المؤلفون: Thomas J. Hund, Konstantinos Dean Boudoulas, Aaron D. Argall, Omer Cavus, Sara N. Koenig, Gbemiga G. Sofowora, M Wesley Milks, Mona El Refaey, Loren E. Wold, Sakima A. Smith, Elizabeth M. Jose, Holly C. Sucharski, Jordan L. Williams, Peter J. Mohler, Nathan T. Wright, Francesca Madiai, Emma K. Dudley, Karolina M. Zareba, Nathaniel P. Murphy, Elisa A. Bradley, Richard J. Gumina, Ernest L. Mazzaferri, Caullin B. R. Keith

المصدر: Circ Res

مصطلحات موضوعية: Adult, Male, Proband, Heterozygote, Heredity, Physiology, Induced Pluripotent Stem Cells, Population, Coronary Artery Disease, Biology, Compound heterozygosity, Risk Assessment, Severity of Illness Index, Article, symbols.namesake, Risk Factors, Exome Sequencing, Animals, Humans, Genetic Predisposition to Disease, Age of Onset, Allele, education, Genetic Association Studies, Exome sequencing, Genetics, education.field_of_study, Genetic Variation, Hep G2 Cells, Middle Aged, Scavenger Receptors, Class B, Null allele, SCARB1, Pedigree, Mice, Inbred C57BL, HEK293 Cells, Phenotype, Hepatocytes, Mendelian inheritance, symbols, Female, Cardiology and Cardiovascular Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b91991554a95244df231751cfe6b2b83
https://doi.org/10.1161/circresaha.120.318793

المؤلفون: Daniel Gratz, Mei Han, Omer Cavus, Michel Skaf, Hassan Hussein Musa, Morgan V. Price, Jordan L. Williams, Mona El Refaey, Sara N. Koenig, Paul M.L. Janssen, Ellen R. Lubbers, Matthew N. Rasband, Emma L. Friel, Peter J. Lancione, Georges Daoud, Thomas J. Hund, Rohan Gupta, Nathaniel P. Murphy, Xianyao Xu, Peter J. Mohler, Michael Wallace, Claire Yu-Mei Huang, Samantha L. Simmons, Nicole K. Hoeflinger

المصدر: J Biol Chem

مصطلحات موضوعية: 0301 basic medicine, Cell signaling, 030102 biochemistry & molecular biology, Signal transducing adaptor protein, Molecular Bases of Disease, macromolecular substances, Cell Biology, Biology, medicine.disease_cause, SPTAN1, Biochemistry, Axon initial segment, Cell biology, 03 medical and health sciences, 030104 developmental biology, Membrane biogenesis, Protein targeting, Knockout mouse, medicine, Spectrin, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02d620536748f034d9e576926bb54f64
https://doi.org/10.1074/jbc.ra119.007714

المؤلفون: Sara N. Koenig, Elisa A. Bradley, Silvia Faravelli, Federico Forneris, Jeff Tonniges, Luigi Scietti, Holly C. Sucharski, Francesca De Giorgi, Matthew C. Bernier, Peter J. Mohler, Jordan L. Williams, Muhannad Akel, Omer Cavus, Peter B. Baker, Trevor Dew, Francesca Madiai

المصدر: Transl Res

مصطلحات موضوعية: Adult, Male, Vascular smooth muscle, Phenotypic switching, Mutation, Missense, Biology, Fibril, Article, Muscle, Smooth, Vascular, Familial thoracic aortic aneurysm, chemistry.chemical_compound, Downregulation and upregulation, Physiology (medical), medicine, Humans, Aorta, Cells, Cultured, Aortic Aneurysm, Thoracic, Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase, Biochemistry (medical), Public Health, Environmental and Occupational Health, General Medicine, medicine.disease, Human morbidity, Cell biology, Pedigree, Collagen Type I, alpha 1 Chain, Hydroxylysine, Procollagen peptidase, Collagen Type III, chemistry, Amino Acid Substitution, Female, Collagen

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b885ca028635a416f97e3bcfc95a2321
https://europepmc.org/articles/PMC8671190/

المؤلفون: Omer Cavus, Jordan L. Williams, Aarthi Sabanayagam, Elisa A. Bradley

المصدر: Heart Failure Clinics. 14:569-577

مصطلحات موضوعية: Adult, Heart Defects, Congenital, medicine.medical_specialty, Heart disease, Cardiovascular Complication, Management of heart failure, Hemodynamics, 030204 cardiovascular system & hematology, Multidisciplinary team, Article, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, 030212 general & internal medicine, Intensive care medicine, Heart Failure, business.industry, Disease Management, General Medicine, medicine.disease, Heart failure, Presentation (obstetrics), Cardiology and Cardiovascular Medicine, business, Surgical interventions

