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Disease pathogenesis of Noonan syndrome and related disorders

Funding type: career_development
Funder scheme: K24
Start date: 1999-05-12
End date: 2009-04-30
Investigator: BRUCE D GELB
Institution: ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
Funded outputs count: 26
Funder award ID: K24HD001294
OpenAlex ID: G2834490998
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
2009 · Viviana Cordeddu, Elia Di Schiavi, et al. · Nature Genetics · 419
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Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum
2009 · Anna Sarkozy, Claudio Carta, et al. · Human Mutation · 303
PTPN11analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings
2009 · KA Lee, B Williams, et al. · Clinical Genetics · 84
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development
2008 · Kimihiko Oishi, Hui Zhang, et al. · Human Molecular Genetics · 91
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Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
2007 · Bhaswati Pandit, Anna Sarkozy, et al. · Nature Genetics · 700
The genetics of congenital heart disease: a review of recent developments
2007 · Constance G Weismann, Bruce D Gelb · Current Opinion in Cardiology · 63
Novel functional interaction between Na+/H+exchanger 1 and tyrosine phosphatase SHP-2
2007 · Jin Xue, Dan Zhou, et al. · American Journal of Physiology-Regulatory, Integrative and Comparative Physiology · 28
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
2006 · Marco Tartaglia, Len A Pennacchio, et al. · Nature Genetics · 587
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Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome
2006 · Giuseppe Zampino, Francesca Pantaleoni, et al. · Human Mutation · 132
Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction
2006 · Bruce D. Gelb, Marco Tartaglia · Human Molecular Genetics · 197
Germline Missense Mutations Affecting KRAS Isoform B Are Associated with a Severe Noonan Syndrome Phenotype
2006 · Claudio Carta, Francesca Pantaleoni, et al. · The American Journal of Human Genetics · 225
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Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease
2006 · Marco Tartaglia, Simone Martinelli, et al. · The American Journal of Human Genetics · 415
NOONAN SYNDROME AND RELATED DISORDERS: Genetics and Pathogenesis
2005 · Marco Tartaglia, Bruce D. Gelb · Annual Review of Genomics and Human Genetics · 355
PTPN11 mutations play a minor role in isolated congenital heart disease
2005 · Constance G. Weismann, A. Hager, et al. · American Journal of Medical Genetics Part A · 32
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease
2005 · C. P. Kratz · Blood · 266
Germ-line and somatic PTPN11 mutations in human disease
2005 · Marco Tartaglia, Bruce D. Gelb · European Journal of Medical Genetics · 141
Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome
2005 · J S Lee, M Tartaglia, et al. · Journal of Medical Genetics · 71
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Paternal Germline Origin and Sex-Ratio Distortion in Transmission of PTPN11 Mutations in Noonan Syndrome
2004 · Marco Tartaglia, Viviana Cordeddu, et al. · The American Journal of Human Genetics · 102
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Decreased Bone Turnover and Deterioration of Bone Structure in Two Cases of Pycnodysostosis
2004 · Nadja Fratzl-Zelman, Angelika Valenta, et al. · The Journal of Clinical Endocrinology & Metabolism · 142
Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia
2004 · M. Tartaglia · Blood · 287
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Genetic basis of congenital heart disease
2004 · Bruce D. Gelb · Current Opinion in Cardiology · 72
Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation
2004 · Alessandra Fragale, Marco Tartaglia, et al. · Human Mutation · 193
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Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome
2002 · Andra Ion, Marco Tartaglia, et al. · Human Genetics · 50
PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity
2002 · Marco Tartaglia, Kamini Kalidas, et al. · The American Journal of Human Genetics · 801
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Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus
2000 · Masahiko Satoda, Feng Zhao, et al. · Nature Genetics · 261
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