(Q52654761)

5 May 2018

title

Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy. (English)

1 reference

5 May 2018

positive regulation of TORC1 signaling

main subject

1 reference

Gene Ontology release 2020-05-02

Gene Ontology ID

GO:1904263

negative regulation of TORC1 signaling

1 reference

Gene Ontology release 2020-05-02

Gene Ontology ID

GO:1904262

author name string

Melissa van Kranenburg

series ordinal

1

1 reference

5 May 2018

Marianne Hoogeveen-Westerveld

series ordinal

2

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5 May 2018

Mark Nellist

series ordinal

3

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5 May 2018

publication date

27 November 2014

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5 May 2018

published in

Human Mutation

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5 May 2018

volume

36

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5 May 2018

issue

2

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5 May 2018

page(s)

200-209

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5 May 2018

TORC1-dependent epilepsy caused by acute biallelic Tsc1 deletion in adult mice.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22723

A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22723

Ragulator is a GEF for the rag GTPases that signal amino acid levels to mTORC1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22723

Integrated genomic analyses of ovarian carcinoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22723

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22723

TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22723

Identification and characterization of the tuberous sclerosis gene on chromosome 16

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22723

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22723

Mutations of DEPDC5 cause autosomal dominant focal epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22723

Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22723

DEPDC5 mutations in genetic focal epilepsies of childhood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22723

mTOR signaling in growth control and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22723

Variation in the DEPDC5 locus is associated with progression to hepatocellular carcinoma in chronic hepatitis C virus carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22723

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.22723

DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22723

The Rag GTPases bind raptor and mediate amino acid signaling to mTORC1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22723

Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22723

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22723

21 January 2018

Identifiers

DOI

10.1002/HUMU.22723

1 reference

5 May 2018

1 reference

5 May 2018