(Q34173640)

31 July 2017

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title

Tuberous sclerosis: from tubers to mTOR. (English)

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31 July 2017

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Kwiatkowski DJ

1

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31 July 2017

language of work or name

English

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publication date

1 January 2003

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31 July 2017

published in

Annals of Human Genetics

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31 July 2017

volume

67

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31 July 2017

issue

Pt 1

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31 July 2017

page(s)

87-96

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Malignant tumors of the kidney, brain, and soft tissues in children and young adults with the tuberous sclerosis complex

31 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

Oncogenic kinase signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

Molecular genetic advances in tuberous sclerosis

21 January 2018

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Identification and characterization of the tuberous sclerosis gene on chromosome 16

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

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/10.1046%2FJ.1469-1809.2003.00012.X

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/10.1046%2FJ.1469-1809.2003.00012.X

Mammalian TOR: a homeostatic ATP sensor

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

Phosphatidic acid-mediated mitogenic activation of mTOR signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

TSC1 and TSC2 tumor suppressors antagonize insulin signaling in cell growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

Regulation of translation initiation by FRAP/mTOR

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

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/10.1046%2FJ.1469-1809.2003.00012.X

Raptor, a binding partner of target of rapamycin (TOR), mediates TOR action

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

Amino acid sufficiency and mTOR regulate p70 S6 kinase and eIF-4E BP1 through a common effector mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

Tuberous sclerosis gene 2 product modulates transcription mediated by steroid hormone receptor family members

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

Tor proteins and protein phosphatase 2A reciprocally regulate Tap42 in controlling cell growth in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

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/10.1046%2FJ.1469-1809.2003.00012.X

A germ-line Tsc1 mutation causes tumor development and embryonic lethality that are similar, but not identical to, those caused by Tsc2 mutation in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

Retention of membrane-localized beta-catenin in cells lacking functional polycystin-1 and tuberin

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

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/10.1046%2FJ.1469-1809.2003.00012.X

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/10.1046%2FJ.1469-1809.2003.00012.X

Malignant transformation by a eukaryotic initiation factor subunit that binds to mRNA 5' cap

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

The tuberous sclerosis 2 gene product can localize to nuclei in a phosphorylation-dependent manner

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

The TSC1 gene product, hamartin, negatively regulates cell proliferation

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

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/10.1046%2FJ.1469-1809.2003.00012.X

A calmodulin binding site in the tuberous sclerosis 2 gene product is essential for regulation of transcription events and is altered by mutations linked to tuberous sclerosis and lymphangioleiomyomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

Protein phosphatase 2A interacts with the 70-kDa S6 kinase and is activated by inhibition of FKBP12-rapamycinassociated protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

Drosophila Tsc1 functions with Tsc2 to antagonize insulin signaling in regulating cell growth, cell proliferation, and organ size

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

Akt regulates growth by directly phosphorylating Tsc2

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

Tuberous sclerosis causing mutants of the TSC2 gene product affect proliferation and p27 expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

Inactivation of the cyclin-dependent kinase inhibitor p27 upon loss of the tuberous sclerosis complex gene-2

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

Identification of tuberin, the tuberous sclerosis-2 product. Tuberin possesses specific Rap1GAP activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1469-1809.2003.00012.X

10.1046/J.1469-1809.2003.00012.X

21 January 2018

Identifiers

DOI

1 reference

31 July 2017

1 reference