메뉴 건너뛰기




Volumn 14, Issue 2, 2010, Pages 193-196

A c.1363C>T (p.R455X) nonsense mutation of RB1 gene in a southern Chinese retinoblastoma pedigree

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; CANCER PATIENT; CASE REPORT; CHILD; CHINESE; CONTROLLED STUDY; EXON; GENE; GENE SEQUENCE; GENETIC PREDISPOSITION; HETEROZYGOSITY; HUMAN; HUMAN CELL; MALE; NONSENSE MUTATION; PEDIGREE; PENETRANCE; RB1 GENE; RETINOBLASTOMA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA EXTRACTION;

EID: 77951002568     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2009.0162     Document Type: Article
Times cited : (4)

References (22)
  • 1
    • 24644501820 scopus 로고    scopus 로고
    • Retinoblastoma in the 20th century: Past success and future challenges the Weisenfeld lecture
    • Abramson DH (2005) Retinoblastoma in the 20th century: past success and future challenges the Weisenfeld lecture. Invest Ophthalmol Vis Sci 46:2683-2691.
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 2683-2691
    • Abramson, D.H.1
  • 3
    • 33748029478 scopus 로고    scopus 로고
    • Diagnosis and current management of retinoblastoma
    • DOI 10.1038/sj.onc.1209622, PII 1209622
    • Balmer A, Zografos L, Munier F (2006) Diagnosis and current management of retinoblastoma. Oncogene 25:5341-5349. (Pubitemid 44299096)
    • (2006) Oncogene , vol.25 , Issue.38 , pp. 5341-5349
    • Balmer, A.1    Zografos, L.2    Munier, F.3
  • 4
    • 27144491919 scopus 로고    scopus 로고
    • Constitutional and somatic RB1 mutation spectrum in nonfamilial unilateral and bilateral retinoblastoma in India
    • DOI 10.1089/gte.2005.9.200
    • Bamne MN, Ghule PN, Jose J, et al. (2005) Constitutional and somatic RB1 mutation spectrum in nonfamilial unilateral and bilateral retinoblastoma in India. Genet Test 9:200-211. (Pubitemid 41507752)
    • (2005) Genetic Testing , vol.9 , Issue.3 , pp. 200-211
    • Bamne, M.N.1    Ghule, P.N.2    Jose, J.3    Banavali, S.D.4    Kurkure, P.A.5    Amare, P.S.6
  • 6
    • 0033082394 scopus 로고    scopus 로고
    • RNA surveillance: Unforeseen consequences for gene expression, inherited genetic disorders and cancer
    • DOI 10.1016/S0168-9525(98)01658-8, PII S0168952598016588
    • Culbertson MR (1999) RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer. Trends Genet 15:74-80. (Pubitemid 29136645)
    • (1999) Trends in Genetics , vol.15 , Issue.2 , pp. 74-80
    • Culbertson, M.R.1
  • 7
    • 0023731010 scopus 로고
    • SV40 large tumor antigen forms a specific complex with the product of the retinoblastoma susceptibility gene
    • DeCaprio JA, Ludlow JW, Figge J, et al. (1988) SV40 large tumor antigen forms a specific complex with the product of the retinoblastoma susceptibility gene. Cell 54:275-283.
    • (1988) Cell , vol.54 , pp. 275-283
    • Decaprio, J.A.1    Ludlow, J.W.2    Figge, J.3
  • 8
    • 0033824472 scopus 로고    scopus 로고
    • Retinoblastoma: The disease, gene and protein provide critical leads to understand cancer
    • DiCiommo D, Gallie BL, Bremner R (2000) Retinoblastoma: the disease, gene and protein provide critical leads to understand cancer. Semin Cancer Biol 10:255-269.
    • (2000) Semin Cancer Biol , vol.10 , pp. 255-269
    • Diciommo, D.1    Gallie, B.L.2    Bremner, R.3
  • 10
    • 0026718136 scopus 로고
    • Detection of heterozygous mutations in the RB1 gene in retinoblastoma patients using single-strand conformation polymorphism analysis and polymerase chain reaction sequencing
    • Hogg A, Onadim Z, Baird PN, et al. (1992) Detection of heterozygous mutations in the RB1 gene in retinoblastoma patients using single-strand conformation polymorphism analysis and polymerase chain reaction sequencing. Oncogene 7:1445-1451.
    • (1992) Oncogene , vol.7 , pp. 1445-1451
    • Hogg, A.1    Onadim, Z.2    Baird, P.N.3
  • 11
    • 0025757141 scopus 로고
    • Rig encodes ribosomal protein S15. The primary structure of mammalian ribosomal protein S15
    • Kitagawa M, Takasawa S, Kikuchi N, et al. (1991) Rig encodes ribosomal protein S15. The primary structure of mammalian ribosomal protein S15. FEBS Lett 283:210-214.
    • (1991) FEBS Lett , vol.283 , pp. 210-214
    • Kitagawa, M.1    Takasawa, S.2    Kikuchi, N.3
  • 12
    • 50149084928 scopus 로고    scopus 로고
    • Tailoring to RB: Tumour suppressor status and therapeutic response
    • Knudsen ES, Knudsen KE (2008) Tailoring to RB: tumour suppressor status and therapeutic response. Nat Rev Cancer 8:714-724.
    • (2008) Nat Rev Cancer , vol.8 , pp. 714-724
    • Knudsen, E.S.1    Knudsen, K.E.2
  • 13
    • 67650443984 scopus 로고    scopus 로고
    • Frontiers in the management of retinoblastoma
    • Lin P, O'Brien JM (2009) Frontiers in the management of retinoblastoma. Am J Ophthalmol 148:192-198.
    • (2009) Am J Ophthalmol , vol.148 , pp. 192-198
    • Lin, P.1    O'Brien, J.M.2
  • 14
    • 0032882050 scopus 로고    scopus 로고
    • RB1 gene mutations in retinoblastoma
    • Lohmann DR (1999) RB1 gene mutations in retinoblastoma. Hum Mutat 14:283-288.
    • (1999) Hum Mutat , vol.14 , pp. 283-288
    • Lohmann, D.R.1
  • 18
    • 66749088102 scopus 로고    scopus 로고
    • Detection of mosaic RB1 mutations in families with retinoblastoma
    • Rushlow D, Piovesan B, Zhang K, et al. (2009) Detection of mosaic RB1 mutations in families with retinoblastoma. Hum Mutat 30:842-851.
    • (2009) Hum Mutat , vol.30 , pp. 842-851
    • Rushlow, D.1    Piovesan, B.2    Zhang, K.3
  • 22
    • 42049110799 scopus 로고    scopus 로고
    • Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression
    • DOI 10.1002/humu.20664
    • Zhang K, Nowak I, Rushlow D, et al. (2008) Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression. Hum Mutat 29:475-484. (Pubitemid 351536986)
    • (2008) Human Mutation , vol.29 , Issue.4 , pp. 475-484
    • Zhang, K.1    Nowak, I.2    Rushlow, D.3    Gallie, B.L.4    Lohmann, D.R.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.