mutation of either of two genes, TSC1 and TSC2, which code for the proteins hamartin and tuberin, respectively, with TSC2 mutations accounting for the majority...
50 KB (5,493 words) - 16:48, 12 July 2024
caused by mutations in the genes TSC1 and TSC2. TSC1 produces the protein hamartin. TSC2 produces the protein tuberin. This disorder presents with many benign...
32 KB (3,494 words) - 09:30, 12 May 2024
Tuberous sclerosis proteins 1 and 2, also known as TSC1 (hamartin) and TSC2 (tuberin), form a protein-complex. The encoding two genes are TSC1 and TSC2...
9 KB (1,075 words) - 08:43, 5 January 2024
Takemaru K, Kenerson HL, Moon RT, Yeung RS (February 2003). "The tuberin-hamartin complex negatively regulates beta-catenin signaling activity". The Journal...
17 KB (1,819 words) - 16:52, 22 May 2024
believed to be a tumor suppressor and is able to stimulate specific GTPases. Hamartin coded by the gene TSC1 functions as a facilitator of Hsp90 in chaperoning...
16 KB (1,872 words) - 13:02, 7 July 2024
mutations on either of two genes, TSC1 and TSC2, which encode for the proteins hamartin and tuberin respectively. These proteins act as tumour growth suppressors...
51 KB (5,410 words) - 00:55, 19 August 2024
Gonzalez-Agosti C, et al. (November 2002). "The TSC1 tumor suppressor hamartin interacts with neurofilament-L and possibly functions as a novel integrator...
20 KB (2,165 words) - 17:08, 13 September 2024
Alpha-galactosidase Fabry disease GLUT-1 Infantile hemangioma Hairless Papular atrichia Hamartin Tuberous sclerosis type 1 HFE Hemochromatosis HPS1 HPS1 Hermansky–Pudlak...
12 KB (108 words) - 02:46, 17 September 2022
Vinters HV, Johnson MW, Jay DG, Hall A (2000). "The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho". Nat....
9 KB (1,146 words) - 07:23, 15 January 2024
Takemaru K, Kenerson HL, Moon RT, Yeung RS (February 2003). "The tuberin-hamartin complex negatively regulates beta-catenin signaling activity". J. Biol...
17 KB (2,159 words) - 03:07, 11 July 2024
"Multicompartmental distribution of the tuberous sclerosis gene products, hamartin and tuberin". Archives of Biochemistry and Biophysics. 404 (2): 210–7....
6 KB (786 words) - 19:11, 3 December 2023
Blenis J (Aug 2003). "Tuberous sclerosis complex gene products, Tuberin and Hamartin, control mTOR signaling by acting as a GTPase-activating protein complex...
22 KB (2,661 words) - 15:23, 11 April 2024
PMID 11205743. Astrinidis A, Senapedis W, Henske EP (January 2006). "Hamartin, the tuberous sclerosis complex 1 gene product, interacts with polo-like...
16 KB (1,929 words) - 07:57, 4 January 2024
Takamura A, Nanba E, Higaki K, Ohno K (2007). "The TSC1 gene product hamartin interacts with NADE". Mol. Cell. Neurosci. 35 (1): 100–8. doi:10.1016/j...
6 KB (847 words) - 23:15, 4 September 2022
Dock7 has also been reported to interact with the TSC1-TSC2 (also known as hamartin-tuberin) complex, the normal function of which is disrupted in sufferers...
9 KB (1,200 words) - 01:05, 22 June 2024
(August 2003). "Tuberous sclerosis complex gene products, Tuberin and Hamartin, control mTOR signaling by acting as a GTPase-activating protein complex...
31 KB (3,257 words) - 18:47, 25 June 2024