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Molecular genetic basis of tuberous sclerosis complex: from bench to bedside.

Au(Kit-Sing),Williams(Aimee T),Gambello(Mich… J Child Neurol 2004-12-22

...TSC2, can be mutated, resulting in the tuberous sclerosis complex phenotype. The protein products of the tuberous sclero...

Molecular pathogenesis of tuber formation in tuberous sclerosis complex.

Crino(Peter B) J Child Neurol 2004-12-22

...TSC2 (tuberin) genes. Tubers are cortical developmental malformations in patients with tuberous sclerosis complex that a...

Mouse models of tuberous sclerosis complex.

Scheidenhelm(Danielle K),Gutmann(David H) J Child Neurol 2004-12-22

...TSC2, result in a similar disease phenotype by disrupting the normal interaction of their protein products, hamartin and...

Pam and its ortholog highwire interact with and may negatively regulate the TSC…

Murthy(Vanishree),Han(Sangyeul),Beauchamp(Ro… J Biol Chem 2004-02-10

...Tsc2 complex in Drosophila and could negatively regulate Tsc1.Tsc2 activity. Based on genetic studies, HIW has been impl...

Estrogen-induced smooth muscle cell growth is regulated by tuberin and associat…

Finlay(Geraldine A),York(Brian),Karas(Richar… J Biol Chem 2004-07-29

...TSC2), a tumor suppressor gene, has been associated with a growth-promoting effect of E2. We hypothesized that tuberin, ...

Chromosomal anomalies on 6p25 in iris hypoplasia and Axenfeld-Rieger syndrome p…

Ekong(Rosemary),Jeremiah(Steve),Judah(David)… Hum Mutat 2004-11-08

...TSC2)-affected patients. We developed a microarray consisting of degenerate oligonucleotide primer (DOP)-PCR products fr...

Tuberous sclerosis in a 19-week fetus: immunohistochemical and molecular study …

Wei(Jianjun),Li(Peng),Chiriboga(Luis),Mizugu… Pediatr Dev Pathol 2003-03-04

Tuberous sclerosis complex (TSC) is a genetically heterogeneous disease caused by mutations of TSC1 or TSC2 genes. It in...

Role of the Tsc1-Tsc2 complex in signaling and transport across the cell membra…

Matsumoto(Sanae),Bandyopadhyay(Amitabha),Kwi… Genetics 2003-03-04

...tsc2 strains. Deletion of tsc1(+) or tsc2(+) also caused a defect in conjugation. When a limited number of the cells wer...

14-3-3beta binds to and negatively regulates the tuberous sclerosis complex 2 (…

Shumway(Stuart D),Li(Yong),Xiong(Yue) J Biol Chem 2003-03-04

TSC2, or tuberin, is the product of the tuberous sclerosis tumor suppressor gene TSC2 and acts downstream of the phospha...

Tuberin, the tuberous sclerosis complex 2 tumor suppressor gene product, regula…

Astrinidis(Aristotelis),Cash(Timothy P),Hunt… Oncogene 2003-01-06

...TSC2, both of which are tumor suppressor genes. Hamartin, the protein product of TSC1, was found to interact with the ez...

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