Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation. (Q45205869)

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6 January 2020

title

Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation (English)

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6 January 2020

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4

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6 January 2020

Katarzyna Kotulska

7

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6 January 2020

6

Joanna Lewin-Kowalik

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6 January 2020

author name string

Jennifer A Chan

1

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6 January 2020

Hongbing Zhang

2

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6 January 2020

Penelope S Roberts

3

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6 January 2020

Grajkowska Wieslawa

5

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6 January 2020

David J Kwiatkowski

8

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6 January 2020

publication date

1 December 2004

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Journal of Neuropathology & Experimental Neurology

6 January 2020

published in

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6 January 2020

volume

63

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6 January 2020

issue

12

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6 January 2020

page(s)

1236-1242

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Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

6 January 2020

cites work

1 reference

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Identification and characterization of the tuberous sclerosis gene on chromosome 16

21 January 2018

1 reference

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

21 January 2018

1 reference

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Rhebbing up mTOR: New Insights on TSC1 and TSC2, and the Pathogenesis of Tuberous Sclerosis

21 January 2018

1 reference

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Phosphatidylinositol 3-kinase/Akt pathway regulates tuberous sclerosis tumor suppressor complex by phosphorylation of tuberin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F63.12.1236

TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F63.12.1236

Identification of the tuberous sclerosis complex-2 tumor suppressor gene product tuberin as a target of the phosphoinositide 3-kinase/akt pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F63.12.1236

Akt regulates growth by directly phosphorylating Tsc2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F63.12.1236

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F63.12.1236

Molecular genetic advances in tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F63.12.1236

Complete inactivation of the TSC2 gene leads to formation of hamartomas

21 January 2018

1 reference

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Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients.

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F63.12.1236

Loss of heterozygosity in tuberous sclerosis hamartomas.

21 January 2018

1 reference

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Pathogenesis of hereditary tumors: beyond the "two-hit" hypothesis

21 January 2018

1 reference

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Phosphorylation of tuberin as a novel mechanism for somatic inactivation of the tuberous sclerosis complex proteins in brain lesions

21 January 2018

1 reference

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A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F63.12.1236

Loss of Tsc1/Tsc2 activates mTOR and disrupts PI3K-Akt signaling through downregulation of PDGFR

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F63.12.1236

Renal angiomyolipomas from patients with sporadic lymphangiomyomatosis contain both neoplastic and non-neoplastic vascular structures

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F63.12.1236

Tuberin regulates p70 S6 kinase activation and ribosomal protein S6 phosphorylation. A role for the TSC2 tumor suppressor gene in pulmonary lymphangioleiomyomatosis (LAM)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F63.12.1236

Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F63.12.1236

Tuberous sclerosis complex tumor suppressor-mediated S6 kinase inhibition by phosphatidylinositide-3-OH kinase is mTOR independent

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F63.12.1236

Tsc2 null murine neuroepithelial cells are a model for human tuber giant cells, and show activation of an mTOR pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F63.12.1236

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/10.1093%2FJNEN%2F63.12.1236

Immunohistochemical characterization of subependymal giant cell astrocytomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F63.12.1236

Evidence of abnormal differentiation in giant cells of tuberous sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F63.12.1236

Loss of the TSC2 product tuberin in subependymal giant-cell tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F63.12.1236

Biological behavior and tumorigenesis of subependymal giant cell astrocytomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F63.12.1236

21 January 2018

Identifiers

DOI

10.1093/JNEN/63.12.1236

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15624760%20AND%20SRC:MED&resulttype=core&format=json

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6 January 2020

Fatcat ID

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mapped directly with Wikidata item

24 November 2022

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