Bruce Gelb

Summary

Affiliation: Mount Sinai School of Medicine
Country: USA

Publications

  1. pmc Fgfr3 is a transcriptional target of Ap2delta and Ash2l-containing histone methyltransferase complexes
    Cheryl C Tan
    Department of Biological Chemistry, University of California Los Angeles School of Medicine, Los Angeles, California, USA
    PLoS ONE 4:e8535. 2009
  2. pmc The Congenital Heart Disease Genetic Network Study: rationale, design, and early results
    Bruce Gelb
    Icahn School of Medicine at Mount Sinai, One Gustave Levy Place, Box 1040, New York, NY 10029, USA
    Circ Res 112:698-706. 2013
  3. doi request reprint Role of copy number variants in structural birth defects
    Abigail E Southard
    Mount Sinai School of Medicine, New York, NY 10029, USA
    Pediatrics 129:755-63. 2012
  4. ncbi request reprint Genetic basis of congenital heart disease
    Bruce D Gelb
    Departments of Pediatrics and Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
    Curr Opin Cardiol 19:110-5. 2004
  5. ncbi request reprint Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction
    Bruce D Gelb
    Department of Pediatrics and Human Genetics, Mount Sinai School of Medicine, One Gustave Levy Place, Box 1040, New York, NY 10029, USA
    Hum Mol Genet 15:R220-6. 2006
  6. pmc RAS signaling pathway mutations and hypertrophic cardiomyopathy: getting into and out of the thick of it
    Bruce D Gelb
    Child Health and Development Institute, Mount Sinai School of Medicine, New York, New York 10029, USA
    J Clin Invest 121:844-7. 2011
  7. ncbi request reprint Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations
    Kimihiko Oishi
    Departments of Pediatrics and Human Genetics, Mount Sinai School of Medicine, One Gustave L Levy Place, Box 1498, New York, NY 10029, USA
    Hum Mol Genet 15:543-53. 2006
  8. ncbi request reprint Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
    Bhaswati Pandit
    Center for Molecular Cardiology, Department of Pediatrics and Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, New York 10029, USA
    Nat Genet 39:1007-12. 2007
  9. pmc Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development
    Kimihiko Oishi
    Department of Pediatrics and the Center for Molecular Cardiology, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, USA
    Hum Mol Genet 18:193-201. 2009
  10. ncbi request reprint Comparison of parent and child reports of emotional trauma symptoms in pediatric outpatient settings
    Eyal Shemesh
    Department of Psychiatry, Mount Sinai Medical Center, 1 Gustave L Levy Pl, Box 1230, New York, NY 10029, USA
    Pediatrics 115:e582-9. 2005

