Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features (Q36231691)

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English	Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features	scientific article

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scholarly article

1 reference

Europe PubMed Central

12 August 2017

Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features (English)

1 reference

Europe PubMed Central

12 August 2017

author name string

Elizabeth Yuan

1

1 reference

Europe PubMed Central

12 August 2017

Peter T Tsai

2

1 reference

Europe PubMed Central

12 August 2017

Emily Greene-Colozzi

3

1 reference

Europe PubMed Central

12 August 2017

Mustafa Sahin

4

1 reference

Europe PubMed Central

12 August 2017

David J Kwiatkowski

5

1 reference

Europe PubMed Central

12 August 2017

Izabela A Malinowska

6

1 reference

Europe PubMed Central

12 August 2017

publication date

29 June 2012

1 reference

Europe PubMed Central

12 August 2017

Human Molecular Genetics

1 reference

Europe PubMed Central

12 August 2017

21

1 reference

Europe PubMed Central

12 August 2017

19

1 reference

Europe PubMed Central

12 August 2017

4286-4300

1 reference

Europe PubMed Central

12 August 2017

Genotype and cognitive phenotype of patients 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=3441124

1 October 2017

Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

Therapeutic value of prenatal rapamycin treatment in a mouse brain model of tuberous sclerosis complex.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

Phosphoproteomic analysis identifies Grb10 as an mTORC1 substrate that negatively regulates insulin signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

The mTOR-regulated phosphoproteome reveals a mechanism of mTORC1-mediated inhibition of growth factor signaling.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

Efficacy and safety of sirolimus in lymphangioleiomyomatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

mTOR links oncogenic signaling to tumor cell metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

Mechanisms of neurocognitive dysfunction and therapeutic considerations in tuberous sclerosis complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

mTOR: from growth signal integration to cancer, diabetes and ageing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of tuberous sclerosis complex.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

Behavioural phenotyping assays for mouse models of autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

Altered ultrasonic vocalizations in a tuberous sclerosis mouse model of autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

Biallelic TSC gene inactivation in tuberous sclerosis complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

The natural history of epilepsy in tuberous sclerosis complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

The psychopathologies of children and adolescents with tuberous sclerosis complex (TSC): a postal survey of UK families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

Behavioral and cognitive aspects of tuberous sclerosis complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

Behavioral profiles of inbred strains on novel olfactory, spatial and emotional tests for reference memory in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

Ablation of NF1 function in neurons induces abnormal development of cerebral cortex and reactive gliosis in the brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

Tsc2(+/-) mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

Disruption of the glucocorticoid receptor gene in the nervous system results in reduced anxiety

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

High rate of mosaicism in tuberous sclerosis complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

Generalized lacZ expression with the ROSA26 Cre reporter strain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

A review of the validity and variability of the elevated plus-maze as an animal model of anxiety

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

Genetic aspects of tuberous sclerosis in the west of Scotland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

1 October 2017

The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

22 September 2018

Neuropsychological attention skills and related behaviours in adults 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=3441124

22 September 2018

Psychiatric comorbid conditions in a clinic population of 241 patients 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=3441124

22 September 2018

Cognitive prognosis of patients with tuberous sclerosis complex.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

22 September 2018

Short and long-term motor skill learning in an accelerated rotarod training paradigm.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

22 September 2018

A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

22 September 2018

Astrocyte-specific TSC1 conditional knockout mice exhibit abnormal neuronal organization and seizures.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

22 September 2018

Selective nicotinic receptor consequences in APP(SWE) transgenic mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

22 September 2018

A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families 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=3441124

22 September 2018

Social amnesia in mice lacking the oxytocin gene.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

22 September 2018

Autism in tuberous sclerosis complex.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

22 September 2018

A prevalence study of autism in tuberous sclerosis.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441124

22 September 2018

Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS262

21 January 2018

A mouse model of cardiac rhabdomyoma generated by loss of Tsc1 in ventricular myocytes

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https://pubmed.ncbi.nlm.nih.gov/22752306

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unusually mild tuberous sclerosis phenotype is associated withTSC2R905Q mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/22752306

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Psychological profile of adults with tuberous sclerosis complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/22752306

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDS262

1 reference

Europe PubMed Central

12 August 2017

1 reference

Europe PubMed Central

12 August 2017

1 reference

Europe PubMed Central

12 August 2017

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