wehrens XHT; Department of Molecular Physiology and Biophysics (T.A.W., X.H.T.W.), Baylor College of Medicine, Houston, TX.; Department of Medicine and Pediatrics, Section of Cardiology (H.T., S.W.D., X.H.T.W.), Baylor College of Medicine, Houston, TX.; Department of Neuroscience, Cardiovascular Research Institute, and Center for Space Medicine (X.H.T.W.), Baylor College of Medicine, Houston, TX., Whitehead KJ; Division of Cardiovascular Medicine, Department of Internal Medicine (K.J.W.), University of Utah School of Medicine, Salt Lake City., Abdelnasser HY; Department of Pharmacological and Pharmaceutical Sciences, College of Pharmacy, University of Houston, TX (H.Y.A., M.W.)., Warren JS; Nora Eccles Harrison Cardiovascular Research and Training Institute (K.D., M.W.S., J.S.W., S.F.), University of Utah, Salt Lake City.; Division of Cardiovascular Medicine (J.S.W.), University of Utah School of Medicine, Salt Lake City., Wu M; Department of Pharmacological and Pharmaceutical Sciences, College of Pharmacy, University of Houston, TX (H.Y.A., M.W.)., Franklin S; Nora Eccles Harrison Cardiovascular Research and Training Institute (K.D., M.W.S., J.S.W., S.F.), University of Utah, Salt Lake City., Boudina S; Department of Nutrition and Integrative Physiology, Program in Molecular Medicine (O.M.T.R., R.G., A.N.F., M.A.G., M.A.H., E.C., S.B.), University of Utah, Salt Lake City., Landstrom AP; Department of Pediatrics, Division of Cardiology (B.S., R.J.K., S.A., A.P.L.), Duke University School of Medicine, Durham, NC.; Department of Cell Biology (R.M.P., A.P.L.), Duke University School of Medicine, Durham, NC.
Source: Circulation. Heart failure [Circ Heart Fail] 2023 Dec; Vol. 16 (12), pp. e010351. Date of Electronic Publication: 2023 Dec 19.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101479941 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1941-3297 (Electronic) Linking ISSN: 19413289 NLM ISO Abbreviation: Circ Heart Fail Subsets: MEDLINE
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  Data: Nonsense Variant PRDM16-Q187X Causes Impaired Myocardial Development and TGF-β Signaling Resulting in Noncompaction Cardiomyopathy in Humans and Mice.
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  Data: <searchLink fieldCode="AU" term="%22Sun+B%22">Sun B</searchLink>; Department of Pediatrics, Division of Cardiology (B.S., R.J.K., S.A., A.P.L.), Duke University School of Medicine, Durham, NC.<br /><searchLink fieldCode="AU" term="%22Rouzbehani+OMT%22">Rouzbehani OMT</searchLink>; Department of Nutrition and Integrative Physiology, Program in Molecular Medicine (O.M.T.R., R.G., A.N.F., M.A.G., M.A.H., E.C., S.B.), University of Utah, Salt Lake City.<br /><searchLink fieldCode="AU" term="%22Kramer+RJ%22">Kramer RJ</searchLink>; Department of Pediatrics, Division of Cardiology (B.S., R.J.K., S.A., A.P.L.), Duke University School of Medicine, Durham, NC.<br /><searchLink fieldCode="AU" term="%22Ghosh+R%22">Ghosh R</searchLink>; Department of Nutrition and Integrative Physiology, Program in Molecular Medicine (O.M.T.R., R.G., A.N.F., M.A.G., M.A.H., E.C., S.B.), University of Utah, Salt Lake City.<br /><searchLink fieldCode="AU" term="%22Perelli+RM%22">Perelli RM</searchLink>; Department of Cell Biology (R.M.P., A.P.L.), Duke University School of Medicine, Durham, NC.