Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins (Q40498907)

21 September 2017

Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins (English)

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21 September 2017

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5

Christopher J Howe

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21 September 2017

Ho Tin Wong

1

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21 September 2017

Deborah L McCartney

2

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21 September 2017

Julia C Lewis

3

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21 September 2017

Julian R Sampson

4

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21 September 2017

Petrus J de Vries

6

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21 September 2017

language of work or name

English

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publication date

25 September 2015

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Journal of Medical Genetics

21 September 2017

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21 September 2017

52

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21 September 2017

12

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21 September 2017

815-822

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Neurological and neuropsychiatric aspects of tuberous sclerosis complex

21 September 2017

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

Identification and characterization of the tuberous sclerosis gene on chromosome 16

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

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

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

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

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

The TSC1-TSC2 complex consists of multiple TSC1 and TSC2 subunits

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

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

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

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

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex.

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

The tuberous sclerosis complex.

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

Cortical tuber count: a biomarker indicating neurologic severity of tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

The tuberous sclerosis complex proteins--a GRIPP on cognition and neurodevelopment

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

Cognitive deficits in Tsc1+/- mice in the absence of cerebral lesions and seizures.

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

Sirolimus therapy for angiomyolipoma in tuberous sclerosis and sporadic lymphangioleiomyomatosis: a phase 2 trial.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

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

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

Genotype and psychological phenotype in tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

Genotype and cognitive phenotype of patients with tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

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/10.1136%2FJMEDGENET-2015-103154

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

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/10.1136%2FJMEDGENET-2015-103154

Neuropsychological attention skills and related behaviours in adults with tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

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/10.1136%2FJMEDGENET-2015-103154

Clustal W and Clustal X version 2.0

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

Crystal structure of the yeast TSC1 core domain and implications for tuberous sclerosis pathological mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

Conservation of structural and functional elements of TSC1 and TSC2: a bioinformatic comparison across animal models

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

Pam (Protein associated with Myc) functions as an E3 ubiquitin ligase and regulates TSC/mTOR signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

Heritability in the efficiency of nonsense-mediated mRNA decay in humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103154

10.1136/JMEDGENET-2015-103154

21 January 2018

Identifiers

DOI

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21 September 2017

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