(Q33321312)

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Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex (English)

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

tuberous sclerosis

1 reference

based on heuristic

inferred from title

tuberous sclerosis 1

1 reference

based on heuristic

inferred from title

author name string

Mark Nellist

1

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

Ozgür Sancak

2

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

Miriam Goedbloed

3

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

Alwin Adriaans

4

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

Marja Wessels

5

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

Anneke Maat-Kievit

6

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

Marieke Baars

7

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

Charlotte Dommering

8

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

Ans van den Ouweland

9

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

Dicky Halley

10

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

publication date

26 February 2008

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

BMC Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

9

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

10

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

https://scigraph.springernature.com/pub.10.1186/1471-2350-9-10

0 references

p27Kip1 localization depends on the tumor suppressor protein tuberin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2291454

21 June 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=2291454

21 June 2018

Phosphorylation and functional inactivation of TSC2 by Erk implications for tuberous sclerosis and cancer pathogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2291454

21 June 2018

Quantitative phosphorylation profiling of the ERK/p90 ribosomal S6 kinase-signaling cassette and its targets, the tuberous sclerosis tumor suppressors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2291454

21 June 2018

Fetal and neonatal cardiac tumors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2291454

21 June 2018

TSC2: filling the GAP in the mTOR signaling pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2291454

21 June 2018

Loss of Tsc1/Tsc2 activates mTOR and disrupts PI3K-Akt signaling through downregulation of PDGFR

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2291454

21 June 2018

Scansite 2.0: Proteome-wide prediction of cell signaling interactions using short sequence motifs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2291454

21 June 2018

TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2291454

21 June 2018

A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2291454

21 June 2018

TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation 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=2291454

21 June 2018

The spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2291454

21 June 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=2291454

21 June 2018

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2291454

21 June 2018

Tuberous Sclerosis Consensus Conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis Association

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2291454

21 June 2018

Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2291454

21 June 2018

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2291454

21 June 2018

Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2291454

21 June 2018

Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2291454

21 June 2018

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2291454

21 June 2018

Identification and characterization of the tuberous sclerosis gene on chromosome 16

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2291454

21 June 2018

Amino acid difference formula to help explain protein evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2291454

21 June 2018

Amino acid substitution matrices from protein blocks

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2291454

21 June 2018

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

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-9-10

21 January 2018

TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios

1 reference

https://pubmed.ncbi.nlm.nih.gov/18302728

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/18302728

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1471-2350-9-10

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

ResearchGate publication ID

0 references

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