<br /><searchLink fieldCode="AU" term="%22Atkins+S%22">Atkins S</searchLink>; Department of Pediatrics, Division of Cardiology (B.S., R.J.K., S.A., A.P.L.), Duke University School of Medicine, Durham, NC.<br /><searchLink fieldCode="AU" term="%22Fatahian+AN%22">Fatahian AN</searchLink>; Department of Nutrition and Integrative Physiology, Program in Molecular Medicine (O.M.T.R., R.G., A.N.F., M.A.G., M.A.H., E.C., S.B.), University of Utah, Salt Lake City.<br /><searchLink fieldCode="AU" term="%22Davis+K%22">Davis K</searchLink>; Nora Eccles Harrison Cardiovascular Research and Training Institute (K.D., M.W.S., J.S.W., S.F.), University of Utah, Salt Lake City.<br /><searchLink fieldCode="AU" term="%22Szulik+MW%22">Szulik MW</searchLink>; Nora Eccles Harrison Cardiovascular Research and Training Institute (K.D., M.W.S., J.S.W., S.F.), University of Utah, Salt Lake City.<br /><searchLink fieldCode="AU" term="%22Goodman+MA%22">Goodman MA</searchLink>; Department of Nutrition and Integrative Physiology, Program in Molecular Medicine (O.M.T.R., R.G., A.N.F., M.A.G., M.A.H., E.C., S.B.), University of Utah, Salt Lake City.<br /><searchLink fieldCode="AU" term="%22Hathaway+MA%22">Hathaway MA</searchLink>; 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Department of Molecular Physiology and Biophysics (T.A.W., X.H.T.W.), Baylor College of Medicine, Houston, TX.; Department of Medicine and Pediatrics, Section of Cardiology (H.T., S.W.D., X.H.T.W.), Baylor College of Medicine, Houston, TX.; Department of Neuroscience, Cardiovascular Research Institute, and Center for Space Medicine (X.H.T.W.), Baylor College of Medicine, Houston, TX.<br /><searchLink fieldCode="AU" term="%22Whitehead+KJ%22">Whitehead KJ</searchLink>; Division of Cardiovascular Medicine, Department of Internal Medicine (K.J.W.), University of Utah School of Medicine, Salt Lake City.<br /><searchLink fieldCode="AU" term="%22Abdelnasser+HY%22">Abdelnasser HY</searchLink>; Department of Pharmacological and Pharmaceutical Sciences, College of Pharmacy, University of Houston, TX (H.Y.A., M.W.).<br /><searchLink fieldCode="AU" term="%22Warren+JS%22">Warren JS</searchLink>; Nora Eccles Harrison Cardiovascular Research and Training Institute (K.D., M.W.S., J.S.W., S.F.), University of Utah, Salt Lake City.; Division of Cardiovascular Medicine (J.S.W.), University of Utah School of Medicine, Salt Lake City.<br /><searchLink fieldCode="AU" term="%22Wu+M%22">Wu M</searchLink>; Department of Pharmacological and Pharmaceutical Sciences, College of Pharmacy, University of Houston, TX (H.Y.A., M.W.).<br /><searchLink fieldCode="AU" term="%22Franklin+S%22">Franklin S</searchLink>; Nora Eccles Harrison Cardiovascular Research and Training Institute (K.D., M.W.S., J.S.W., S.F.), University of Utah, Salt Lake City.<br /><searchLink fieldCode="AU" term="%22Boudina+S%22">Boudina S</searchLink>; Department of Nutrition and Integrative Physiology, Program in Molecular Medicine (O.M.T.R., R.G., A.N.F., M.A.G., M.A.H., E.C., S.B.), University of Utah, Salt Lake City.<br /><searchLink fieldCode="AU" term="%22Landstrom+AP%22">Landstrom AP</searchLink>; Department of Pediatrics, Division of Cardiology (B.S., R.J.K., S.A., A.P.L.), Duke University School of Medicine, Durham, NC.; Department of Cell Biology (R.M.P., A.P.L.), Duke University School of Medicine, Durham, NC.
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