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97b798f003f6d06ab9147ad678e45748
https://doi.org/10.1016/j.hfc.2018.06.005

المؤلفون: Emefah Loccoh, Paul M.L. Janssen, John C. Daugherty, Peter J. Mohler, Crystal F. Kline, Sara N. Koenig, Omer Cavus, Elisa A. Bradley, Benjamin D. Canan, Sakima A. Smith, Jordan L. Williams, Sara Adelman

المصدر: Life Sciences. 196:118-126

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Heart Ventricles, Ventricular Dysfunction, Right, Inflammation, 030204 cardiovascular system & hematology, Article, General Biochemistry, Genetics and Molecular Biology, Ventricular Dysfunction, Left, 03 medical and health sciences, 0302 clinical medicine, Right heart failure, Downregulation and upregulation, Internal medicine, medicine, Humans, Familial Primary Pulmonary Hypertension, RNA, Messenger, General Pharmacology, Toxicology and Pharmaceutics, Gene, Aged, Heart Failure, Messenger RNA, business.industry, General Medicine, Middle Aged, medicine.disease, Phenotype, Pulmonary hypertension, CTGF, 030104 developmental biology, Gene Expression Regulation, Ventricular Function, Right, Cardiology, Female, medicine.symptom, business, Biomarkers, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dd521faf054a0ef87799bdf5241cf1e
https://doi.org/10.1016/j.lfs.2018.01.021

المؤلفون: Steve Antwi-Boasiako, Elisa A. Bradley, Mei Han, Rebecca Shaheen, Sara N. Koenig, Jordan L. Williams, Dan Gratz, Thomas J. Hund, Mona El Refaey, Neill Schwieterman, Loren E. Wold, Xianyao Xu, Lindsay J. Young, Omer Cavus, Peter J. Mohler, Hassan Hussein Musa

المصدر: The Journal of Biological Chemistry

مصطلحات موضوعية: Male, 0301 basic medicine, Gene isoform, Cardiac function curve, giant ankyrin-G, CVD, cardiovascular disease, Nav1.5, arrhythmia, Biochemistry, Afterdepolarization, DAD, delayed afterdepolarizations, Mice, 03 medical and health sciences, cardiovascular disease, Animals, Phosphate Transport Proteins, Myocyte, Ankyrin, Myocytes, Cardiac, HFP, high-frequency pacing, DCM, dilated cardiomyopathy, VGSC, voltage-gated sodium channels, Molecular Biology, Mice, Knockout, Neurons, chemistry.chemical_classification, ankyrin-G, AIS, axonal initial segment, 030102 biochemistry & molecular biology, biology, animal model, Sodium channel, cytoskeleton, AnkG, ankyrin G, Heart, Cell Biology, myocytes, Phenotype, Cell biology, 030104 developmental biology, Animals, Newborn, chemistry, biology.protein, Female, EAD, early afterdepolarizations, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21520a4e9e8d66493ffc798b1183b57d
https://doi.org/10.1016/j.jbc.2021.100507

المؤلفون: Jordan L. Williams, Omer Cavus, Muhannad Akel, Elisa A. Bradley, Peter J. Mohler, Matthew Granger, Sara N. Koenig, Peter B. Baker, Francesca Madiai

المصدر: Journal of the American College of Cardiology. 75:2227

مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Cell, medicine.disease, Connective tissue disease, Ehlers danlos, Familial thoracic aortic aneurysm, medicine.anatomical_structure, Smooth muscle, Mutation (genetic algorithm), New mutation, medicine, CTD, Cardiology and Cardiovascular Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cb50c16f91908cdd3ecaf0a5e6c03f21
https://doi.org/10.1016/s0735-1097(20)32854-0

المؤلفون: G.L. Anderson, Jordan L. Williams, Russ Hille

المصدر: Journal of Biological Chemistry. 267:23674-23682

مصطلحات موضوعية: chemistry.chemical_classification, Alcaligenes faecalis, biology, Cytochrome, Stereochemistry, Cell Biology, Electron acceptor, biology.organism_classification, Photochemistry, Dithionite, Biochemistry, Cofactor, chemistry.chemical_compound, chemistry, biology.protein, Azurin, Pterin, Molecular Biology, Arsenite

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5ff2716b272f888df71eaaa3ee4b0bcf
https://doi.org/10.1016/s0021-9258(18)35891-5