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. - Wikidata - wikimedia - TriplyDB

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.

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.

http://www.wikidata.org/entity/Q34182980

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The neurology of mTOR Epilepsy related to developmental tumors and malformations of cortical development Mourning Dr. Alfred G. Knudson: the two-hit hypothesis, tumor suppressor genes, and the tuberous sclerosis complex Somatic mutation, genomic variation, and neurological disease Single-cell Tsc1 knockout during corticogenesis generates tuber-like lesions and reduces seizure threshold in mice Selective suppression of excessive GluN2C expression rescues early epilepsy in a tuberous sclerosis murine model.A circuitry and biochemical basis for tuberous sclerosis symptoms: from epilepsy to neurocognitive deficits TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review Understanding relationships between autism, intelligence, and epilepsy: a cross-disorder approach.The neural crest lineage as a driver of disease heterogeneity in Tuberous Sclerosis Complex and Lymphangioleiomyomatosis.mTOR signaling in epilepsy: insights from malformations of cortical development Enhanced GABAergic network and receptor function in pediatric cortical dysplasia Type IIB compared with Tuberous Sclerosis Complex.Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.Genotype and cognitive phenotype of patients with tuberous sclerosis complex.Novel Histopathological Patterns in Cortical Tubers of Epilepsy Surgery Patients with Tuberous Sclerosis Complex.Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features.Genetics of tuberous sclerosis complex: implications for clinical practice Mechanisms of neurocognitive dysfunction and therapeutic considerations in tuberous sclerosis complex.Evolving neurobiology of tuberous sclerosis complex.mTOR signaling and its roles in normal and abnormal brain development.Tuberous sclerosis complex: the past and the future.Tuberous sclerosis complex as a model disease for developing new therapeutics for epilepsy.Comparative analysis of Tsc1 and Tsc2 single and double radial glial cell mutants.A Tuber-ful Animal Model of Tuberous Sclerosis At Last?Mesenchymal Tumorigenesis Driven by TSC2 Haploinsufficiency Requires HMGA2 and Is Independent of mTOR Pathway Activation.Somatic activation of AKT3 causes hemispheric developmental brain malformations.Tuber-Less Models of Tuberous Sclerosis Still Provide Insights Into Epilepsy.Molecular rescue of Tsc1-ablated cortical tuber mice.Zebrafish model of tuberous sclerosis complex reveals cell-autonomous and non-cell-autonomous functions of mutant tuberin.Linking tuberous sclerosis complex, excessive mTOR signaling, and age-related neurodegeneration: a new association between TSC1 mutation and frontotemporal dementia.Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex.Heterozygous loss of TSC2 alters p53 signaling and human stem cell reprogramming.Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.Effect of Postmortem Interval and Years in Storage on RNA Quality of Tissue at a Repository of the NIH NeuroBioBank.Malformations of cortical development and epilepsy

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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.

http://www.wikidata.org/entity/Q34182980

description

2010 nî lūn-bûn

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2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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2010 թվականի հուլիսին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

Analysis of TSC cortical tuber ...... n these genes are rare events.

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Analysis of TSC cortical tuber ...... n these genes are rare events.

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Analysis of TSC cortical tuber ...... n these genes are rare events.

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type

label

Analysis of TSC cortical tuber ...... n these genes are rare events.

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Analysis of TSC cortical tuber ...... n these genes are rare events.

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Analysis of TSC cortical tuber ...... n these genes are rare events.

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prefLabel

Analysis of TSC cortical tuber ...... n these genes are rare events.

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Analysis of TSC cortical tuber ...... n these genes are rare events.

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Analysis of TSC cortical tuber ...... n these genes are rare events.

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J.1750-3639.2010.00416.X

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Brain Pathology

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Analysis of TSC cortical tuber ...... n these genes are rare events.

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Bruce E Taillon

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David J Kwiatkowski

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David N Franz

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Gary W Mathern

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Jennifer A Chan

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Pascal Bouffard

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Wei Qin

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P2860

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

Genome sequencing in microfabricated high-density picolitre reactors

Giant cells: contradiction to two-hit model of tuber formation?

Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

The tuberous sclerosis complex

Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions

Gene expression analysis of tuberous sclerosis complex cortical tubers reveals increased expression of adhesion and inflammatory factors.

Evidence that lymphangiomyomatosis is caused by TSC2 mutations: chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis.

Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis.

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

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1096-1105

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6

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20

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Harry V Vinters

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2010-07-13T00:00:00Z

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45198601

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20633017

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2951479

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