Lohmann DR. 1999. RB1 gene mutations in retinoblastoma. Hum Mutat 14:283-288.Lohmann DR (1999) RB1 gene mutations in retinoblastoma. Hum Mutat 14:283-288. doi: 10.1002/ (SICI)1098-1004(199910)14:4<283::AID-HUMU2>3.0.CO;2-J PMID: 10502774Lohmann, D. R., 1999 RB1 gene mutations...
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5 Dunn M,Philips PA,Zhu X,et al. Mutations in the RB1 gene and their effects on transcription.Mol Cell Biol,1989,(9)∶4596-4604. 6 Kato MV,Ishizaki K,Toguchida J,et al.Mutations in the retinoblastoma gene and their expression in somatic and tumor cells of patients with hereditary ret...
RB1protein is targeted by the transforming proteins of the DNA tumor viruses like adenoviral E1A and is functionally inactivated in most human tumor cells owing to mutations of either the RB1 gene itself or its upstream regulators (PMID: 22787429). 实验方案 Product Specific Protocols WB protocol...
patients:a T to A transition (TTC→TAC) at exon 10,a deletion G (GAT→AT) at exon 10,a A to T transition (AAG→ATG) at exon Mutations in RB1 gene are involving a few base pairs in this a result of such mutation,the normal function of RB is usually disrupted,and retinoblastoma ...
全称 retinoblastoma 1 别名 pRb, pp110, p110-RB1 , p110-RB1, p105-Rb 计算分子量 928 aa, 106 kDa 观测分子量 110 kDa GenBank蛋白编号 BC039060 基因名称 RB1 Gene ID (NCBI) 5925 RRID AB_2882741 偶联类型 Unconjugated 形式 Liquid 纯化方式 Protein A purification UNIPROT ID P06400 储存缓冲...
The RB1 gene, a member of the pocket family with p107 and p130, was the first known tumor suppressor. RB1protein is targeted by the transforming proteins of the DNA tumor viruses like adenoviral E1A and is functionally inactivated in most human tumor cells owing to mutations of either the...
【关键词】 视网膜母细胞瘤 基因 突变 RB1 Detection of heterozygous mutations of RB1 gene in patients with retinoblastoma 【Abstract】 Objective To study RB1 heterozygous mutations in patients with retinoblastoma.Methods Genomic DNA was used as a template for the PCR reaction to amplify all exons of...
there was no response to treatment. Next-generation sequencing analysis was performed showing a nonsense mutation, p.R552X inretinoblastoma 1(RB1). This nonsense variation will possibly lead to a truncated protein lacking the domain responsible for interaction with E2F, an event that will induce ce...