Bruce D. Gelb The Mindich Child Health and Development Institute Icahn School of Medicine at Mount Sinai Biography Publications Institution JoVE Articles Bruce D. Gelb has not added a biography. If you are Bruce D. Gelb and would like to personalize this page please email our Author Liaison for assistance. Publications Genetics of Congenital Heart Disease Current Opinion in Cardiology. Feb, 2016 | Pubmed ID: 26872209 Human Engineered Cardiac Tissues Created Using Induced Pluripotent Stem Cells Reveal Functional Characteristics of BRAF-Mediated Hypertrophic Cardiomyopathy PloS One. 2016 | Pubmed ID: 26784941 When Participants in Genomic Research Grow Up: Contact and Consent At the Age of Majority The Journal of Pediatrics. Jan, 2016 | Pubmed ID: 26477867 De Novo Mutations in Congenital Heart Disease with Neurodevelopmental and Other Congenital Anomalies Science (New York, N.Y.). Dec, 2015 | Pubmed ID: 26785492 Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN11-Associated Juvenile Myelomonocytic Leukemia Cell Reports. Oct, 2015 | Pubmed ID: 26456833 Cardiomyopathies in Noonan Syndrome and the Other RASopathies Progress in Pediatric Cardiology. Jul, 2015 | Pubmed ID: 26380542 Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome Human Mutation. Nov, 2015 | Pubmed ID: 26173643 History of Our Understanding of the Causes of Congenital Heart Disease Circulation. Cardiovascular Genetics. Jun, 2015 | Pubmed ID: 26082554 Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations Human Mutation. Aug, 2015 | Pubmed ID: 25952305 The Third International Meeting on Genetic Disorders in the RAS/MAPK Pathway: Towards a Therapeutic Approach American Journal of Medical Genetics. Part A. Aug, 2015 | Pubmed ID: 25900621 Rapidly Progressive Hypertrophic Cardiomyopathy in an Infant with Noonan Syndrome with Multiple Lentigines: Palliative Treatment with a Rapamycin Analog American Journal of Medical Genetics. Part A. Apr, 2015 | Pubmed ID: 25708222 MATR3 Disruption in Human and Mouse Associated with Bicuspid Aortic Valve, Aortic Coarctation and Patent Ductus Arteriosus Human Molecular Genetics. Apr, 2015 | Pubmed ID: 25574029 Basic Concepts and Potential Applications of Genetics and Genomics for Cardiovascular and Stroke Clinicians: a Scientific Statement from the American Heart Association Circulation. Cardiovascular Genetics. Feb, 2015 | Pubmed ID: 25561044 Pediatric Cardiac Retransplantation: Waitlist Mortality Stratified by Age and Era The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation. Apr, 2015 | Pubmed ID: 25016920 Atenolol Versus Losartan in Children and Young Adults with Marfan's Syndrome The New England Journal of Medicine. Nov, 2014 | Pubmed ID: 25405392 Practical Guidance on Informed Consent for Pediatric Participants in a Biorepository Mayo Clinic Proceedings. Nov, 2014 | Pubmed ID: 25264176 Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data Circulation Research. Oct, 2014 | Pubmed ID: 25205790 Identification and Purification of Human Induced Pluripotent Stem Cell-derived Atrial-like Cardiomyocytes Based on Sarcolipin Expression PloS One. 2014 | Pubmed ID: 25010565 Complex Genetics and the Etiology of Human Congenital Heart Disease Cold Spring Harbor Perspectives in Medicine. Jul, 2014 | Pubmed ID: 24985128 New Mechanistic and Therapeutic Targets for Pediatric Heart Failure: Report from a National Heart, Lung, and Blood Institute Working Group Circulation. Jul, 2014 | Pubmed ID: 24982119 A PTPN11 Allele Encoding a Catalytically Impaired SHP2 Protein in a Patient with a Noonan Syndrome Phenotype American Journal