(Q34182980)

English

Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events (English)

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Harry V Vinters

3

object named as

Harry V Vinters

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

4

object named as

Gary W Mathern

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

author name string

Wei Qin

1

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Jennifer A Chan

2

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

David N Franz

5

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Bruce E Taillon

6

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Pascal Bouffard

7

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

David J Kwiatkowski

8

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

publication date

13 July 2010

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Brain Pathology

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

20

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

1096-1105

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

describes a project that uses

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2951479/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

Gene expression analysis of tuberous sclerosis complex cortical tubers reveals increased expression of adhesion and inflammatory factors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951479

5 July 2018

Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951479

5 July 2018

PDGFRs are critical for PI3K/Akt activation and negatively regulated by mTOR

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951479

5 July 2018

The neurobiology of the tuberous sclerosis complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951479

5 July 2018

The tuberous sclerosis complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951479

5 July 2018

Giant cells: contradiction to two-hit model of tuber formation?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951479

5 July 2018

Genome sequencing in microfabricated high-density picolitre reactors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951479

5 July 2018

Pathogenesis of hereditary tumors: beyond the "two-hit" hypothesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951479

5 July 2018

Widespread anatomical abnormalities of grey and white matter structure in tuberous sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951479

5 July 2018

Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951479

5 July 2018

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951479

5 July 2018

Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951479

5 July 2018

Complete inactivation of the TSC2 gene leads to formation of hamartomas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951479

5 July 2018

Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951479

5 July 2018

Evidence that lymphangiomyomatosis is caused by TSC2 mutations: chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951479

5 July 2018

Cortical tuber count: a biomarker indicating neurologic severity of tuberous sclerosis complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951479

5 July 2018

Loss of heterozygosity in tuberous sclerosis hamartomas.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951479

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951479

5 July 2018

Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2010.00416.X

21 January 2018

Low-abundance drug-resistant viral variants in chronically HIV-infected, antiretroviral treatment-naive patients significantly impact treatment outcomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951479

28 October 2018

Identification of S664 TSC2 phosphorylation as a marker for extracellular signal-regulated kinase mediated mTOR activation in tuberous sclerosis and human cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951479

28 October 2018

Mental retardation and relation to seizure and tuber burden in tuberous sclerosis complex.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951479

28 October 2018

Prognostic significance of tuber count and location in tuberous sclerosis complex.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951479

28 October 2018

Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951479

28 October 2018

Phosphorylation of tuberin as a novel mechanism for somatic inactivation of the tuberous sclerosis complex proteins in brain lesions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951479

28 October 2018

Markers of cellular proliferation are expressed in cortical tubers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951479

28 October 2018

Cerebellar pathology in tuberous sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951479

28 October 2018

Cystlike white matter lesions in tuberous sclerosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951479

28 October 2018

Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951479

28 October 2018

Expression of ICAM-1, TNF-alpha, NF kappa B, and MAP kinase in tubers of the tuberous sclerosis complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/20633017

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pathology of tuberous sclerosis. Neuropathologic aspects

1 reference

https://pubmed.ncbi.nlm.nih.gov/20633017

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cellular neuropathology of tuberous sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20633017

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor

1 reference

https://pubmed.ncbi.nlm.nih.gov/20633017

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/20633017

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inflammatory processes in cortical tubers and subependymal giant cell tumors of tuberous sclerosis complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/20633017

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1111/J.1750-3639.2010.00416.X

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

ResearchGate publication ID

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