Molecular genetic basis of tuberous sclerosis complex: from bench to bedside (Q34552842)

3 August 2017

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Molecular genetic basis of tuberous sclerosis complex: from bench to bedside (English)

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3 August 2017

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Kit-Sing Au

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3 August 2017

Aimee T Williams

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2

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3 August 2017

Michael J Gambello

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3

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3 August 2017

Hope Northrup

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4

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3 August 2017

1 September 2004

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Journal of Child Neurology

3 August 2017

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3 August 2017

19

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3 August 2017

9

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3 August 2017

699-709

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Tuberous sclerosis: a genetic study

3 August 2017

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https://api.crossref.org/works/10.1177%2F08830738040190091101

Tuberous sclerosis complex in Olmsted County, Minnesota, 1950-1989.

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738040190091101

Genetic heterogeneity in tuberous sclerosis

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738040190091101

Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738040190091101

Identification and characterization of the tuberous sclerosis gene on chromosome 16

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738040190091101

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738040190091101

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/10.1177%2F08830738040190091101

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738040190091101

Simultaneous loss of hamartin and tuberin from the cerebrum, kidney and heart with tuberous sclerosis.

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738040190091101

Predisposition to renal carcinoma in the Eker rat is determined by germ-line mutation of the tuberous sclerosis 2 (TSC2) gene

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738040190091101

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738040190091101

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

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https://api.crossref.org/works/10.1177%2F08830738040190091101

Heterozygosity for the tuberous sclerosis complex (TSC) gene products results in increased astrocyte numbers and decreased p27-Kip1 expression in TSC2+/- cells.

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738040190091101

TSC1 and TSC2 tumor suppressors antagonize insulin signaling in cell growth

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738040190091101

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738040190091101

TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738040190091101

Tsc tumour suppressor proteins antagonize amino-acid-TOR signalling

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738040190091101

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738040190091101

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/10.1177%2F08830738040190091101

Rheb binds tuberous sclerosis complex 2 (TSC2) and promotes S6 kinase activation in a rapamycin- and farnesylation-dependent manner

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738040190091101

Insulin activation of Rheb, a mediator of mTOR/S6K/4E-BP signaling, is inhibited by TSC1 and 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738040190091101

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738040190091101

Inactivation of the tuberous sclerosis complex-1 and -2 gene products occurs by phosphoinositide 3-kinase/Akt-dependent and -independent phosphorylation of tuberin

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738040190091101

Rheb is a direct target of the tuberous sclerosis tumour suppressor proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738040190091101

Cell cycle-regulated phosphorylation of hamartin, the product of the tuberous sclerosis complex 1 gene, by cyclin-dependent kinase 1/cyclin B

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738040190091101

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738040190091101

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/10.1177%2F08830738040190091101

Tuberin, the tuberous sclerosis complex 2 tumor suppressor gene product, regulates Rho activation, cell adhesion and migration

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738040190091101

Regulation of cell morphology and adhesion by the tuberous sclerosis complex (TSC1/2) gene products in human kidney epithelial cells through increased E-cadherin/beta-catenin activity

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738040190091101

The tuberin-hamartin complex negatively regulates beta-catenin signaling activity

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738040190091101

The p38 and MK2 kinase cascade phosphorylates tuberin, the tuberous sclerosis 2 gene product, and enhances its interaction with 14-3-3

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738040190091101

Regulation of tuberous sclerosis complex (TSC) function by 14-3-3 proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738040190091101

Regulation of PCNA and CAF-1 expression by the two tuberous sclerosis gene products

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738040190091101

Rho GTPases as key transducers of proliferative signals in g1 cell cycle regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738040190091101

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/10.1177%2F08830738040190091101

Regulation of PDGF production and ERK activation by estrogen is associated withTSC2gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738040190091101

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/10.1177%2F08830738040190091101

Clonality of tuberous sclerosis harmatomas shown by non-random X-chromosome inactivation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738040190091101

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738040190091101

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738040190091101

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/10.1177%2F08830738040190091101

TSC1 and TSC2 deletions differ in size, preference for recombinatorial sequences, and location within the gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738040190091101

The genetic basis of tuberous sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738040190091101

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738040190091101

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738040190091101

Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738040190091101

Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738040190091101

Germ-line mosaicism in tuberous sclerosis: how common?

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738040190091101

Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738040190091101

A systematic genomewide linkage study in 353 sib pairs with schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738040190091101

10.1177/08830738040190091101

21 January 2018

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