(Q82915005)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22161988%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex (English)

1 reference

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18 January 2020

1 reference

1 reference

2

Rosemary Ekong

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18 January 2020

author name string

Marianne Hoogeveen-Westerveld

1

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18 January 2020

Sue Povey

3

1 reference

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18 January 2020

Izabela Karbassi

4

1 reference

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18 January 2020

Sat Dev Batish

5

1 reference

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18 January 2020

Johan T den Dunnen

6

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18 January 2020

Agnies van Eeghen

7

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18 January 2020

Elizabeth Thiele

8

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18 January 2020

Karin Mayer

9

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18 January 2020

Kira Dies

10

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18 January 2020

Li Wen

11

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18 January 2020

Catherine Thompson

12

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18 January 2020

Steven P Sparagana

13

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18 January 2020

Peter Davies

14

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18 January 2020

Cora Aalfs

15

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18 January 2020

Ans van den Ouweland

16

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18 January 2020

Dicky Halley

17

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18 January 2020

Mark Nellist

18

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18 January 2020

publication date

17 January 2012

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18 January 2020

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18 January 2020

volume

33

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18 January 2020

issue

3

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18 January 2020

page(s)

476-479

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The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination

18 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22007

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22007

7 January 2021

TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22007

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22007

7 January 2021

Identification and characterization of the tuberous sclerosis gene on chromosome 16

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22007

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22007

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22007

7 January 2021

The TSC1-TSC2 complex: a molecular switchboard controlling cell growth

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22007

7 January 2021

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://api.crossref.org/works/10.1002%2FHUMU.22007

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22007

7 January 2021

Missense mutations to the TSC1 gene cause tuberous sclerosis complex

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22007

7 January 2021

Predicting the effects of amino acid substitutions on protein function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22007

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22007

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.22007

7 January 2021

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22007

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22007

7 January 2021

Identifiers

DOI

10.1002/HUMU.22007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22161988%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference