메뉴 건너뛰기




Volumn 64, Issue 5, 1999, Pages 1305-1315

Comprehensive mutation analysis of TSC1 and TSC2 - And phenotypic correlations in 150 families with tuberous sclerosis

Author keywords

[No Author keywords available]

Indexed keywords

DNA; NUCLEOTIDE;

EID: 0033365408     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302381     Document Type: Article
Times cited : (418)

References (47)
  • 1
    • 0029848852 scopus 로고    scopus 로고
    • Update on nomenclature for human gene mutations
    • Ad Hoc Committee on Mutation Nomenclature (1996) Update on nomenclature for human gene mutations. Hum Mutat 8:197-202
    • (1996) Hum Mutat , vol.8 , pp. 197-202
  • 2
    • 0031726093 scopus 로고    scopus 로고
    • Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis
    • Ali JBM, Sepp T, Ward S, Green AJ, Yates JRW (1998) Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis. J Med Genet 35:969-972
    • (1998) J Med Genet , vol.35 , pp. 969-972
    • Ali, J.B.M.1    Sepp, T.2    Ward, S.3    Green, A.J.4    Yates, J.R.W.5
  • 3
    • 0032560506 scopus 로고    scopus 로고
    • Mitogenic and oncogenic properties of the small G protein rap1b
    • Altschuler DL, Ribeiro Neto F (1998) Mitogenic and oncogenic properties of the small G protein rap1b. Proc Natl Acad Sci USA 95:7475-7479
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 7475-7479
    • Altschuler, D.L.1    Ribeiro Neto, F.2
  • 5
    • 7844233690 scopus 로고    scopus 로고
    • Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis
    • Beauchamp RL, Banwell A, McNamara P, Jacobsen M, Higgins E, Northrup H, Short P, et al (1998) Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis. Hum Mutat 12:408-416
    • (1998) Hum Mutat , vol.12 , pp. 408-416
    • Beauchamp, R.L.1    Banwell, A.2    McNamara, P.3    Jacobsen, M.4    Higgins, E.5    Northrup, H.6    Short, P.7
  • 6
    • 0028051871 scopus 로고
    • Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease - A contiguous gene syndrome
    • Brook-Carter P, Peral B, Ward CJ, Thompson P, Hughes J, Maheshwar M, Nellist M, et al (1994) Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease - a contiguous gene syndrome. Nat Genet 8: 328-332
    • (1994) Nat Genet , vol.8 , pp. 328-332
    • Brook-Carter, P.1    Peral, B.2    Ward, C.J.3    Thompson, P.4    Hughes, J.5    Maheshwar, M.6    Nellist, M.7
  • 8
    • 0027770784 scopus 로고
    • Identification and characterisation of the tuberous sclerosis gene on chromosome 16
    • European Chromosome 16 Tuberous Sclerosis Consortium (1993) Identification and characterisation of the tuberous sclerosis gene on chromosome 16. Cell 75:1305-1315
    • (1993) Cell , vol.75 , pp. 1305-1315
  • 13
    • 0030733022 scopus 로고    scopus 로고
    • Deletion of 11 amino acids in tuberin associated with severe tuberous sclerosis phenotypes: Evidence for a new essential domain in the first third of the protein
    • Jobert S, Bragado-Nilsson E, Samolyk D, Pedespan JM, Marchal C, Reichert S, Mallet J, et al (1997) Deletion of 11 amino acids in tuberin associated with severe tuberous sclerosis phenotypes: evidence for a new essential domain in the first third of the protein. Eur J Hum Genet 5:280-287
    • (1997) Eur J Hum Genet , vol.5 , pp. 280-287
    • Jobert, S.1    Bragado-Nilsson, E.2    Samolyk, D.3    Pedespan, J.M.4    Marchal, C.5    Reichert, S.6    Mallet, J.7
  • 14
    • 0030696314 scopus 로고    scopus 로고
    • Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis
    • Jones AC, Daniells CE, Snell RG, Tachataki M, Idziaszczk SA, Krawczak M, Sampson JR, et al (1997) Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Hum Mol Genet 6:2155-2161
    • (1997) Hum Mol Genet , vol.6 , pp. 2155-2161
    • Jones, A.C.1    Daniells, C.E.2    Snell, R.G.3    Tachataki, M.4    Idziaszczk, S.A.5    Krawczak, M.6    Sampson, J.R.7
  • 15
    • 0015043748 scopus 로고
    • Mutation and cancer: Statistical study of retinoblastoma
    • Knudson AG (1971) Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 68:820-823
    • (1971) Proc Natl Acad Sci USA , vol.68 , pp. 820-823
    • Knudson, A.G.1
  • 16
    • 0030929668 scopus 로고    scopus 로고
    • Transgenic rescue from embryonic lethality and renal carcinogenesis in the Eker rat model by introduction of a wild type TSC2 transgene
    • Kobayashi T, Mitani H, Takahashi RI, Hirabayashi M, Ueda M, Tamura H, Hino O (1997) Transgenic rescue from embryonic lethality and renal carcinogenesis in the Eker rat model by introduction of a wild type TSC2 transgene. Proc Natl Acad Sci USA 94:3990-3993
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 3990-3993
    • Kobayashi, T.1    Mitani, H.2    Takahashi, R.I.3    Hirabayashi, M.4    Ueda, M.5    Tamura, H.6    Hino, O.7
  • 20
    • 0032436490 scopus 로고    scopus 로고
    • Comprehensive mutational analysis of the TSC1 gene: Observations on frequency of mutation, associated features and non-penetrance
    • Kwiatkowska J, Jozwiak S, Hall F, Henske EP, Haines JL, McNamara P, Brasier J, et al (1998) Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features and non-penetrance. Ann Hum Genet 62:277-285
    • (1998) Ann Hum Genet , vol.62 , pp. 277-285
    • Kwiatkowska, J.1    Jozwiak, S.2    Hall, F.3    Henske, E.P.4    Haines, J.L.5    McNamara, P.6    Brasier, J.7
  • 21
    • 0030880172 scopus 로고    scopus 로고
    • A large TSC2 and PKD1 gene deletion is associated with renal and extrarenal signs of autosomal dominant polycystic kidney disease
    • Longa L, Scolari F, Brusco A, Carbonara C, Polidoro S, Valzorio B, Riegler P, et al (1997) A large TSC2 and PKD1 gene deletion is associated with renal and extrarenal signs of autosomal dominant polycystic kidney disease. Nephrol Dial Transplant 12:1900-1907
    • (1997) Nephrol Dial Transplant , vol.12 , pp. 1900-1907
    • Longa, L.1    Scolari, F.2    Brusco, A.3    Carbonara, C.4    Polidoro, S.5    Valzorio, B.6    Riegler, P.7
  • 22
    • 0030828764 scopus 로고    scopus 로고
    • The GAP related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis
    • Maheshwar MM, Cheadle JP, Jones AC, Myring J, Fryer AE, Harris PC, Sampson JR (1997) The GAP related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. Hum Mol Genet 6: 1991-1997
    • (1997) Hum Mol Genet , vol.6 , pp. 1991-1997
    • Maheshwar, M.M.1    Cheadle, J.P.2    Jones, A.C.3    Myring, J.4    Fryer, A.E.5    Harris, P.C.6    Sampson, J.R.7
  • 25
    • 0032213545 scopus 로고    scopus 로고
    • Hamartin, the product of the tuberous sclerosis (TSC1) gene, interacts with tuberin and appears to be localised to cytoplasmic vesicles
    • Plank TL, Yeung RS, Henske EP (1998) Hamartin, the product of the tuberous sclerosis (TSC1) gene, interacts with tuberin and appears to be localised to cytoplasmic vesicles. Cancer Res 58:4766-4770
    • (1998) Cancer Res , vol.58 , pp. 4766-4770
    • Plank, T.L.1    Yeung, R.S.2    Henske, E.P.3
  • 27
    • 0032438210 scopus 로고    scopus 로고
    • Tuberous sclerosis consensus conference: Revised clinical diagnostic criteria
    • Roach ES, Gomez MR, Northrup H (1998) Tuberous sclerosis consensus conference: revised clinical diagnostic criteria. J Child Neurol 13:624-628
    • (1998) J Child Neurol , vol.13 , pp. 624-628
    • Roach, E.S.1    Gomez, M.R.2    Northrup, H.3
  • 28
    • 0027051372 scopus 로고
    • Linkage investigation of three putative tuberous sclerosis determining loci on chromosomes 9q, 11q and 12q
    • Sampson JR, Janssen LAJ, Sandkuijl LA, Tuberous Sclerosis Collaborative Group (1992) Linkage investigation of three putative tuberous sclerosis determining loci on chromosomes 9q, 11q and 12q. J Med Genet 29:861-866
    • (1992) J Med Genet , vol.29 , pp. 861-866
    • Sampson, J.R.1    Janssen, L.A.J.2    Sandkuijl, L.A.3
  • 31
    • 0029826812 scopus 로고    scopus 로고
    • Loss of heterozygosity in tuberous sclerosis hamartomas
    • Sepp T, Green AJ, Yates JRW (1996) Loss of heterozygosity in tuberous sclerosis hamartomas. J Med Genet 33:962-964
    • (1996) J Med Genet , vol.33 , pp. 962-964
    • Sepp, T.1    Green, A.J.2    Yates, J.R.W.3
  • 32
    • 0031923762 scopus 로고    scopus 로고
    • Evidence that lymphangiomyomatosis is caused by TSC2 mutations: Chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis
    • Smolarek TA, Wessner LL, McCormack FX, Mylet JC, Menon AG, Henske EP (1998) Evidence that lymphangiomyomatosis is caused by TSC2 mutations: chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis. Am J Hum Genet 62:810-815