of Medical Genetics. Part A. Sep, 2014 | Pubmed ID: 24891296 RAF1 Mutations in Childhood-onset Dilated Cardiomyopathy Nature Genetics. Jun, 2014 | Pubmed ID: 24777450 Activating Mutations in RRAS Underlie a Phenotype Within the RASopathy Spectrum and Contribute to Leukaemogenesis Human Molecular Genetics. Aug, 2014 | Pubmed ID: 24705357 Concise Review: Drug Discovery in the Age of the Induced Pluripotent Stem Cell Stem Cells Translational Medicine. Apr, 2014 | Pubmed ID: 24493856 Frequency of Aortic Dilation in Noonan Syndrome The American Journal of Cardiology. Jan, 2014 | Pubmed ID: 24220280 Effect of Copy Number Variants on Outcomes for Infants with Single Ventricle Heart Defects Circulation. Cardiovascular Genetics. Oct, 2013 | Pubmed ID: 24021551 Recent Advances in Understanding the Genetics of Congenital Heart Defects Current Opinion in Pediatrics. Oct, 2013 | Pubmed ID: 23995429 MiST: a New Approach to Variant Detection in Deep Sequencing Datasets Nucleic Acids Research. Sep, 2013 | Pubmed ID: 23828039 Age-dependent Germline Mosaicism of the Most Common Noonan Syndrome Mutation Shows the Signature of Germline Selection American Journal of Human Genetics. Jun, 2013 | Pubmed ID: 23726368 De Novo Mutations in Histone-modifying Genes in Congenital Heart Disease Nature. May, 2013 | Pubmed ID: 23665959 Characteristics of Children and Young Adults with Marfan Syndrome and Aortic Root Dilation in a Randomized Trial Comparing Atenolol and Losartan Therapy American Heart Journal. May, 2013 | Pubmed ID: 23622922 Economic and Safety Implications of Introducing Fast Tracking in Congenital Heart Surgery Circulation. Cardiovascular Quality and Outcomes. Mar, 2013 | Pubmed ID: 23443672 Genetics of Congenital Heart Disease: the Glass Half Empty Circulation Research. Feb, 2013 | Pubmed ID: 23410880 Noonan Syndrome Lancet (London, England). Jan, 2013 | Pubmed ID: 23312968 Regulation of Embryonic and Induced Pluripotency by Aurora Kinase-p53 Signaling Cell Stem Cell. Aug, 2012 | Pubmed ID: 22862944 Char Syndrome, a Familial Form of Patent Ductus Arteriosus, with a New Finding: Hypoplasia [corrected] of the 3rd Finger Anadolu Kardiyoloji Dergisi : AKD = the Anatolian Journal of Cardiology. Sep, 2012 | Pubmed ID: 22728731 The Good SHP2 Association: a Porthole into the Genetics of Congenital Heart Disease Circulation. Cardiovascular Genetics. Jun, 2012 | Pubmed ID: 22715277 Counteracting Effects Operating on Src Homology 2 Domain-containing Protein-tyrosine Phosphatase 2 (SHP2) Function Drive Selection of the Recurrent Y62D and Y63C Substitutions in Noonan Syndrome The Journal of Biological Chemistry. Aug, 2012 | Pubmed ID: 22711529 Signaling to Cardiac Hypertrophy: Insights from Human and Mouse RASopathies Molecular Medicine (Cambridge, Mass.). 2012 | Pubmed ID: 22576369 Role of Copy Number Variants in Structural Birth Defects Pediatrics. Apr, 2012 | Pubmed ID: 22430448 A Restricted Spectrum of Mutations in the SMAD4 Tumor-suppressor Gene Underlies Myhre Syndrome American Journal of Human Genetics. Jan, 2012 | Pubmed ID: 22243968 Cathepsin K Deficiency Reduces Elastase Perfusion-induced Abdominal Aortic Aneurysms in Mice Arteriosclerosis, Thrombosis, and Vascular Biology. Jan, 2012 | Pubmed ID: 21817099 Induced Pluripotent Stem Cell-derived Cardiomyocytes As Models for Genetic Cardiovascular Disorders Current Opinion in Cardiology. May, 2011 | Pubmed ID: 21451408 Cyclosporine Attenuates Cardiomyocyte Hypertrophy Induced by RAF1 Mutants in Noonan and LEOPARD Syndromes Journal of Molecular and Cellular Cardiology. Jul, 2011 | Pubmed ID: 21440552 