Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex (Q37649083)

21 August 2017

Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex (English)

1 reference

21 August 2017

1 reference

1 reference

Magdalena E Tyburczy

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271014%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Ji-An Wang

2

1 reference

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8 June 2020

Shaowei Li

3

1 reference

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8 June 2020

Rajesh Thangapazham

4

1 reference

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8 June 2020

Yvonne Chekaluk

5

1 reference

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8 June 2020

David J Kwiatkowski

7

1 reference

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8 June 2020

publication date

23 November 2013

1 reference

21 August 2017

Human Molecular Genetics

1 reference

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8 June 2020

volume

23

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8 June 2020

issue

8

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8 June 2020

page(s)

2023-2029

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Angiomyolipoma have common mutations in TSC2 but no other common genetic events

8 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959815

Recognition of tuberous sclerosis in adult women: delayed presentation with life-threatening consequences

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959815

The mechanisms of UV mutagenesis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959815

Human TSC2-null fibroblast-like cells induce hair follicle neogenesis and hamartoma morphogenesis.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959815

Integrative genomics viewer

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959815

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959815

Lymphangioleiomyomatosis (LAM): molecular insights lead to targeted therapies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959815

Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959815

Fast and accurate long-read alignment with Burrows-Wheeler transform

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959815

Inherited susceptibility to common cancers

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959815

MCP-1 overexpressed in tuberous sclerosis lesions acts as a paracrine factor for tumor development

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959815

Tuberin regulates p70 S6 kinase activation and ribosomal protein S6 phosphorylation. A role for the TSC2 tumor suppressor gene in pulmonary lymphangioleiomyomatosis (LAM)

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959815

Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959815

Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959815

Exonic mutations of TSC2/TSC1 are common but not seen in all sporadic pulmonary lymphangioleiomyomatosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959815

Mutations of the p53 and PTCH gene in basal cell carcinomas: UV mutation signature and strand bias

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959815

PATCHED and p53 gene alterations in sporadic and hereditary basal cell cancer.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959815

Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959815

1 September 2018

Identifiers

DOI

10.1093/HMG/DDT597

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271014%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271014%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

PubMed publication ID

24271014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24271014%20AND%20SRC:MED&resulttype=core&format=json