Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence (Q35108646)

6 August 2017

title

Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence (English)

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7

Shane McKee

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ORCID Public Data File 2021

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author name string

Elaine A Dunlop

1

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Kayleigh M Dodd

2

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Stephen C Land

3

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Peter A Davies

4

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Nicole Martins

5

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Helen Stuart

6

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Chris Kingswood

8

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Anand Saggar

9

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Isabel Corderio

10

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Ana Maria Duarte Medeira

11

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Helen Kingston

12

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Julian R Sampson

13

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David Mark Davies

14

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Andrew R Tee

15

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publication date

16 March 2011

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European Journal of Human Genetics

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published in

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volume

19

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issue

7

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6 August 2017

page(s)

789-795

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describes a project that uses

6 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3137505/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137505

Mammalian target of rapamycin complex 1-mediated phosphorylation of eukaryotic initiation factor 4E-binding protein 1 requires multiple protein-protein interactions for substrate recognition

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137505

GENETICS. The Human Variome Project

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137505

A reliable cell-based assay for testing unclassified TSC2 gene variants

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137505

Missense mutations to the TSC1 gene cause tuberous sclerosis complex

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137505

Hypoxia-inducible factor 1alpha is regulated by the mammalian target of rapamycin (mTOR) via an mTOR signaling motif

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137505

Activity of TSC2 is inhibited by AKT-mediated phosphorylation and membrane partitioning

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137505

Tuberous sclerosis complex gene products, Tuberin and Hamartin, control mTOR signaling by acting as a GTPase-activating protein complex toward Rheb

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137505

Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137505

Insulin activation of Rheb, a mediator of mTOR/S6K/4E-BP signaling, is inhibited by TSC1 and 2

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137505

Rheb is a direct target of the tuberous sclerosis tumour suppressor proteins

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137505

TOS motif-mediated raptor binding regulates 4E-BP1 multisite phosphorylation and function

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137505

Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137505

Raptor, a binding partner of target of rapamycin (TOR), mediates TOR action

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137505

Identification of a conserved motif required for mTOR signaling

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137505

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137505

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137505

Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137505

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137505

Identification and characterization of the tuberous sclerosis gene on chromosome 16

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137505

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

9 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21407264

12 December 2020

inferred from PubMed ID database lookup

Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21407264

12 December 2020

inferred from PubMed ID database lookup

Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21407264

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/EJHG.2011.38

1 reference

6 August 2017

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6 August 2017

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