Noonan Syndrome and Clinically Related Disorders Best Practice & Research. Clinical Endocrinology & Metabolism. Feb, 2011 | Pubmed ID: 21396583 SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Structural Insights on Pathogenic Effects, and Genotype-phenotype Correlations Human Mutation. Jul, 2011 | Pubmed ID: 21387466 RAS Signaling Pathway Mutations and Hypertrophic Cardiomyopathy: Getting into and out of the Thick of It The Journal of Clinical Investigation. Mar, 2011 | Pubmed ID: 21339640 Disorders of Dysregulated Signal Traffic Through the RAS-MAPK Pathway: Phenotypic Spectrum and Molecular Mechanisms Annals of the New York Academy of Sciences. Dec, 2010 | Pubmed ID: 20958325 Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines Pediatrics. Oct, 2010 | Pubmed ID: 20876176 Protein Tyrosine Phosphatase PTPN14 is a Regulator of Lymphatic Function and Choanal Development in Humans American Journal of Human Genetics. Sep, 2010 | Pubmed ID: 20826270 Heterozygous Germline Mutations in the CBL Tumor-suppressor Gene Cause a Noonan Syndrome-like Phenotype American Journal of Human Genetics. Aug, 2010 | Pubmed ID: 20619386 Patient-specific Induced Pluripotent Stem-cell-derived Models of LEOPARD Syndrome Nature. Jun, 2010 | Pubmed ID: 20535210 Ash2l Interacts with Tbx1 and is Required During Early Embryogenesis Experimental Biology and Medicine (Maywood, N.J.). May, 2010 | Pubmed ID: 20463296 Jagged1 (JAG1) Mutations in Patients with Tetralogy of Fallot or Pulmonic Stenosis Human Mutation. May, 2010 | Pubmed ID: 20437614 Proceedings from the 2009 Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back American Journal of Medical Genetics. Part A. Jan, 2010 | Pubmed ID: 20014119 A Restricted Spectrum of NRAS Mutations Causes Noonan Syndrome Nature Genetics. Jan, 2010 | Pubmed ID: 19966803 Fgfr3 is a Transcriptional Target of Ap2delta and Ash2l-containing Histone Methyltransferase Complexes PloS One. 2009 | Pubmed ID: 20046871 The Phosphatase SHP2 Regulates the Spacing Effect for Long-term Memory Induction Cell. Oct, 2009 | Pubmed ID: 19804763 Mutation of SHOC2 Promotes Aberrant Protein N-myristoylation and Causes Noonan-like Syndrome with Loose Anagen Hair Nature Genetics. Sep, 2009 | Pubmed ID: 19684605 Germline BRAF Mutations in Noonan, LEOPARD, and Cardiofaciocutaneous Syndromes: Molecular Diversity and Associated Phenotypic Spectrum Human Mutation. Apr, 2009 | Pubmed ID: 19206169 Ablation of Cathepsin K Activity in the Young Mouse Causes Hypermineralization of Long Bone and Growth Plates Calcified Tissue International. Mar, 2009 | Pubmed ID: 19172215 Phosphatase-defective LEOPARD Syndrome Mutations in PTPN11 Gene Have Gain-of-function Effects During Drosophila Development Human Molecular Genetics. Jan, 2009 | Pubmed ID: 18849586 Deficiency and Inhibition of Cathepsin K Reduce Body Weight Gain and Increase Glucose Metabolism in Mice Arteriosclerosis, Thrombosis, and Vascular Biology. Dec, 2008 | Pubmed ID: 18818416 Transcription Factor Ap2delta Associates with Ash2l and ALR, a Trithorax Family Histone Methyltransferase, to Activate Hoxc8 Transcription Proceedings of the National Academy of Sciences of the United States of America. May, 2008 | Pubmed ID: 18495928 Diverse Driving Forces Underlie the Invariant Occurrence of the T42A, E139D, I282V and T468M SHP2 Amino Acid Substitutions Causing Noonan and LEOPARD Syndromes Human Molecular Genetics. Jul, 2008 | Pubmed ID: 18372317 Somatically Acquired JAK1 Mutations in Adult Acute Lymphoblastic Leukemia The Journal of Experimental Medicine. Apr, 2008 | Pubmed ID: 18362173 