PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity (Q34522913)

2 August 2017

title

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

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genotype-phenotype correlation

2 August 2017

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phenotypic heterogeneity

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1

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2 August 2017

Débora R Bertola

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Han G Brunner

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2 August 2017

Kamini Kalidas

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2 August 2017

Adam Shaw

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2 August 2017

Xiaoling Song

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2 August 2017

Dan L Musat

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2 August 2017

Ineke van der Burgt

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2 August 2017

Andrew Crosby

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2 August 2017

Andra Ion

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2 August 2017

Raju S Kucherlapati

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2 August 2017

Steve Jeffery

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2 August 2017

Michael A Patton

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2 August 2017

language of work or name

English

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publication date

1 May 2002

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American Journal of Human Genetics

2 August 2017

published in

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2 August 2017

volume

70

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2 August 2017

issue

6

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2 August 2017

page(s)

1555-1563

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

2 August 2017

cites work

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7 July 2018

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The tyrosine phosphatase SHP-2 is required for sustained activation of extracellular signal-regulated kinase and epithelial morphogenesis downstream from the met receptor tyrosine kinase

7 July 2018

1 reference

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Genetic heterogeneity in Noonan syndrome: evidence for an autosomal recessive form

7 July 2018

1 reference

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Mutation of the SHP-2 binding site in growth hormone (GH) receptor prolongs GH-promoted tyrosyl phosphorylation of GH receptor, JAK2, and STAT5B

7 July 2018

1 reference

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Molecular mechanism for the Shp-2 tyrosine phosphatase function in promoting growth factor stimulation of Erk activity

7 July 2018

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Activated mutants of SHP-2 preferentially induce elongation of Xenopus animal caps

7 July 2018

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Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal

7 July 2018

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7 July 2018

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Genetic evidence that Shp-2 tyrosine phosphatase is a signal enhancer of the epidermal growth factor receptor in mammals

7 July 2018

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Biased suppression of hematopoiesis and multiple developmental defects in chimeric mice containing Shp-2 mutant cells

7 July 2018

1 reference

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Shp-2 has a positive regulatory role in ES cell differentiation and proliferation

7 July 2018

1 reference

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SHP-2, SH2-containing protein tyrosine phosphatase-2.

7 July 2018

1 reference

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Crystal structure of the tyrosine phosphatase SHP-2

7 July 2018

1 reference

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Abnormal mesoderm patterning in mouse embryos mutant for the SH2 tyrosine phosphatase Shp-2.

7 July 2018

1 reference

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The nonreceptor protein tyrosine phosphatase corkscrew functions in multiple receptor tyrosine kinase pathways in Drosophila

7 July 2018

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Insulin signaling in mice expressing reduced levels of Syp.

7 July 2018

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Expression of catalytically inactive Syp phosphatase in 3T3 cells blocks stimulation of mitogen-activated protein kinase by insulin.

7 July 2018

1 reference

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Mapping a gene for Noonan syndrome to the long arm of chromosome 12

7 July 2018

1 reference

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Crystal structures of peptide complexes of the amino-terminal SH2 domain of the Syp tyrosine phosphatase

7 July 2018

1 reference

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The Ullrich-Noonan syndrome (Turner phenotype).

7 July 2018

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Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease

7 July 2018

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Noonan-like/multiple giant cell lesion syndrome

7 July 2018

1 reference

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Regulation of the mitogen-activated protein kinase signaling pathway by SHP2.

7 July 2018

1 reference

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Regulation of insulin-like growth factor I receptor dephosphorylation by SHPS-1 and the tyrosine phosphatase SHP-2.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379142

The SH2 tyrosine phosphatase shp2 is required for mammalian limb development.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379142

Expression and catalytic activity of the tyrosine phosphatase PTP1C is severely impaired in motheaten and viable motheaten mice

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379142

27 October 2018

1 reference

12 December 2020

Motheaten and viable motheaten mice have mutations in the haematopoietic cell phosphatase gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Potent stimulation of SH-PTP2 phosphatase activity by simultaneous occupancy of both SH2 domains

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12 December 2020

Clinical and molecular studies in a large Dutch family with Noonan syndrome

1 reference

12 December 2020

The SH2-containing protein-tyrosine phosphatase SH-PTP2 is required upstream of MAP kinase for early Xenopus development

1 reference

12 December 2020

Further delineation of the critical region for noonan syndrome on the long arm of chromosome 12

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12 December 2020

The specificity of the N-terminal SH2 domain of SHP-2 is modified by a single point mutation

1 reference

12 December 2020

Mice mutant for Egfr and Shp2 have defective cardiac semilunar valvulogenesis

1 reference

12 December 2020

Cardiac findings in 31 patients with Noonan's syndrome

1 reference

12 December 2020

Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities?

1 reference

12 December 2020

Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family

1 reference

12 December 2020

Distribution of left ventricular hypertrophy in hypertrophic cardiomyopathy: a two-dimensional echocardiographic study

1 reference

12 December 2020

Identifiers

DOI

10.1086/340847

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2 August 2017

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2 August 2017

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