Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy (Q27865193)

16 November 2016

title

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy (English)

1 reference

PubMed

PubMed publication ID

17603483

hypertrophic cardiomyopathy

16 November 2016

main subject

1 reference

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Andrew Landstrom

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Michael J Ackerman

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Len A. Pennacchio

object named as

Len A Pennacchio

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Anna Ustaszewska

object named as

Anna Ustaszewska

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Bhaswati Pandit

object named as

Bhaswati Pandit

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author name string

Steve R Ommen

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Simone Martinelli

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Romano Tenconi

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Peter Mundel

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Maria C Digilio

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Kimihiko Oishi

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Juan P López Siguero

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J Martijn Bos

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Isabella Torrente

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Giorgia Esposito

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Edgar A Pogna

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Christian Faul

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Cesare Rossi

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Bruno Marino

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Angelo Selicorni

HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

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language of work or name

English

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publication date

August 2007

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1007-12

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cites work

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High incidence of malformation syndromes in a series of 1,073 children with cancer.

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Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype

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PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects

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Germline KRAS mutations cause Noonan syndrome

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Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

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Germline gain-of-function mutations in SOS1 cause Noonan syndrome

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Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

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Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene

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Germline mutations in HRAS proto-oncogene cause Costello syndrome

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Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

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Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome

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Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease

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PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity

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Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patients

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Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy

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The RAF proteins take centre stage

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Mutations of C-RAF are rare in human cancer because C-RAF has a low basal kinase activity compared with B-RAF

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Two transforming C-RAF germ-line mutations identified in patients with therapy-related acute myeloid leukemia

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Patterns of somatic mutation in human cancer genomes

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Interaction of 14-3-3 with signaling proteins is mediated by the recognition of phosphoserine

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14-3-3 antagonizes Ras-mediated Raf-1 recruitment to the plasma membrane to maintain signaling fidelity

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Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF

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Role of raf proteins in cardiac hypertrophy and cardiomyocyte survival

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The MEK1-ERK1/2 signaling pathway promotes compensated cardiac hypertrophy in transgenic mice

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Ventricular expression of a MLC-2v-ras fusion gene induces cardiac hypertrophy and selective diastolic dysfunction in transgenic mice.

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Cardiac-specific disruption of the c-raf-1 gene induces cardiac dysfunction and apoptosis

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Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.

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Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive)

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7 January 2021