Multiple Thoracic Aortic Aneurysms After Mediastinitis in an Infant After Repair of Coarctation of the Aorta The Journal of Thoracic and Cardiovascular Surgery. Feb, 2008 | Pubmed ID: 18242288 Gain-of-function RAF1 Mutations Cause Noonan and LEOPARD Syndromes with Hypertrophic Cardiomyopathy Nature Genetics. Aug, 2007 | Pubmed ID: 17603483 Genetic Basis for Congenital Heart Defects: Current Knowledge: a Scientific Statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: Endorsed by the American Academy of Pediatrics Circulation. Jun, 2007 | Pubmed ID: 17519398 The Genetics of Congenital Heart Disease: a Review of Recent Developments Current Opinion in Cardiology. May, 2007 | Pubmed ID: 17413276 Novel Functional Interaction Between Na+/H+ Exchanger 1 and Tyrosine Phosphatase SHP-2 American Journal of Physiology. Regulatory, Integrative and Comparative Physiology. Jun, 2007 | Pubmed ID: 17289818 Gain-of-function SOS1 Mutations Cause a Distinctive Form of Noonan Syndrome Nature Genetics. Jan, 2007 | Pubmed ID: 17143282 Diversity, Parental Germline Origin, and Phenotypic Spectrum of De Novo HRAS Missense Changes in Costello Syndrome Human Mutation. Mar, 2007 | Pubmed ID: 17054105 Evaluation of Pulmonary Artery Banding in the Setting of Ventricular Septal Defects and Severely Elevated Pulmonary Vascular Resistance Congenital Heart Disease. Sep, 2006 | Pubmed ID: 18377533 Neonatal Marfan Syndrome : in Utero Presentation with Aortic and Pulmonary Artery Dilatation and Successful Repair of an Acute Flail Mitral Valve Leaflet in Infancy Pediatric Cardiology. Nov-Dec, 2006 | Pubmed ID: 17091324 Noonan Syndrome and Related Disorders: Dysregulated RAS-mitogen Activated Protein Kinase Signal Transduction Human Molecular Genetics. Oct, 2006 | Pubmed ID: 16987887 Marfan's Syndrome and Related Disorders--more Tightly Connected Than We Thought The New England Journal of Medicine. Aug, 2006 | Pubmed ID: 16929000 Germline Missense Mutations Affecting KRAS Isoform B Are Associated with a Severe Noonan Syndrome Phenotype American Journal of Human Genetics. Jul, 2006 | Pubmed ID: 16773572 Mice Lacking Cathepsin K Maintain Bone Remodeling but Develop Bone Fragility Despite High Bone Mass Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research. Jun, 2006 | Pubmed ID: 16753017 Transgenic Drosophila Models of Noonan Syndrome Causing PTPN11 Gain-of-function Mutations Human Molecular Genetics. Feb, 2006 | Pubmed ID: 16399795 Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease American Journal of Human Genetics. Feb, 2006 | Pubmed ID: 16358218 Parents and Clinicians Underestimate Distress and Depression in Children Who Had a Transplant Pediatric Transplantation. Oct, 2005 | Pubmed ID: 16176429 Noonan Syndrome and Related Disorders: Genetics and Pathogenesis Annual Review of Genomics and Human Genetics. 2005 | Pubmed ID: 16124853 Germ-line and Somatic PTPN11 Mutations in Human Disease European Journal of Medical Genetics. Apr-Jun, 2005 | Pubmed ID: 16053901 Neurofibromatosis-Noonan Syndrome: Molecular Evidence of the Concurrence of Both Disorders in a Patient American Journal of Medical Genetics. Part A. Jul, 2005 | Pubmed ID: 15948193 The Mutational Spectrum of PTPN11 in Juvenile Myelomonocytic Leukemia and Noonan Syndrome/myeloproliferative Disease Blood. Sep, 2005 | Pubmed ID: 15928039 Comparison of Parent and Child Reports of Emotional Trauma Symptoms in Pediatric Outpatient Settings Pediatrics. May, 2005 | Pubmed ID: 15867023 Paternal Germline Origin and Sex-ratio Distortion in Transmission of PTPN11 Mutations in Noonan Syndrome American