Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ (Q28290315)

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29 February 2020

title

Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ (English)

1 reference

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29 February 2020

0 references

1

1 reference

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29 February 2020

Joseph D Baugher

4

1 reference

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29 February 2020

7

Paula E North

1 reference

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29 February 2020

author name string

Hao Tang

2

1 reference

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29 February 2020

Carol J Gallione

3

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29 February 2020

Laurence P Frelin

5

1 reference

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29 February 2020

Bernard Cohen

6

1 reference

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29 February 2020

Douglas A Marchuk

8

1 reference

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29 February 2020

Anne M Comi

9

1 reference

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29 February 2020

Jonathan Pevsner

10

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29 February 2020

language of work or name

English

0 references

publication date

8 May 2013

1 reference

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The New England Journal of Medicine

29 February 2020

published in

1 reference

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29 February 2020

volume

368

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29 February 2020

page(s)

1971-1979

1 reference

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29 February 2020

issue

21

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A landscape of driver mutations in melanoma

29 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3749068

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

20 March 2017

1 reference

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Mutations in GNA11 in uveal melanoma

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3749068

Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3749068

GAIP and RGS4 are GTPase-activating proteins for the Gi subfamily of G protein alpha subunits

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3749068

Structures of active conformations of Gi alpha 1 and the mechanism of GTP hydrolysis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3749068

Effects of G-protein mutations on skin color

20 March 2017

1 reference

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A genome-wide RNAi screen reveals a Trio-regulated Rho GTPase circuitry transducing mitogenic signals initiated by G protein-coupled receptors.

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3749068

Regulators of G-protein signaling and their Gα substrates: promises and challenges in their use as drug discovery targets

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3749068

A probabilistic disease-gene finder for personal genomes.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3749068

Pasteurella multocida toxin activation of heterotrimeric G proteins by deamidation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3749068

Update on Sturge-Weber syndrome: diagnosis, treatment, quantitative measures, and controversies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3749068

Phakomatosis pigmentovascularis type IIb associated with Sturge-Weber syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3749068

A novel Galphaq/11-selective inhibitor

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3749068

Vascular effects of endothelin-1 in stage 21 chick embryos

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3749068

RGS4 and GAIP are GTPase-activating proteins for Gq alpha and block activation of phospholipase C beta by gamma-thio-GTP-Gq alpha

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3749068

Activating mutations of the stimulatory G protein in the McCune-Albright syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3749068

Facial port-wine stains - clinical stratification and risks of neuro-ocular involvement.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3749068

Klippel-Trenaunay syndrome and Sturge-Weber syndrome: variations on a theme?

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3749068

Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3749068

Recombinant Gq alpha. Mutational activation and coupling to receptors and phospholipase C

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3749068

Sturge-Weber syndrome in patients with facial port-wine stain.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3749068

Mammalian target of rapamycin (mTOR) is activated in cutaneous vascular malformations in vivo

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3749068

Sturge-Weber syndrome: soft-tissue and skeletal overgrowth

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23656586

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Phacomatosis pigmentovascularis of cesioflammea type in 7 patients: combination of ocular pigmentation (melanocytosis or melanosis) and nevus flammeus with risk for melanoma

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23656586

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Angiodysplasia with osteohypertrophy affecting the oromaxillofacial area: clinical findings

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23656586

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1056/NEJMOA1213507

2 references

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29 February 2020

1 reference

2 references

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29 February 2020

2 references