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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 11 Apr 2015.

Tuberous sclerosis 1

Tumor Suppressor, TSC1
This gene encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin. Mutations in this gene have been associated with tuberous sclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009] (from NCBI)
Top mentioned proteins: TSC2, mTOR, CAN, mTORC1, Akt
Papers on Tumor Suppressor
The Tumor Suppressor CHD5 Forms a NuRD-type Chromatin Remodeling Complex.
New
Brodeur et al., In Biochem J, 01 May 2015
UNASSIGNED: Eukaryotic gene expression is developmentally regulated, in part by chromatin remodeling, and its dysregulation has been linked to cancer.
Intellectual abilities in tuberous sclerosis complex: risk factors and correlates from the Tuberous Sclerosis 2000 Study.
New
Yates et al., London, United Kingdom. In Psychol Med, 01 May 2015
BACKGROUND: Tuberous sclerosis complex (TSC) is associated with intellectual disability, but the risk pathways are poorly understood.
Clinical and Molecular Characterization of Patients with Heterozygous Mutations in Wilms Tumor Suppressor Gene 1.
New
Kemper et al., Aş Şanamayn, Syria. In Clin J Am Soc Nephrol, 27 Apr 2015
BACKGROUND AND OBJECTIVES: The Wilms tumor suppressor gene 1 (WT1) plays an essential role in urogenital and kidney development.
Mechanistic target of rapamycin (mTOR) in tuberous sclerosis complex-associated epilepsy.
Review
New
Curatolo, Roma, Italy. In Pediatr Neurol, 31 Mar 2015
BACKGROUND: Tuberous sclerosis complex is a multiorgan disease resulting from a mutation of one of two TSC genes.
HPV Carcinogenesis - An Identity Crisis in the Retinoblastoma Tumor Suppressor Pathway.
Review
New
Jones et al., Los Angeles, United States. In J Virol, 11 Mar 2015
Established models have suggested that human papillomaviruses target the Retinoblastoma (RB1) and TP53 tumor suppressor networks to usurp cellular replication, which drives carcinogenesis.
IGF-Binding Protein 2 - Oncogene or Tumor Suppressor?
Review
New
McCance et al., Belfast, United Kingdom. In Front Endocrinol (lausanne), Dec 2014
However, there are a number of conflicting reports in vitro and in vivo where IGFBP2 acts in a tumor suppressor manner.
mTOR Signaling in Epilepsy: Insights from Malformations of Cortical Development.
Review
New
Crino, Philadelphia, United States. In Cold Spring Harb Perspect Med, Dec 2014
Mutations in mTOR regulatory genes (e.g., TSC1, TSC2, AKT3, DEPDC5) have been associated with several focal MCD highly associated with epilepsy such as tuberous sclerosis complex (TSC), hemimegalencephaly (HME; brain malformation associated with dramatic enlargement of one brain hemisphere), and cortical dysplasia.
Regulation and Methylation of Tumor Suppressor MiR-124 by Androgen Receptor in Prostate Cancer Cells.
New
Gao et al., Shanghai, China. In Plos One, Dec 2014
UNASSIGNED: Prostate cancer (PCa) is the most frequently diagnosed cancer for men in the developed world.
MiRNA-615-5p Functions as a Tumor Suppressor in Pancreatic Ductal Adenocarcinoma by Targeting AKT2.
New
Chen et al., Beijing, China. In Plos One, Dec 2014
BACKGROUND: Aberrant microRNA (miRNA) expression is associated with tumor development.
Coordinated regulation of protein synthesis and degradation by mTORC1.
New
Impact
Manning et al., Boston, United States. In Nature, Oct 2014
Genetic activation of mTORC1 through loss of the tuberous sclerosis complex tumour suppressors, TSC1 or TSC2, or physiological activation of mTORC1 in response to growth factors or feeding resulted in increased NRF1 expression in cells and tissues.
Molecular genetics of clear-cell renal cell carcinoma.
New
Impact
Brugarolas, Dallas, United States. In J Clin Oncol, Jul 2014
Several additional tumor suppressor genes have been identified near the VHL gene, within a region that is frequently deleted in ccRCC on chromosome 3p: SETD2, BAP1, and PBRM1.
Spatial control of the TSC complex integrates insulin and nutrient regulation of mTORC1 at the lysosome.
New
Impact
Manning et al., Boston, United States. In Cell, Mar 2014
Insulin activates mTORC1 through the PI3K-Akt pathway, which inhibits the TSC1-TSC2-TBC1D7 complex (the TSC complex) to turn on Rheb, an essential activator of mTORC1.
mTORC1: turning off is just as important as turning on.
New
Impact
Hall et al., Basel, Switzerland. In Cell, Mar 2014
show that mTORC1 deactivation on the lysosome is determined by recruitment of its negative regulator, the tumor suppressor complex TSC1-TSC2.
The neural crest lineage as a driver of disease heterogeneity in Tuberous Sclerosis Complex and Lymphangioleiomyomatosis.
Review
Stanford et al., Ottawa, Canada. In Front Cell Dev Biol, 2013
The pathological basis of LAM is associated with Tuberous Sclerosis Complex (TSC), a multi-system disorder marked by low-grade tumors in the brain, kidneys, heart, eyes, lung and skin, arising from inherited or spontaneous germ-line mutations in either of the TSC1 or TSC2 genes.
Cumulative haploinsufficiency and triplosensitivity drive aneuploidy patterns and shape the cancer genome.
Impact
Elledge et al., Boston, United States. In Cell, 2013
Here, we develop Tumor Suppressor and Oncogene (TUSON) Explorer, a computational method that analyzes the patterns of mutational signatures in tumors and predicts the likelihood that any individual gene functions as a tumor suppressor (TSG) or oncogene (OG).
Genome sequencing identifies a basis for everolimus sensitivity.
Impact
GeneRIF
Solit et al., New York City, United States. In Science, 2012
Targeted sequencing revealed TSC1 mutations in about 8% of 109 additional bladder cancers examined, and TSC1 mutation correlated with everolimus sensitivity.
Tuberous sclerosis complex: genotype/phenotype correlation of retinal findings.
GeneRIF
Singh et al., Cleveland, United States. In Ophthalmology, 2012
TSC2 mutations are more frequent in patients with retinal findings than in those without retinal findings.
Identification of TSC1 and TSC2 mutations in Korean patients with tuberous sclerosis complex.
GeneRIF
Ki et al., Seoul, South Korea. In Pediatr Neurol, 2012
This study presented that the mutation rate of the TSC1 and TSC2 genes in Korean patients with tuberous sclerosis complex was 100%.
Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.
GeneRIF
Nellist et al., Rotterdam, Netherlands. In Hum Mutat, 2012
New data confirm finding that the N-terminal region of TSC1 is essential for TSC1 function.
Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex.
GeneRIF
Kwiatkowski et al., Boston, United States. In Proc Natl Acad Sci U S A, 2011
TSC brain model provides insights into the pathogenesis and organelle dysfunction of giant cells, as well as epilepsy control in patients with TSC
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