Journal of Human Genetics. Sep, 2004 | Pubmed ID: 15248152 Genetic Basis of Congenital Heart Disease Current Opinion in Cardiology. Mar, 2004 | Pubmed ID: 15075735 Decreased Bone Turnover and Deterioration of Bone Structure in Two Cases of Pycnodysostosis The Journal of Clinical Endocrinology and Metabolism. Apr, 2004 | Pubmed ID: 15070910 Genetic Evidence for Lineage-related and Differentiation Stage-related Contribution of Somatic PTPN11 Mutations to Leukemogenesis in Childhood Acute Leukemia Blood. Jul, 2004 | Pubmed ID: 14982869 Noonan Syndrome-associated SHP2/PTPN11 Mutants Cause EGF-dependent Prolonged GAB1 Binding and Sustained ERK2/MAPK1 Activation Human Mutation. Mar, 2004 | Pubmed ID: 14974085 Male Infertility Due to Germ Cell Apoptosis in Mice Lacking the Thiamin Carrier, Tht1. A New Insight into the Critical Role of Thiamin in Spermatogenesis Developmental Biology. Feb, 2004 | Pubmed ID: 14738878 Transcription Factor Ap-2alpha is Necessary for Development of Embryonic Melanophores, Autonomic Neurons and Pharyngeal Skeleton in Zebrafish Developmental Biology. Jan, 2004 | Pubmed ID: 14697367 Thiamine Pyrophosphate: an Essential Cofactor in the Mammalian Metabolism of 3-methyl-branched Fatty Acids--implications for Thiamine Deficiencies? Advances in Experimental Medicine and Biology. 2003 | Pubmed ID: 14713245 A Trial of Vitamin A Therapy to Facilitate Ductal Closure in Premature Infants The Journal of Pediatrics. Nov, 2003 | Pubmed ID: 14615738 Somatic Mutations in PTPN11 in Juvenile Myelomonocytic Leukemia, Myelodysplastic Syndromes and Acute Myeloid Leukemia Nature Genetics. Jun, 2003 | Pubmed ID: 12717436 Expression of Tfap2d, the Gene Encoding the Transcription Factor Ap-2 Delta, During Mouse Embryogenesis Gene Expression Patterns : GEP. May, 2003 | Pubmed ID: 12711551 Targeted Disruption of Slc19a2, the Gene Encoding the High-affinity Thiamin Transporter Thtr-1, Causes Diabetes Mellitus, Sensorineural Deafness and Megaloblastosis in Mice Human Molecular Genetics. Nov, 2002 | Pubmed ID: 12393806 Mutation of TBCE Causes Hypoparathyroidism-retardation-dysmorphism and Autosomal Recessive Kenny-Caffey Syndrome Nature Genetics. Nov, 2002 | Pubmed ID: 12389028 Absence of PTPN11 Mutations in 28 Cases of Cardiofaciocutaneous (CFC) Syndrome Human Genetics. Oct, 2002 | Pubmed ID: 12384786 Collagenase Activity of Cathepsin K Depends on Complex Formation with Chondroitin Sulfate The Journal of Biological Chemistry. Aug, 2002 | Pubmed ID: 12039963 PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-phenotype Correlation, and Phenotypic Heterogeneity American Journal of Human Genetics. Jun, 2002 | Pubmed ID: 11992261 Construção de Engineered Definido cardíaca humana Tecidos para estudar os mecanismos da terapia celular cardíaca Timothy J. Cashman1, Rebecca Josowitz2, Bruce D. Gelb2, Ronald A. Li1,3, Nicole C. Dubois2, Kevin D. Costa1 1Cardiovascular Research Center, Icahn School of Medicine at Mount Sinai, 2The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, 3Stem Cell & Regenerative Medicine Consortium, LKS Faculty of Medicine, University of Hong Kong Bioengineering
Construção de Engineered Definido cardíaca humana Tecidos para estudar os mecanismos da terapia celular cardíaca Timothy J. Cashman1, Rebecca Josowitz2, Bruce D. Gelb2, Ronald A. Li1,3, Nicole C. Dubois2, Kevin D. Costa1 1Cardiovascular Research Center, Icahn School of Medicine at Mount Sinai, 2The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, 3Stem Cell & Regenerative Medicine Consortium, LKS Faculty of Medicine, University of Hong Kong Bioengineering