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European Journal of Pediatrics, 2002
Tuberous sclerosis (TSC) is a multisystem disease with manifestations in the central nervous system, skin, kidneys, heart, and other visceral organs. The development of TSC is associated with alterations within a gene on chromosome 9q34 ( TSC1) and a gene on chromosome 16p13 ( TSC2).
Langkau, Nicola +11 more
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Tuberous sclerosis (TSC) is a multisystem disease with manifestations in the central nervous system, skin, kidneys, heart, and other visceral organs. The development of TSC is associated with alterations within a gene on chromosome 9q34 ( TSC1) and a gene on chromosome 16p13 ( TSC2).
Langkau, Nicola +11 more
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Cerebral Cortex, 2020
Loss-of-function mutation in one of the tumor suppressor genes TSC1 or TSC2 is associated with several neurological and psychiatric diseases, including autism spectrum disorders (ASDs). As an imbalance between excitatory and inhibitory neurotransmission,
Davide Bassetti +3 more
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Loss-of-function mutation in one of the tumor suppressor genes TSC1 or TSC2 is associated with several neurological and psychiatric diseases, including autism spectrum disorders (ASDs). As an imbalance between excitatory and inhibitory neurotransmission,
Davide Bassetti +3 more
semanticscholar +1 more source
Neural Development in tsc2-Deficient Zebrafish [PDF]
, 2011 Abstract : This DOD-funded project Neural Development in tsc2-deficient zebrafish has made excellent progress over the first year of funding. We have essentially completed Task 1 of our Statement of Work with a focus on Neural Development. We have also begun Task 2 determining cell autonomous phenotypes. Using this zebrafish model of tuberous sclerosis
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TSC2: filling the GAP in the mTOR signaling pathway
Trends in Biochemical Sciences, 2004The tumor-suppressor proteins TSC1 and TSC2 are associated with an autosomal dominant disorder known as tuberous sclerosis complex (TSC). TSC1 and TSC2 function as a heterodimer to inhibit cell growth and proliferation. Another protein, mTOR (mammalian target of rapamycin), is regarded as a central controller of cell growth in response to growth ...
Yong Li +3 more
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Akt regulates growth by directly phosphorylating Tsc2
Nature Cell Biology, 2002The direct mechanism by which the serine/threonine kinase Akt (also known as protein kinase B (PKB)) regulates cell growth is unknown. Here, we report that Drosophila melanogaster Akt/PKB stimulates growth by phosphorylating the tuberous sclerosis complex 2 (Tsc2) tumour suppressor and inhibiting formation of a Tsc1-Tsc2 complex.
Tian Xu +2 more
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Phosphorylation and binding partner analysis of the TSC1–TSC2 complex
Biochemical and Biophysical Research Communications, 2005Tuberous sclerosis complex (TSC) is an autosomal dominant benign tumour syndrome caused by mutations to either the TSC1 or TSC2 tumour suppressor gene. The TSC1 and TSC2 gene products, TSC1 and TSC2, form a protein complex that integrates inputs from multiple signalling cascades to inactivate the small GTPase rheb, and thereby inhibit mTOR-dependent ...
Theo M. Luider +4 more
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2010
Publisher Summary The complexity and breadth of the signaling network upstream of the TSC1 (hamartin)–TSC2 (tuberin) complex is a testament to the importance of proper regulation of mTORC1 in the tight control over cellular growth and proliferation.
Brendan D. Manning, Christian C. Dibble
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Publisher Summary The complexity and breadth of the signaling network upstream of the TSC1 (hamartin)–TSC2 (tuberin) complex is a testament to the importance of proper regulation of mTORC1 in the tight control over cellular growth and proliferation.
Brendan D. Manning, Christian C. Dibble
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Syndrome des gènes contigus TSC2/PKD1
Annales de Pathologie, 2007The two major genes responsible for autosomal dominant polycystic kidney disease and complex tuberous sclerosis are located on chromosome 16 at position 16p13.3, separated by only a few nucleotides. A simultaneous loss of both genes has been termed "the TSC2/PKD1 contiguous gene syndrome". It has been described essentially in young children.
Sophie Ferlicot +6 more
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TSC2 Happloinsufficiency Leads to a Mutator Phenotype [PDF]
, 2007 Abstract : Tuberous Sclerosis Complex (TSC) patients develop tumors of the brain, kidney, skin and heart upon loss of either the TSC1 or TSC2 gene, and we are interested in elucidating early molecular events that contribute to loss of TSC2 and in understanding how TSC2 heterozygosity might contribute to this process.
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Measurements of TSC2 GAP Activity Toward Rheb
2006Tuberous sclerosis complex (TSC) is a genetic disease caused by mutation in either the tsc1 or tsc2 tumor suppressor genes. TSC1 and TSC2 protein form a physical and functional complex in vivo. Recent studies have demonstrated that TSC2 displays GTPase activating protein (GAP) activity specifically toward the small G protein Rheb (Ras homolog enriched ...
Yong Li +3 more
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