(Q46934675)

English

Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome

scientific article published on 17 January 2013

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/23335589

Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome (English)

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/23335589

6

object named as

Martin Zenker

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/23335589

author name string

Sybille Lorenz

1

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Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/23335589

Christina Lissewski

2

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/23335589

Pelin O Simsek-Kiper

3

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/23335589

Yasemin Alanay

4

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/23335589

Koray Boduroglu

5

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/23335589

Georg Rosenberger

7

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Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/23335589

publication date

17 January 2013

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Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/23335589

Human Molecular Genetics

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Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/23335589

22

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Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/23335589

8

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/23335589

1643-1653

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/23335589

Germline mutations in HRAS proto-oncogene cause Costello syndrome

1 reference

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21 January 2018

Guanine nucleotide exchange factors operate by a simple allosteric competitive mechanism

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GTPase activating proteins: structural and functional insights 18 years after discovery

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Ras oncogenes: split personalities

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Analysis of the transforming potential of the human H-ras gene by random mutagenesis

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Mutational and kinetic analyses of the GTPase-activating protein (GAP)-p21 interaction: the C-terminal domain of GAP is not sufficient for full activity

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The Ras-RasGAP complex: structural basis for GTPase activation and its loss in oncogenic Ras mutants

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Biological properties of human c-Ha-ras1 genes mutated at codon 12.

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Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation

1 reference

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21 January 2018

Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation

1 reference

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21 January 2018

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

1 reference

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21 January 2018

Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation

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21 January 2018

A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.

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21 January 2018

The guanine nucleotide-binding switch in three dimensions

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21 January 2018

The structural basis of the activation of Ras by Sos

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21 January 2018

Novel type of Ras effector interaction established between tumour suppressor NORE1A and Ras switch II

1 reference

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21 January 2018

Dominant inhibitory mutations in the Mg(2+)-binding site of RasH prevent its activation by GTP

1 reference

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21 January 2018

Dominant inhibitory Ras mutants selectively inhibit the activity of either cellular or oncogenic Ras.

1 reference

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21 January 2018

Structural fingerprints of the Ras-GTPase activating proteins neurofibromin and p120GAP

1 reference

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21 January 2018

Structural analysis of the GAP-related domain from neurofibromin and its implications

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21 January 2018

Hyperactive Ras in developmental disorders and cancer

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21 January 2018

Crystal structure and functional analysis of Ras binding to its effector phosphoinositide 3-kinase gamma

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21 January 2018

Structural and mechanistic insights into ras association domains of phospholipase C epsilon

1 reference

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21 January 2018

Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome

1 reference

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21 January 2018

Four faces of cellular senescence.

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Cellular senescence in cancer and aging

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21 January 2018

Oncogene-induced senescence: the bright and dark side of the response

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21 January 2018

Expression of H-RASV12 in a zebrafish model of Costello syndrome causes cellular senescence in adult proliferating cells

1 reference

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21 January 2018

HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome

1 reference

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21 January 2018

Prematurely aged children: molecular alterations leading to Hutchinson-Gilford progeria and Werner syndromes

1 reference

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21 January 2018

Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia

1 reference

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21 January 2018

Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.

1 reference

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21 January 2018

Transformation potential of Ras isoforms correlates with activation of phosphatidylinositol 3-kinase but not ERK.

1 reference

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21 January 2018

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

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21 January 2018

Somatic activation of AKT3 causes hemispheric developmental brain malformations

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21 January 2018

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

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A mosaic activating mutation in AKT1 associated with the Proteus syndrome

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High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities.

1 reference

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Polyhydramnios, fetal overgrowth, and macrocephaly: prenatal ultrasound findings of Costello syndrome.

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Minimal Ras-binding domain of Raf1 can be used as an activation-specific probe for Ras.

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The Ras superfamily at a glance

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21 January 2018

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C

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Severe neonatal manifestations of Costello syndrome

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Diversity, parental germline origin, and phenotypic spectrum of de novoHRASmissense changes in Costello syndrome

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Structural insights into phosphoinositide 3-kinase catalysis and signalling

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21 January 2018

Identifiers

10.1093/HMG/DDT014

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/23335589

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/23335589

ResearchGate publication ID

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