Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling (Q37153028)

18 August 2017

Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling (English)

1 reference

18 August 2017

vascular malformation

1 reference

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11 June 2020

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11 June 2020

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11 June 2020

Arda Cetinkaya

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11 June 2020

Jingwei Rachel Xiong

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11 June 2020

İbrahim Vargel

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11 June 2020

Kemal Kösemehmetoğlu

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11 June 2020

Halil İbrahim Canter

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11 June 2020

Ömer Faruk Gerdan

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11 June 2020

Nicola Longo

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11 June 2020

Ahmad Alzahrani

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11 June 2020

Mireia Perez Camps

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Ekim Zihni Taskiran

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Simone Laupheimer

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Lorenzo D Botto

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11 June 2020

Eeswari Paramalingam

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11 June 2020

Elif Uz

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11 June 2020

Bayram Yuksel

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11 June 2020

Şevket Ruacan

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11 June 2020

Mahmut Şamil Sağıroğlu

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11 June 2020

Bruno Reversade

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11 June 2020

language of work or name

English

0 references

publication date

27 July 2016

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American Journal of Human Genetics

18 August 2017

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11 June 2020

volume

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issue

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11 June 2020

page(s)

299-317

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describes a project that uses

11 June 2020

ImageJ

1 reference

11 June 2022

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inferred from PubMed Central ID database lookup

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6 September 2017

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Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

6 September 2017

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6 September 2017

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In vitro studies of novel PRKAR1A mutants that extend the predicted RIα protein sequence into the 3'-untranslated open reading frame: proteasomal degradation leads to RIα haploinsufficiency and Carney complex

6 September 2017

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Epidermal growth factor induction of front-rear polarity and migration in keratinocytes is mediated by integrin-linked kinase and ELMO2.

6 September 2017

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Massive Craniofacial Intraosseous Vascular Malformation Resembling Cystic Angiomatosis: Report of 2 Cases and Review of the Literature

6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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Drosophila ELMO/CED-12 interacts with Myoblast city to direct myoblast fusion and ommatidial organization

6 September 2017

1 reference

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A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

6 September 2017

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Induction of pluripotent stem cells from adult human fibroblasts by defined factors

6 September 2017

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Clustal W and Clustal X version 2.0

6 September 2017

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Primary skull lesions in the pediatric population: a 25-year experience

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974086

Maxillary intraosseous vascular malformation: a case report and literature review

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974086

Hepatocyte growth factor mediates angiopoietin-induced smooth muscle cell recruitment

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974086

Elmo1 inhibits ubiquitylation of Dock180

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974086

Dock180-ELMO cooperation in Rac activation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974086

6 September 2017

1 reference

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Unconventional Rac-GEF activity is mediated through the Dock180-ELMO complex

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974086

CED-12/ELMO, a novel member of the CrkII/Dock180/Rac pathway, is required for phagocytosis and cell migration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974086

Molecular mechanisms of blood vessel growth

6 September 2017

1 reference

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Benign vascular lesions of bone: radiologic and pathologic features

6 September 2017

1 reference

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Regulation of vascular smooth muscle tone by N-terminal region of caldesmon. Possible role of tethering actin to myosin

6 September 2017

1 reference

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6 September 2017

1 reference

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Hemangiomas and vascular malformations in infants and children: a classification based on endothelial characteristics

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974086

The Rac1 regulator ELMO1 controls vascular morphogenesis in zebrafish.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974086

Quantitative analysis of HGF and EGF-dependent phosphotyrosine signaling networks

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974086

A clinical, radiologic, and immunopathologic study of five periorbital intraosseous cavernous vascular malformations.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974086

Vascular lesions of bone in children, adolescents, and young adults. A clinicopathologic reappraisal and application of the ISSVA classification

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974086

Hereditary intraosseous vascular malformation of the craniofacial region: imaging findings.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974086

Hereditary intraosseous vascular malformation of the craniofacial region: an apparently novel disorder.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974086

Cavernous hemangioma of the sphenoid wing

3 September 2018

1 reference

12 December 2020

An ex vivo model for functional studies of myofibroblasts

1 reference

12 December 2020

Cystic angiomatosis of bone: a case report

1 reference

12 December 2020

h-Caldesmon in leiomyosarcoma and tumors with smooth muscle cell-like differentiation: its specific expression in the smooth muscle cell tumor

1 reference

12 December 2020

10.1016/J.AJHG.2016.06.008

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27476657%20AND%20SRC:MED&resulttype=core&format=json

release_72sxjusoxreovoptlndyjbw5ni

11 June 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/72sxjusoxreovoptlndyjbw5ni

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27476657%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

PubMed publication ID

27476657

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27476657%20AND%20SRC:MED&resulttype=core&format=json