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Coexistence of tuberous sclerosis and Friedreich ataxia.

Walker(Melanie),Samii(Ali),Bird(Thomas) J Neurol Sci 2004-08-19

...TSC2 genes on chromosomes 9q33-34 or 16p13, respectively. Clinical manifestations can be quite variable but are primaril...

Morphology of cerebral lesions in the Eker rat model of tuberous sclerosis.

Wenzel(H Jürgen),Patel(Leena S),Robbins(Caro… Acta Neuropathol 2004-09-20

...TSC2 gene (TSC2+/-), provides a unique animal model in which to study the relationship between TSC cortical pathologies ...

Matrix proteoglycans and remodelling of interstitial lung tissue in lymphangiol…

Merrilees(Mervyn J),Hankin(Elyshia J),Black(… J Pathol 2004-07-19

...TSC2 (tuberin) gene mutations, in addition to thickening of interstitial tissues, loss of alveoli, and the development o...

Mouse models of human familial cancer syndromes.

Ward(Jerrold M),Devor-Henneman(Deborah E) Toxicol Pathol 2004-10-21

...TSC2, VHL, and XPA. These lines not only provide models for clinical disease and pathology, but also provide avenues to ...

Regulation of lifespan in Drosophila by modulation of genes in the TOR signalin…

Kapahi(Pankaj),Zid(Brian M),Harper(Tony),Kos… Curr Biol 2004-07-20

...TSC2 (tuberous sclerosis complex genes 1 and 2) act together to inhibit TOR (target of rapamycin), which mediates a sign...

Signaling pathways weigh in on decisions to make or break skeletal muscle.

Guttridge(Denis C) Curr Opin Clin Nutr Metab Care 2004-12-02

...Tsc2 was also identified as a novel Akt target, whose phosphorylation and inactivation by Akt may lead to an increase in...

Dysregulation of HIF and VEGF is a unifying feature of the familial hamartoma s…

Brugarolas(James),Kaelin(William G) Cancer Cell 2004-08-24

...TSC2 tumor suppressor complex. Mutations in LKB1 cause Peutz-Jeghers syndrome (PJS), and mutations in either TSC1 or TSC...

The LKB1 tumor suppressor negatively regulates mTOR signaling.

Shaw(Reuben J),Bardeesy(Nabeel),Manning(Bren… Cancer Cell 2004-08-24

Germline mutations in LKB1, TSC2, or PTEN tumor suppressor genes result in hamartomatous syndromes with shared tumor bio...

A patient with TSC1 germline mutation whose clinical phenotype was limited to l…

Sato(T),Seyama(K),Kumasaka(T),Fujii(H),Setog… J Intern Med 2004-09-16

...TSC2 (not TSC1) rather than a forme fruste of TSC carrying either of the TSC1 or TSC2 germline mutations.,Case presentat...

Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant.

Laass(Martin W),Spiegel(Miriam),Jauch(Anna),… Pediatr Nephrol 2004-12-15

...TSC2-PKD1 contiguous gene syndrome caused by chromosomal microdeletions disrupting both the TSC2 and PKD1 genes has been...

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