BAP1肿瘤易感综合征的英文名字是BAP1 tumor predisposition syndrome。基因解码表明:BAP1肿瘤易感综合征是一种罕见的遗传性肿瘤易感综合征,与BAP1基因的突变相关。BAP1基因位于人类染色体3p21.1区域,编码一种称为BRCA1相关蛋白1(BRCA1-associated protein 1)的蛋白质。 BAP1基因突变是BAP1肿瘤易感综合征的主要致病...
BAP1肿瘤易感综合征(BAP1 tumor predisposition syndrome)的发生与基因突变的关系BAP1肿瘤易感综合征是一种罕见的遗传性肿瘤易感综合征,与BAP1基因的突变相关。BAP1基因位于人类染色体3p21.1区域,编码一种称为BRCA1相关蛋白1(BRCA1-associated protein 1)的蛋白质。 BAP1基因突变是BAP1肿瘤易感综合征的主要致病...
BAP1肿瘤易感综合征的英文名字是BAP1 tumor predisposition syndrome。基因解码表明:BAP1肿瘤易感综合征是由BAP1基因的突变引起的。BAP1基因是一个抑癌基因,它编码了一个蛋白质,参与细胞的生长、分化和凋亡等过程。BAP1基因突变会导致蛋白质功能异常,进而增加患者患上多种肿瘤的风险,包括恶性间皮瘤、黑色素瘤、肾...
Pilarski R, Rai K, Cebulla C and Abdel-Rahman M: BAP1 Tumor Predisposition Syndrome. In: GeneReviews(R). Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH and Stephens K (eds). Seattle (WA), University of Washington, ...
BAP1 (BRCA1 Associated Protein 1) is a Protein Coding gene. Diseases associated with BAP1 include Tumor Predisposition Syndrome and Bap1 Tumor Predisposition Syndrome. Among its related pathways are DNA Double Strand Break Response and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific...
QuestionWhat are the prevalence and histology of nail abnormalities in patients with (BRCA1-associated protein) BAP1 tumor predisposition syndrome (TPDS)? FindingsIn this cohort study of 47 patients with BAP1 TPDS, a high number of patients had nail changes consistent with onycho...
Importantly, germline mutations in the BAP1 gene have been established as a novel tumor predisposition syndrome, conferring an increased risk of hereditary, early-onset cancers. Current treatment options for cancers with BAP1 alterations are limited to standard therapies. However, several therapeutic ...
21.Mashtalir N, Daou S, Barbour H, et al. Autodeubiquitination protects the tumor suppressor BAP1 from cytoplasmic sequestration mediated by the atypical ubiquitin ligase UBE2O. Mol Cell 2014;54:392-406. 22.Klebe S, Driml J, Na...
Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma. 应用 酶联免疫吸附测定(ELISA),免疫印迹(WB),免疫组织化学(IHC) 属性 保存缓冲液 -20°C, pH...
The importance of multidisciplinary approach in early detection of BAP1 tumor predisposition syndrome: clinical management and risk assessment. Clin. Med. Insights Oncol. 8, 37–47 (2014). Article CAS Google Scholar Harbour, J. W. et al. Frequent mutation of BAP1 in metastasizing uveal ...