Collaborators

Detail Information

Publications37

  1. pmc Fgfr3 is a transcriptional target of Ap2delta and Ash2l-containing histone methyltransferase complexes
    Cheryl C Tan
    Department of Biological Chemistry, University of California Los Angeles School of Medicine, Los Angeles, California, USA
    PLoS ONE 4:e8535. 2009
    ..Thus, we have identified several candidate targets of complexes containing Ap2delta and Ash2l that can be used to further elucidate their roles during development and showed that Fgfr3 is a novel direct target of these complexes...
  2. pmc The Congenital Heart Disease Genetic Network Study: rationale, design, and early results
    Bruce Gelb
    Icahn School of Medicine at Mount Sinai, One Gustave Levy Place, Box 1040, New York, NY 10029, USA
    Circ Res 112:698-706. 2013
    ..The scientific community's use of Pediatric Cardiac Genomics Consortium resources is welcome...
  3. doi request reprint Role of copy number variants in structural birth defects
    Abigail E Southard
    Mount Sinai School of Medicine, New York, NY 10029, USA
    Pediatrics 129:755-63. 2012
    ..The objective of this study was to conduct a nonsystematic literature review to document the role of CNVs as they relate to isolated structural anomalies of the craniofacial, respiratory, renal, and cardiac systems...
  4. ncbi request reprint Genetic basis of congenital heart disease
    Bruce D Gelb
    Departments of Pediatrics and Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
    Curr Opin Cardiol 19:110-5. 2004
    ..Recent progress, accelerated through the Human Genome Project, has resulted in the rapid identification of disease genes causing congenital heart defects...
  5. ncbi request reprint Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction
    Bruce D Gelb
    Department of Pediatrics and Human Genetics, Mount Sinai School of Medicine, One Gustave Levy Place, Box 1040, New York, NY 10029, USA
    Hum Mol Genet 15:R220-6. 2006
    ..As these genes also encode proteins relevant for RAS-MAPK signal transduction, all of the syndromes discussed in this article now can be understood to constitute a class of disorders caused by dysregulated RAS-MAPK signaling...
  6. pmc RAS signaling pathway mutations and hypertrophic cardiomyopathy: getting into and out of the thick of it
    Bruce D Gelb
    Child Health and Development Institute, Mount Sinai School of Medicine, New York, New York 10029, USA
    J Clin Invest 121:844-7. 2011
    ....
  7. ncbi request reprint Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations
    Kimihiko Oishi
    Departments of Pediatrics and Human Genetics, Mount Sinai School of Medicine, One Gustave L Levy Place, Box 1498, New York, NY 10029, USA
    Hum Mol Genet 15:543-53. 2006
    ..In addition, these fly models can be used for sensitized screens to identify novel interacting genes as well as for high-throughput screening of therapeutic compounds for NS and PTPN11-related cancers...
  8. ncbi request reprint Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
    Bhaswati Pandit
    Center for Molecular Cardiology, Department of Pediatrics and Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, New York 10029, USA
    Nat Genet 39:1007-12. 2007
    ..Our findings further implicate increased RAS signaling in pathological cardiomyocyte hypertrophy...
  9. pmc Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development
    Kimihiko Oishi
    Department of Pediatrics and the Center for Molecular Cardiology, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, USA
    Hum Mol Genet 18:193-201. 2009
    ....
  10. ncbi request reprint Comparison of parent and child reports of emotional trauma symptoms in pediatric outpatient settings
    Eyal Shemesh
    Department of Psychiatry, Mount Sinai Medical Center, 1 Gustave L Levy Pl, Box 1230, New York, NY 10029, USA
    Pediatrics 115:e582-9. 2005
    ..This study evaluated discrepancies in parental versus child reports of the child's emotional trauma symptoms in pediatric medical care settings...
  11. ncbi request reprint Parents and clinicians underestimate distress and depression in children who had a transplant
    Eyal Shemesh
    Department of Psychiatry, Mount Sinai Medical Center, New York, NY 10029, USA
    Pediatr Transplant 9:673-9. 2005
    ..The child's report of his or her emotional symptoms should be directly sought post-transplant...
  12. pmc PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity
    Marco Tartaglia
    Department of Pediatrics, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, USA
    Am J Hum Genet 70:1555-63. 2002
    ..A PTPN11 mutation was identified in a family inheriting Noonan-like/multiple giant-cell lesion syndrome, extending the phenotypic range of disease associated with this gene...
  13. ncbi request reprint Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation
    Alessandra Fragale
    Department of Pediatrics, Mount Sinai School of Medicine, New York, New York, USA
    Hum Mutat 23:267-77. 2004
    ....
  14. pmc Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease
    Marco Tartaglia
    Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Rome, Italy
    Am J Hum Genet 78:279-90. 2006
    ..Furthermore, we show that the recurrent LS-causing Y279C and T468M amino acid substitutions engender loss of SHP-2 catalytic activity, identifying a previously unrecognized behavior for this class of missense PTPN11 mutations...
  15. ncbi request reprint Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia
    Marco Tartaglia
    Department of Pediatrics, Mount Sinai School of Medicine, New York, New York, USA
    Nat Genet 34:148-50. 2003
    ..Functional analyses documented that the two most common mutations in PTPN11 associated with JMML caused a gain of function...
  16. pmc Transcription factor Ap2delta associates with Ash2l and ALR, a trithorax family histone methyltransferase, to activate Hoxc8 transcription
    Cheryl C Tan
    Departments of Pediatrics, Center for Molecular Cardiology, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, USA
    Proc Natl Acad Sci U S A 105:7472-7. 2008
    ..This role provides a mechanism through which these transcription factors can have diverse effects despite nearly identical DNA-binding motifs...
  17. ncbi request reprint The genetics of congenital heart disease: a review of recent developments
    Constance G Weismann
    Pediatrics and Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA
    Curr Opin Cardiol 22:200-6. 2007
    ..This review focuses on the progress made during the past year...
  18. pmc The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease
    Christian P Kratz
    University of California, Room HSE 302 Box 0519, San Francisco, CA 94143, USA
    Blood 106:2183-5. 2005
    ..This supports the need to characterize the spectrum of hematologic abnormalities in individuals with NS and to better define the impact of the PTPN11 lesion on the disease course in patients with NS/MPD and JMML...
  19. pmc Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome
    Marco Tartaglia
    Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Rome, Italy
    Am J Hum Genet 75:492-7. 2004
    ....
  20. ncbi request reprint Noonan syndrome and related disorders: genetics and pathogenesis
    Marco Tartaglia
    Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, 299 00161 Rome, Italy
    Annu Rev Genomics Hum Genet 6:45-68. 2005
    ..A mouse model of PTPN11-related Noonan syndrome was recently generated, providing a reagent for studying disease pathogenesis in greater depth as well as experimenting with novel therapeutic strategies...
  21. ncbi request reprint Germ-line and somatic PTPN11 mutations in human disease
    Marco Tartaglia
    Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Viale Regina Elena, 299, 00161 Rome, Italy
    Eur J Med Genet 48:81-96. 2005
    ..This review focuses on the role of SHP-2 in signal transduction, development and hematopoiesis, as well as on the consequences of SHP-2 gain-of-function...
  22. ncbi request reprint Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome
    Giuseppe Zampino
    Istituto di Clinica Pediatrica, Universita Cattolica del Sacro Cuore, Rome, Italy
    Hum Mutat 28:265-72. 2007
    ..We noted an advanced age at conception in unaffected fathers transmitting the mutation...
  23. ncbi request reprint Expression of Tfap2d, the gene encoding the transcription factor Ap-2 delta, during mouse embryogenesis
    Feng Zhao
    Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Gene Expr Patterns 3:213-7. 2003
    ..Based on Tfap2d's unique expression pattern and functional features, we believe that Ap-2 delta plays a role during mammalian development that is non-overlapping with those of the other Ap-2 transcription factors...
  24. pmc Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome
    Xonia Carvajal-Vergara
    Department of Gene and Cell Medicine, Black Family Stem Cell Institute, Mount Sinai School of Medicine, New York, New York 10029, USA
    Nature 465:808-12. 2010
    ..These features correlate with a potential hypertrophic state. We also provide molecular insights into signalling pathways that may promote the disease phenotype...
  25. ncbi request reprint Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient
    Debora R Bertola
    Genetics Clinic Unit, Instituto da Criança do Hospital das Clínicas, University of Sao Paulo, Sao Paulo, Brazil
    Am J Med Genet A 136:242-5. 2005
    ..She inherited the PTPN11 mutation from her father and had a de novo NF1 mutation. This is the first report of molecular concurrence of both disorders in the same patient...
  26. ncbi request reprint Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome
    Andra Ion
    Department of Medical Genetics, St George s Medical School, Cranmer Terrace, London SW17ORE, UK
    Hum Genet 111:421-7. 2002
    ..The results showed no abnormalities in the coding region of the PTPN11 gene in any CFC patient, nor any evidence of major deletions within the gene suggesting that mutations in other gene(s) are responsible for this syndrome...
  27. pmc Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes
    Simone Martinelli
    Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Viale Regina Elena 299, 00161 Rome, Italy
    Hum Mol Genet 17:2018-29. 2008
    ....
  28. ncbi request reprint Novel functional interaction between Na+/H+ exchanger 1 and tyrosine phosphatase SHP-2
    Jin Xue
    Department of Pediatrics, University of California San Diego, San Diego, California 92093 0735, USA
    Am J Physiol Regul Integr Comp Physiol 292:R2406-16. 2007
    ..Together, our findings demonstrate that SHP-2 not only is physically associated with NHE1 but also modulates NHE1 functions such as pHi regulation, cell proliferation, and cell death under hypoxia...
  29. ncbi request reprint Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia
    Marco Tartaglia
    Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Viale Regina Elena, 299 00161 Rome, Italy
    Blood 104:307-13. 2004
    ..Our findings provide evidence for a wider role of PTPN11 lesions in leukemogenesis, but also suggest a lineage-related and differentiation stage-related contribution of these lesions to clonal expansion...
  30. ncbi request reprint Transcription factor Ap-2alpha is necessary for development of embryonic melanophores, autonomic neurons and pharyngeal skeleton in zebrafish
    Erin K O'Brien
    Department of Otolaryngology, University of Iowa College of Medicine, Iowa City, IA 52242, USA
    Dev Biol 265:246-61. 2004
    ..These results reveal that Ap-2alpha regulates multiple steps of melanophore development, and is required for development of other neuronal and non-neuronal neural crest derivatives...
  31. pmc Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype
    Claudio Carta
    Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Rome, Italy
    Am J Hum Genet 79:129-35. 2006
    ....
  32. pmc Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans
    Audrey C Au
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA
    Am J Hum Genet 87:436-44. 2010
    ..These results suggest a unique and conserved role for PTPN14 in the regulation of lymphatic development in mammals and a nonconserved role in choanal development in humans...
  33. doi request reprint Multiple thoracic aortic aneurysms after mediastinitis in an infant after repair of coarctation of the aorta
    Laurie E Profitlich
    Department of Pediatric Cardiology, Mount Sinai Medical Center, New York, NY, USA
    J Thorac Cardiovasc Surg 135:444-5, 445.e1. 2008
  34. ncbi request reprint A trial of vitamin A therapy to facilitate ductal closure in premature infants
    Chitra Ravishankar
    Division of Pediatric Cardiology and the Division of Neonatology, Department of Pediatrics, Mount Sinai Medical Center, New York, New York, USA
    J Pediatr 143:644-8. 2003
    ..To determine whether postnatal vitamin A therapy increased ductal closure rate in premature infants...
  35. doi request reprint Evaluation of pulmonary artery banding in the setting of ventricular septal defects and severely elevated pulmonary vascular resistance
    Sadaf A Khan
    Division of Pediatric Cardiology, Mount Sinai School of Medicine, New York, NY 10029, USA
    Congenit Heart Dis 1:244-50. 2006
    ..It has been shown, however, that unloading of the pulmonary hypertension can result in remodeling of the pulmonary vasculature and, thus, improvement of the pulmonary hypertension...
  36. ncbi request reprint Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
    Marco Tartaglia
    Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Viale Regina Elena, 299, 00161 Rome, Italy
    Nat Genet 39:75-9. 2007
    ..Our findings implicate gain-of-function mutations in a RAS guanine nucleotide exchange factor in disease for the first time and define a new mechanism by which upregulation of the RAS pathway can profoundly change human development...
  37. ncbi request reprint 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
    Mary Ella Pierpont
    Children s Hospital of Minnesota and University of Minnesota, USA
    Circulation 115:3015-38. 2007
    ....

