Results 211 to 220 of about 36,428 (236)

Mild Expression in Familial TSC2

2004
BACKGROUND: TS is an autosomal dominant disorder characterized by hamartomata in various organs, including the brain, and caused by mutations in the TSC1 (9q34) or TSC2 (16p13) genes. The disease phenotype was found to be more severe in sporadic TSC2 patients (Dabora et al, 2001).
Badhwar, Amanpreet, D'agostino, Md, Jansen, Anna, Gobbi, G., Wilkinson, R., Melanson, Denis, Koenekoop, R., Gans, M., Li, G., Seni, H., Tampieri, Donatella, Andermann, Frederick, Dubeau, François, Pandolfo, M., Kwiatkowski, David, Andermann, E   +15 more
openaire   +1 more source

Neural Development in tsc2-Deficient Zebrafish

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
openaire   +1 more source

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

Lancet, The, 2003
Hongbing Zhang, Elizabeth P Henske, David J Kwiatkowski   +2 more
exaly  

TSC2 Mediates Cellular Energy Response to Control Cell Growth and Survival

Cell, 2003
Ken Inoki, Kun-Liang Guan
exaly  

PKD1/TSC2 contiguous gene deletion syndrome

Nephrology, 2017
Madhivanan Sundaram, Anil Kookana, Henry Duncan, Ravi Mathew   +3 more
openaire   +1 more source

Phosphorylation and Functional Inactivation of TSC2 by Erk

Cell, 2005
Li Ma, Zhenbang Chen, Hediye Erdjument-Bromage   +2 more
exaly  

Syndrome des gènes contigus TSC2/PKD1

Annales de Pathologie, 2007
Tarik Yadaden, Vincent Molinié, Raluca Ples, Thierry Lazure, Gérard Benoît, Laurent Yonneau, Sophie Ferlicot   +6 more
openaire   +1 more source

TSC2 regulates VEGF through mTOR-dependent and -independent pathways

Cancer Cell, 2003
James Brugarolas
exaly  

TSC2 Integrates Wnt and Energy Signals via a Coordinated Phosphorylation by AMPK and GSK3 to Regulate Cell Growth

Cell, 2006
Ken Inoki, Hongjiao Ouyang, Charlotta Lindvall   +2 more
exaly  

Regulation of TORC1 in Response to Amino Acid Starvation via Lysosomal Recruitment of TSC2

Cell, 2014
Constantinos Demetriades
exaly