Germline KRAS mutations cause Noonan syndrome (Q28297024)

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Ineke van der Burgt

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Luciana Musante

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Erik Sistermans

object named as

Erik Sistermans

14

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Gideon Bollag

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object named as

Gideon Bollag

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Martin Zenker

2

object named as

Martin Zenker

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author name string

Suzanne Schubbert

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Sara L Rowe

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Silke Böll

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Cornelia Klein

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Lars-Erik Wehner

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Hoa Nguyen

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Brian West

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Kam Y J Zhang

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Charlotte M Niemeyer

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Kevin Shannon

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Christian P Kratz

Noonan syndrome and related disorders: genetics and pathogenesis

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language of work or name

English

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publication date

March 2006

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published in

Nature Genetics

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volume

38

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issue

3

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page(s)

331-6

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cites work

1 reference

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

21 January 2018

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The 'Shp'ing news: SH2 domain-containing tyrosine phosphatases in cell signaling

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CFC index for the diagnosis of cardiofaciocutaneous syndrome

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The guanine nucleotide-binding switch in three dimensions

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Loss of NF1 results in activation of the Ras signaling pathway and leads to aberrant growth in haematopoietic cells

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Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders

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1 reference

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia

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1 reference

The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease

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1 reference

Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes

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1 reference

Prognostic, therapeutic, and mechanistic implications of a mouse model of leukemia evoked by Shp2 (PTPN11) mutations.

21 January 2018

1 reference

Human somatic PTPN11 mutations induce hematopoietic-cell hypersensitivity to granulocyte-macrophage colony-stimulating factor

21 January 2018

1 reference

Functional analysis of leukemia-associated PTPN11 mutations in primary hematopoietic cells

21 January 2018

1 reference

Biochemical characterization of a novel KRAS insertion mutation from a human leukemia

21 January 2018

1 reference

Differential regulation of rasGAP and neurofibromatosis gene product activities

21 January 2018

1 reference

Oncogenic ras provokes premature cell senescence associated with accumulation of p53 and p16INK4a

21 January 2018

1 reference

Germline mutations in HRAS proto-oncogene cause Costello syndrome

21 January 2018

1 reference

Endogenous oncogenic K-ras(G12D) stimulates proliferation and widespread neoplastic and developmental defects.

21 January 2018

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K-ras is an essential gene in the mouse with partial functional overlap with N-ras

21 January 2018

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Specificity of receptor tyrosine kinase signaling: transient versus sustained extracellular signal-regulated kinase activation

21 January 2018

1 reference

Three-dimensional structures and properties of a transforming and a nontransforming glycine-12 mutant of p21H-ras

21 January 2018

1 reference

Nf1 deficiency causes Ras-mediated granulocyte/macrophage colony stimulating factor hypersensitivity and chronic myeloid leukaemia

21 January 2018

1 reference

Neurofibromin GTPase-activating protein-related domains restore normal growth in Nf1-/- cells

21 January 2018

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Effector domain mutations dissociate p21ras effector function and GTPase-activating protein interaction

21 January 2018

1 reference

Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation

21 January 2018

1 reference

Genotype-phenotype correlations in Noonan syndrome

21 January 2018

1 reference

Hyperactivation of protein kinase B and ERK have discrete effects on survival, proliferation, and cytokine expression in Nf1-deficient myeloid cells

21 January 2018

1 reference

Inherited predispositions and hyperactive Ras in myeloid leukemogenesis

21 January 2018

1 reference