A Novel SHOC2 Variant in Rasopathy (Q24302232)

protein phosphatase 1 binding

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

Vickie Hannig

1

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Myoungkun Jeoung

2

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Eun Ryoung Jang

3

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John A Phillips

4

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Emilia Galperin

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

5

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language of work or name

English

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publication date

November 2014

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published in

Human Mutation

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volume

35

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issue

11

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page(s)

1290-4

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213265

A phosphatase holoenzyme comprised of Shoc2/Sur8 and the catalytic subunit of PP1 functions as an M-Ras effector to modulate Raf activity

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213265

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213265

Functional Integration of the Conserved Domains of Shoc2 Scaffold

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213265

Shoc2 is targeted to late endosomes and required for Erk1/2 activation in EGF-stimulated cells

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213265

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213265

Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213265

An MRAS, SHOC2, and SCRIB complex coordinates ERK pathway activation with polarity and tumorigenic growth

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213265

Cardio-facio-cutaneous syndrome: does genotype predict phenotype?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213265

Noonan syndrome and clinically related disorders

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213265

Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213265

The face of Noonan syndrome: Does phenotype predict genotype.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213265

Towards a comprehensive analysis of the protein phosphatase 1 interactome in Drosophila.

19 June 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22634

Noonan-like syndrome with loose anagen hair: a new syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22634

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22634

Neurological complications of cardio-facio-cutaneous syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22634

Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213265

Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25137548

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25137548