(Q44846704)

6 December 2017

title

Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex (English)

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6 December 2017

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5

Rosemary Ekong

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6 December 2017

author name string

Marianne Hoogeveen-Westerveld

1

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6 December 2017

Marjolein Wentink

2

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6 December 2017

Diana van den Heuvel

3

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6 December 2017

Melika Mozaffari

4

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6 December 2017

Sue Povey

6

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6 December 2017

Johan T den Dunnen

7

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6 December 2017

Kay Metcalfe

8

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6 December 2017

Stephanie Vallee

9

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6 December 2017

Stefan Krueger

10

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6 December 2017

JoAnn Bergoffen

11

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6 December 2017

Vandana Shashi

12

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6 December 2017

Frances Elmslie

13

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6 December 2017

David Kwiatkowski

14

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6 December 2017

Julian Sampson

15

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6 December 2017

Concha Vidales

16

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6 December 2017

Jacinta Dzarir

17

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6 December 2017

Javier Garcia-Planells

18

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6 December 2017

Kira Dies

19

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6 December 2017

Anneke Maat-Kievit

20

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6 December 2017

Ans van den Ouweland

21

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6 December 2017

Dicky Halley

22

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6 December 2017

Mark Nellist

23

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6 December 2017

publication date

8 March 2011

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6 December 2017

published in

Human Mutation

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6 December 2017

volume

32

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6 December 2017

issue

4

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6 December 2017

page(s)

424-435

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6 December 2017

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

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21451

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21451

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21451

The GTPase-activating protein Rap1GAP uses a catalytic asparagine

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21451

Identification and characterization of the tuberous sclerosis gene on chromosome 16

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21451

Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21451

Tuberous sclerosis complex, implication from a rare genetic disease to common cancer treatment

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21451

TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21451

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21451

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21451

Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21451

Hamartin variants that are frequent in focal dysplasias and cortical tubers have reduced tuberin binding and aberrant subcellular distribution in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21451

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21451

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21451

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21451

Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21451

TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21451

Missense mutations to the TSC1 gene cause tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21451

Predicting the effects of amino acid substitutions on protein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21451

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21451

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21451

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21451

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21451

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21451

Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21451

7 January 2021

Unusually mild tuberous sclerosis phenotype is associated withTSC2R905Q mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21451

7 January 2021

Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21451

7 January 2021

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://api.crossref.org/works/10.1002%2FHUMU.21451

7 January 2021

Alternative splicing of the tuberous sclerosis 2 (TSC2) gene in human and mouse tissues

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21451

7 January 2021

Identifiers

DOI

10.1002/HUMU.21451

1 reference

6 December 2017

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6 December 2017