    • (1998) Am J Hum Genet , vol.62 , pp. 810-815
    • Smolarek, T.A.1    Wessner, L.L.2    McCormack, F.X.3    Mylet, J.C.4    Menon, A.G.5    Henske, E.P.6
  • 33
    • 0032580368 scopus 로고    scopus 로고
    • A role of the tuberous sclerosis gene-2 product during neuronal differentiation
    • Soucek T, Holzl G, Bernaschek G, Hengstschlager M (1998) A role of the tuberous sclerosis gene-2 product during neuronal differentiation. Oncogene 16:2197-2204
    • (1998) Oncogene , vol.16 , pp. 2197-2204
    • Soucek, T.1    Holzl, G.2    Bernaschek, G.3    Hengstschlager, M.4
  • 35
    • 0030767265 scopus 로고    scopus 로고
    • Mutations in the TSC2 gene: Analysis of the complete coding sequence using the protein truncation test (PTT)
    • van Bakel I, Sepp T, Ward S, Yates JRW, Green AJ (1997) Mutations in the TSC2 gene: analysis of the complete coding sequence using the protein truncation test (PTT). Hum Mol Genet 6:1409-1414
    • (1997) Hum Mol Genet , vol.6 , pp. 1409-1414
    • Van Bakel, I.1    Sepp, T.2    Ward, S.3    Yates, J.R.W.4    Green, A.J.5
  • 39
    • 85031583820 scopus 로고    scopus 로고
    • Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: No evidence for a genotype-phenotype correlation
    • in press
    • van Slegtenhorst M, Verhoef S, Tempelaars A, Bakker L, Wang Q, Wessels M, Bakker R, et al. Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for a genotype-phenotype correlation. J Med Genet (in press)
    • J Med Genet
    • Van Slegtenhorst, M.1    Verhoef, S.2    Tempelaars, A.3    Bakker, L.4    Wang, Q.5    Wessels, M.6    Bakker, R.7
  • 41
    • 19144372534 scopus 로고    scopus 로고
    • Identification of a nonsense mutation at the 5′ end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis
    • Vrtel R, Verhoef S, Bouman K, Maheshwar MM, Nellist M, van Essen AJ, Bakker PLG, et al (1996) Identification of a nonsense mutation at the 5′ end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis. J Med Genet 33:47-51
    • (1996) J Med Genet , vol.33 , pp. 47-51
    • Vrtel, R.1    Verhoef, S.2    Bouman, K.3    Maheshwar, M.M.4    Nellist, M.5    Van Essen, A.J.6    Bakker, P.L.G.7
  • 42
    • 0032241619 scopus 로고    scopus 로고
    • Identification of a large insertion and two novel point mutations (3671de18 and S1221X) in tuberous sclerosis complex (TSC) patients
    • Wang Q, Verhoef S, Tempelaars AMP, Bakker PLG, Vrtel R, Hesseling-Janssen ALW, Nellist M, et al (1998) Identification of a large insertion and two novel point mutations (3671de18 and S1221X) in tuberous sclerosis complex (TSC) patients. Hum Mutat 11:331-332
    • (1998) Hum Mutat , vol.11 , pp. 331-332
    • Wang, Q.1    Verhoef, S.2    Tempelaars, A.M.P.3    Bakker, P.L.G.4    Vrtel, R.5    Hesseling-Janssen, A.L.W.6    Nellist, M.7
  • 43
    • 0029021621 scopus 로고
    • Identification of tuberin, the tuberous sclerosis-2 product-tuberin possesses specific rap1GAP activity
    • Wienecke R, Konig A, DeClue JE (1995) Identification of tuberin, the tuberous sclerosis-2 product-tuberin possesses specific rap1GAP activity. J Biol Chem 270:16409-16414
    • (1995) J Biol Chem , vol.270 , pp. 16409-16414
    • Wienecke, R.1    Konig, A.2    DeClue, J.E.3
  • 45
    • 0030972969 scopus 로고    scopus 로고
    • The tuberous sclerosis 2 gene product functions as a rab5a GTPase activating protein (GAP) in modulating endocytosis
    • Xiao G-H, Shoarinejad F, Jin F, Golemis EA, Yeung RS (1997) The tuberous sclerosis 2 gene product functions as a rab5a GTPase activating protein (GAP) in modulating endocytosis. J Biol Chem 272:6097-6100
    • (1997) J Biol Chem , vol.272 , pp. 6097-6100
    • Xiao, G.-H.1    Shoarinejad, F.2    Jin, F.3    Golemis, E.A.4    Yeung, R.S.5
  • 47
    • 0031697622 scopus 로고    scopus 로고
    • A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients
    • Young JM, Burley MW, Jeremiah SJ, Jeganathan R, Ekong R, Osborne JP, Povey S (1998) A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients. Ann Hum Genet 62:203-215
    • (1998) Ann Hum Genet , vol.62 , pp. 203-215
    • Young, J.M.1    Burley, M.W.2    Jeremiah, S.J.3    Jeganathan, R.4    Ekong, R.5    Osborne, J.P.6    Povey, S.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.