Van Slegtenhorst, M; De Hoogt, R; Hermans, C; Nellist, M; Janssen, B; Verhoef, S; ... Kwiatkowski, DJ; + view all Van Slegtenhorst, M; De Hoogt, R; Hermans, C; Nellist, M; Janssen, B; Verhoef, S; Lindhout, D; Van Den Ouweland, A; Halley, D; Young, J; Burley, M; Jeremiah, S; Woodward, K; Nahmias, J; Fox, M; Ekong, R; Wolfe, J; Povey, S; Osborne, J; Snell, RG; Cheadle, JP; Jones, AC; Tachataki, M; Ravine, D; Sampson, JR; Reeve, MP; Richardson, P; Wilmer, F; Munro, C; Hawkins, TL; Sepp, T; Ali, JBM; Ward, S; Green, AJ; Yates, JRW; Short, MP; Haines, JH; Jozwiak, S; Kwiatkowska, J; Henske, EP; Kwiatkowski, DJ; - view fewer (1997) Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science , 277 (5327) 805 - 808. 10.1126/science.277.5327.805.
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Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the widespread development of distinctive tumors termed hamartomas. TSC-determining loci have been mapped to chromosomes 9q34 (TSC1) and 16p13 (TSC2). The TSC1 gene was identified from a 900-kilobase region containing at least 30 genes. The 8.6kilobase TSC1 transcript is widely expressed and encodes a protein of 130 kilodaltons (hamartin) that has homology to a putative yeast protein of unknown function. Thirty-two distinct mutations were identified in TSC1, 30 of which were truncating, and a single mutation (2105delAAAG) was seen in six apparently unrelated patients. In one of these six, a somatic mutation in the wild-type allale was found in a TSC- associated renal carcinoma, which suggests that hamartin acts as a tumor suppressor.
|Title:||Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Life Sciences > Biosciences (Division of)|
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