Research Grants14

  1. Molecular studies of Noonan syndrome and related disorders
    Bruce D Gelb; Fiscal Year: 2010
    ..A sensitized screen will be performed to identify genes that suppress or enhance that wing phenotype. ..
  2. Molecular studies of Noonan syndrome and related disorders
    Bruce D Gelb; Fiscal Year: 2010
    ..A sensitized screen will be performed to identify genes that suppress or enhance that wing phenotype. ..
  3. Molecular studies of Noonan syndrome and related disorders
    Bruce Gelb; Fiscal Year: 2009
    ..A sensitized screen will be performed to identify genes that suppress or enhance that wing phenotype. ..
  4. Disease pathogenesis of Noonan syndrome and related disorders
    Bruce Gelb; Fiscal Year: 2007
    ..Next, a candidate gene approach will be used to identify additional NS gene(s). This will be coupled with the use of human multiplex NS kindreds without PTPN11 mutations. ..
  5. Molecular Basis of Noonan Syndrome and Related Disorders
    Bruce Gelb; Fiscal Year: 2006
    ..The results will inform future work directed at understanding the pathogenesis of NS and at developing novel therapeutic strategies, such as those ameliorating the progression of cardiac hypertrophy. ..
  6. Molecular Basis of Noonan Syndrome and Related Disorders
    Bruce Gelb; Fiscal Year: 2005
    ..The results will inform future work directed at understanding the pathogenesis of NS and at developing novel therapeutic strategies, such as those ameliorating the progression of cardiac hypertrophy. ..
  7. Molecular Basis of Noonan Syndrome and Related Disorders
    Bruce Gelb; Fiscal Year: 2004
    ..The results will inform future work directed at understanding the pathogenesis of NS and at developing novel therapeutic strategies, such as those ameliorating the progression of cardiac hypertrophy. ..
  8. FAMILIAL PATENT DUCTUS ARTERIOSUS
    Bruce Gelb; Fiscal Year: 2004
    ..Aside from illuminating one pathway toward the clinical endpoint of PDA, it will provide the starting place for identifying genes critical to ductal development that are activated by Char syndrome-related genes. ..
  9. Molecular Basis of Noonan Syndrome and Related Disorders
    Bruce Gelb; Fiscal Year: 2003
    ..The results will inform future work directed at understanding the pathogenesis of NS and at developing novel therapeutic strategies, such as those ameliorating the progression of cardiac hypertrophy. ..
  10. Molecular Basis of Noonan Syndrome and Related Disorders
    Bruce Gelb; Fiscal Year: 2002
    ..The results will inform future work directed at understanding the pathogenesis of NS and at developing novel therapeutic strategies, such as those ameliorating the progression of cardiac hypertrophy. ..