| Evidence | Deletion in Kidney Cystic Disease
- Longa L, Scolari F, Brusco A, Carbonara C, Polidoro S, Valzorio B, Riegler P, Migone N, Maiorca R A large TSC2 and PKD1 gene deletion is associated with renal andextrarenal signs of autosomal dominant polycystic kidney disease. Nephrol Dial Transplant 1997 Sep;12(9):1900-7.
- Sampson JR, Maheshwar MM, Aspinwall R, Thompson P, Cheadle JP, Ravine D, Roy S, Haan E, Bernstein J, Harris PC, Sampson JR, Maheshwar MM, Aspinwall R, Thompson P, Cheadle JP, Ravine D, Roy S, Haan E, Bernstein J, Harris PC Renal cystic disease in tuberous sclerosis: role of the polycystic kidneydisease 1 gene. Am J Hum Genet 1997 Oct;61(4):843-51.
- Brook-Carter PT, Peral B, Ward CJ, Thompson P, Hughes J, Maheshwar MM, Nellist M, Gamble V, Harris PC, Sampson JR Deletion of the TSC2 and PKD1 genes associated with severe infantilepolycystic kidney disease--a contiguous gene syndrome. Nat Genet 1994 Dec;8(4):328-32.
LOH in Kidney Neoplasms
- Parry L, Maynard JH, Patel A, Clifford SC, Morrissey C, Maher ER, Cheadle JP, Sampson JR Analysis of the TSC1 and TSC2 genes in sporadic renal cell carcinomas. Br J Cancer 2001 Oct 19;85(8):1226-30.
- Henske EP, Neumann HP, Scheithauer BW, Herbst EW, Short MP, Kwiatkowski DJ Loss of heterozygosity in the tuberous sclerosis (TSC2) region ofchromosome band 16p13 occurs in sporadic as well as TSC-associated renalangiomyolipomas. Genes Chromosomes Cancer 1995 Aug;13(4):295-8.
- Henske EP, Neumann HP, Scheithauer BW, Herbst EW, Short MP, Kwiatkowski DJ Loss of heterozygosity in the tuberous sclerosis (TSC2) region ofchromosome band 16p13 occurs in sporadic as well as TSC-associated renalangiomyolipomas. Genes Chromosomes Cancer 1995 Aug;13(4):295-8.
LOH in Nephrosclerosis
- Al-Saleem T, Wessner LL, Scheithauer BW, Patterson K, Roach ES, Dreyer SJ, Fujikawa K, Bjornsson J, Bernstein J, Henske EP Malignant tumors of the kidney, brain, and soft tissues in children andyoung adults with the tuberous sclerosis complex. Cancer 1998 Nov 15;83(10):2208-16.
- Henske EP, Scheithauer BW, Short MP, Wollmann R, Nahmias J, Hornigold N, van Slegtenhorst M, Welsh CT, Kwiatkowski DJ Allelic loss is frequent in tuberous sclerosis kidney lesions but rare inbrain lesions. Am J Hum Genet 1996 Aug;59(2):400-6.
Other key publications related to this gene
|
