Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation (Q40443186)

20 September 2017

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Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation (English)

1 reference

arteriovenous malformation

20 September 2017

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2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28190454%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

author name string

Javier A Couto

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28190454%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Dennis J Konczyk

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28190454%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Jeremy A Goss

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28190454%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Steven J Fishman

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28190454%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

John B Mulliken

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28190454%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Matthew L Warman

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28190454%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Arin K Greene

8

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11 June 2020

language of work or name

English

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publication date

30 January 2017

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American Journal of Human Genetics

20 September 2017

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28190454%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

volume

100

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11 June 2020

issue

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28190454%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

page(s)

546-554

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28190454%20AND%20SRC:MED&resulttype=core&format=json

Analysis of protein-coding genetic variation in 60,706 humans

11 June 2020

cites work

1 reference

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GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK Activation

22 September 2017

1 reference

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MEK1 and MEK2 inhibitors and cancer therapy: the long and winding road

22 September 2017

1 reference

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A somatic MAP3K3 mutation is associated with verrucous venous malformation

22 September 2017

1 reference

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Somatic Activating RAS Mutations Cause Vascular Tumors Including Pyogenic Granuloma.

22 September 2017

1 reference

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Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA

22 September 2017

1 reference

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MAP2K1 (MEK1) Mutations Define a Distinct Subset of Lung Adenocarcinoma Associated with Smoking

22 September 2017

1 reference

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Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals

22 September 2017

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Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis.

22 September 2017

1 reference

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Ras/Raf/MEK/ERK Pathway Activation in Childhood Acute Lymphoblastic Leukemia and Its Therapeutic Targeting

22 September 2017

1 reference

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Ras, Raf, and MAP kinase in melanoma

22 September 2017

1 reference

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Human white adipose tissue vasculature contains endothelial colony-forming cells with robust in vivo vasculogenic potential.

22 September 2017

1 reference

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Ras/MAPK syndromes and childhood hemato-oncological diseases

22 September 2017

1 reference

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An integrated map of genetic variation from 1,092 human genomes

22 September 2017

1 reference

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Evolution and functional impact of rare coding variation from deep sequencing of human exomes

22 September 2017

1 reference

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Oncogenic MAP2K1 mutations in human epithelial tumors.

22 September 2017

1 reference

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Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma.

22 September 2017

1 reference

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The ERK Cascade: Distinct Functions within Various Subcellular Organelles

22 September 2017

1 reference

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Clinical manifestations of mutations in RAS and related intracellular signal transduction factors

22 September 2017

1 reference

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5339083

Management of arteriovenous malformations

22 September 2017

1 reference

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A method and server for predicting damaging missense mutations

22 September 2017

1 reference

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

22 September 2017

1 reference

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Fast and accurate short read alignment with Burrows-Wheeler transform

22 September 2017

1 reference

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Novel MEK1 mutation identified by mutational analysis of epidermal growth factor receptor signaling pathway genes in lung adenocarcinoma

22 September 2017

1 reference

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Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy

22 September 2017

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Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

22 September 2017

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22 September 2017

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Use of molecular variation in the NCBI dbSNP database

22 September 2017

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Embryonic death of Mek1-deficient mice reveals a role for this kinase in angiogenesis in the labyrinthine region of the placenta

22 September 2017

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Transformation of mammalian cells by constitutively active MAP kinase kinase

22 September 2017

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

22 September 2017

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

25 September 2017

1 reference

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Arteriovenous malformations of the head and neck: natural history and management.

20 August 2018

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Mutation analysis of the coding sequences of MEK-1 and MEK-2 genes in human lung cancer cell lines.

20 August 2018

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Vascular anomalies in 5,621 patients: guidelines for referral

20 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28190454

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Extracranial arteriovenous malformations: natural progression and recurrence after treatment

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28190454

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2017.01.018

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28190454%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28190454%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference