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Author Details

George A Porter
1992
60
28
PMIDPaper TitleJournal TitlePublished Year
37165897Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease.Circ Genom Precis Med2023
36779737Role of the Mitochondrial Permeability Transition in Bone Metabolism and Aging.2023
36701153Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease.JAMA Netw Open2023
36803080Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study.Circ Genom Precis Med2023
37292906Mitochondrial citrate carrier SLC25A1 is a dosage-dependent regulator of metabolic reprogramming and morphogenesis in the developing heart.2023
35130025Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity.Circ Genom Precis Med2022
35397206Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk.Am J Hum Genet2022
35395180Uncompensated mitochondrial oxidative stress underlies heart failure in an iPSC-derived model of congenital heart disease.Cell Stem Cell2022
35504873A reversible mitochondrial complex I thiol switch mediates hypoxic avoidance behavior in C. elegans.Nature Communications2022
35635445Transcriptional regulation of cyclophilin D by BMP/Smad signaling and its role in osteogenic differentiation.eLife2022
35549379Genetic Basis of Left Ventricular Noncompaction.Circulation. Genomic and precision medicine2022
36742212Mitochondrial ATP Synthase Tetramer Disassembly following Blood-Based or del Nido Cardioplegia during Neonatal Cardiac Surgery.2022
33557580Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency.Circ Res2021
34060035Native Gel Electrophoresis and Immunoblotting to Analyze Electron Transport Chain Complexes.Methods in Molecular Biology2021
33507880Neonatal hyperoxia inhibits proliferation and survival of atrial cardiomyocytes by suppressing fatty acid synthesis.JCI Insight2021
33054971<i>GATA6</i> mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm.Elife2020
32368696Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.JACC Basic Transl Sci2020
32281310A 235 Kb deletion at 17q21.33 encompassing the COL1A1, and two additional secondary copy number variants in an infant with type I osteogenesis imperfecta: A rare case report.Molecular genetics &amp; genomic medicine2020
32601476Genomic analyses implicate noncoding de novo variants in congenital heart disease.Nat Genet2020
33216750Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles.PLoS Genet2020
31110224Mitochondrial Oxidative Phosphorylation defect in the Heart of Subjects with Coronary Artery Disease.Sci Rep2019
30571965Dual role of inorganic polyphosphate in cardiac myocytes: The importance of polyP chain length for energy metabolism and mPTP activation.Archives of Biochemistry and Biophysics2019
29540484Metabolomics reveals critical adrenergic regulatory checkpoints in glycolysis and pentose-phosphate pathways in embryonic heart.Journal of Biological Chemistry2018
30558250Cyclophilin D, Somehow a Master Regulator of Mitochondrial Function.Biomolecules2018
30110571Potassium conservation is impaired in mice with reduced renal expression of Kir4.1.2018
29351346The Congenital Heart Disease Genetic Network Study: Cohort description.PLoS One2018
29345197Neonatal hyperoxia depletes pulmonary vein cardiomyocytes in adult mice via mitochondrial oxidation.American Journal of Physiology - Lung Cellular and Molecular Physiology2018
27590224The Mitochondrial Permeability Transition Pore and ATP Synthase.Handbook of Experimental Pharmacology2017
28605384Analyzing Supercomplexes of the Mitochondrial Electron Transport Chain with Native Electrophoresis, In-gel Assays, and Electroelution.Journal of Visualized Experiments2017
28991257Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.Nat Genet2017
28530678The complex genetics of hypoplastic left heart syndrome.Nat Genet2017
29101324Cyclophilin D regulates the dynamic assembly of mitochondrial ATP synthase into synthasomes.Scientific Reports2017
26868013Physiological roles of the mitochondrial permeability transition pore.Journal of Bioenergetics and Biomembranes2017
28141792Preventing permeability transition pore opening increases mitochondrial maturation, myocyte differentiation and cardiac function in the neonatal mouse heart.Pediatric Research2017
27913888Erratum to: The Mitochondrial Permeability Transition Pore and ATP Synthase.Handbook of Experimental Pharmacology2017
26883797Extraembryonic but not embryonic SUMO-specific protease 2 is required for heart development.Scientific Reports2016
26785492De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.Science2015
25956324Cell death disguised: The mitochondrial permeability transition pore as the c-subunit of the F(1)F(O) ATP synthase.Pharmacological Research2015
24748594SIRT3 deficiency exacerbates ischemia-reperfusion injury: implication for aged hearts.American Journal of Physiology - Heart and Circulatory Physiology2014
25278904Bcl-xL in neuroprotection and plasticity.Frontiers in Physiology2014
25427064Initiation of electron transport chain activity in the embryonic heart coincides with the activation of mitochondrial complex 1 and the formation of supercomplexes.PLoS ONE2014
24979777An uncoupling channel within the c-subunit ring of the F1FO ATP synthase is the mitochondrial permeability transition pore.Proceedings of the National Academy of Sciences of the United States of America2014
23410879The Congenital Heart Disease Genetic Network Study: rationale, design, and early results.Circ Res2013
23665959De novo mutations in histone-modifying genes in congenital heart disease.Nature2013
23065345Mitochondria as a drug target in ischemic heart disease and cardiomyopathy.Circ Res2012
21603067Bioenergetics, mitochondria, and cardiac myocyte differentiation.Progress in Pediatric Cardiology2011
21920313The permeability transition pore controls cardiac mitochondrial maturation and myocyte differentiation.Developmental Cell2011
20347716Regulation of mitochondrial fission by intracellular Ca2+ in rat ventricular myocytes.2010
18946363Kawasaki disease associated with reactive hemophagocytic lymphohistiocytosis.Pediatric Infectious Disease Journal2008
16469926Caspases 3 and 7: key mediators of mitochondrial events of apoptosis.Science2006
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