SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations (Q35056507)

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24 January 2020

title

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations (English)

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24 January 2020

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1

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Margherita Cirillo Silengo

24 January 2020

21

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24 January 2020

Bruno Dallapiccola

28

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24 January 2020

Marco Tartaglia

30

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24 January 2020

Lorenzo Stella

3

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24 January 2020

C Rossi

4

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24 January 2020

Viviana Cordeddu

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24 January 2020

Maria F. Faienza

14

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Giovanni Battista Ferrero

24 January 2020

22

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24 January 2020

Laura Mazzanti

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24 January 2020

6

Francesca Pantaleoni

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24 January 2020

author name string

Alessandro De Luca

2

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24 January 2020

Giuseppina Baldassarre

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24 January 2020

Bradley J Williams

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24 January 2020

Maria L Dentici

9

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24 January 2020

Viviana Caputo

10

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24 January 2020

Serenella Venanzi

11

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Michela Bonaguro

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Ines Kavamura

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24 January 2020

Alba Pilotta

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Franco Stanzial

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24 January 2020

Francesca Faravelli

17

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24 January 2020

Orazio Gabrielli

18

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24 January 2020

Bruno Marino

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Giovanni Neri

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24 January 2020

Isabella Torrrente

23

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24 January 2020

Angelo Selicorni

24

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24 January 2020

Maria C Digilio

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Giuseppe Zampino

27

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24 January 2020

Bruce D Gelb

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publication date

28 April 2011

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24 January 2020

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24 January 2020

volume

32

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24 January 2020

issue

7

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24 January 2020

page(s)

760-772

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Noonan syndrome and clinically related disorders

24 January 2020

cites work

1 reference

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Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation

8 July 2018

1 reference

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Noonan syndrome: clinical aspects and molecular pathogenesis

8 July 2018

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Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma

8 July 2018

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Allosteric gating of Son of sevenless activity by the histone domain

8 July 2018

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Role of the histone domain in the autoinhibition and activation of the Ras activator Son of Sevenless

8 July 2018

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De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

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SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome

8 July 2018

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SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions

8 July 2018

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Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

8 July 2018

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A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins.

8 July 2018

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PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome

8 July 2018

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Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

8 July 2018

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The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders

8 July 2018

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Membrane-dependent signal integration by the Ras activator Son of sevenless

8 July 2018

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SOS1 mutations are rare in human malignancies: implications for Noonan Syndrome patients

8 July 2018

1 reference

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Central giant cell granuloma of the jaw: a review of the literature with emphasis on therapy options

8 July 2018

1 reference

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

8 July 2018

1 reference

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Phospholipase D2-generated phosphatidic acid couples EGFR stimulation to Ras activation by Sos.

8 July 2018

1 reference

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

8 July 2018

1 reference

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A Ras-induced conformational switch in the Ras activator Son of sevenless

8 July 2018

1 reference

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Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

8 July 2018

1 reference

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118925

Computational docking and solution x-ray scattering predict a membrane-interacting role for the histone domain of the Ras activator son of sevenless

8 July 2018

1 reference

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Noonan syndrome and related disorders: genetics and pathogenesis

8 July 2018

1 reference

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Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome

8 July 2018

1 reference

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Structural analysis of autoinhibition in the Ras activator Son of sevenless

8 July 2018

1 reference

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8 July 2018

1 reference

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Genotype-phenotype correlations in Noonan syndrome

8 July 2018

1 reference

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Structural evidence for feedback activation by Ras.GTP of the Ras-specific nucleotide exchange factor SOS

8 July 2018

1 reference

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8 July 2018

1 reference

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

8 July 2018

1 reference

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A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1

8 July 2018

1 reference

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

8 July 2018

1 reference

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Electrostatics of nanosystems: application to microtubules and the ribosome

8 July 2018

1 reference

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Predicting deleterious amino acid substitutions

8 July 2018

1 reference

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Towards a structural basis of human non-synonymous single nucleotide polymorphisms

8 July 2018

1 reference

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118925

Two-sided confidence intervals for the single proportion: comparison of seven methods

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118925

Regulation of Sos activity by intramolecular interactions

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118925

The solution structure of the pleckstrin homology domain of human SOS1. A possible structural role for the sequential association of diffuse B cell lymphoma and pleckstrin homology domains

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118925

The role of the PH domain in the signal-dependent membrane targeting of Sos.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118925

Identification of the mitogen-activated protein kinase phosphorylation sites on human Sos1 that regulate interaction with Grb2

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118925

Noonan syndrome. An update and review for the primary pediatrician

8 July 2018

1 reference

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Membrane targeting of the nucleotide exchange factor Sos is sufficient for activating the Ras signaling pathway.

8 July 2018

1 reference

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The Grb2 binding domain of mSos1 is not required for downstream signal transduction

8 July 2018

1 reference

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A clinical study of Noonan syndrome

8 July 2018

1 reference

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Clinical and molecular characterization of 40 patients with Noonan syndrome.

8 July 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21492

Structure-based mutagenesis reveals distinct functions for Ras switch 1 and switch 2 in Sos-catalyzed guanine nucleotide exchange

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21492

Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21492

Germ line gain of function with SOS1 mutation in hereditary gingival fibromatosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21492

Mutation screening of the PTPN11 gene in hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21492

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21492

Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21492

ThePTPN11gene is not implicated in nonsyndromic hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21492

Phenotype-genotype correlation in a patient with co-occurrence of Marfan and LEOPARD syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21492

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21492

Probable Inference, the Law of Succession, and Statistical Inference

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21492

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21492

Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118925

IndependentNF1andPTPN11mutations in a family with neurofibromatosis-Noonan syndrome

25 October 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21492

Hyperthrophic cardiomyopathy and thePTPN11 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21492

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21492

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

21 January 2018

1 reference

12 December 2020

Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations

1 reference

12 December 2020

PTPN11 mutations play a minor role in isolated congenital heart disease

1 reference

12 December 2020

Nonsyndromic pulmonary valve stenosis and the PTPN11 gene

1 reference

12 December 2020

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

1 reference

12 December 2020

A further patient with Noonan syndrome due to a SOS1 mutation and rhabdomyosarcoma

1 reference

12 December 2020

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.21492

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21387466%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21387466%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

1 reference