Revolutionizing personalized cancer treatment: the synergy of next-generation sequencing and CRISPR/Cas9 [0.03%]
下一代测序和CRISPR/Cas9技术在个性化癌症治疗中的协同应用展望
Muniba Mahmood,Izza Taufiq,Sana Mazhar et al.
Muniba Mahmood et al.
In the context of cancer heterogeneity, the synergistic action of next-generation sequencing (NGS) and CRISPR/Cas9 plays a promising role in the personalized treatment of cancer. NGS enables high-throughput genomic profiling of tumors and p...
Assessment of ADRB1 polymorphism in patients with acute coronary syndrome treated with ticagrelor and aspirin [0.03%]
替格瑞洛联合阿司匹林治疗急性冠脉综合征患者ADRB1多态性的评估研究
Xiang Zhang,Qi Yuan,Dawei Zhang
Xiang Zhang
Background: This study investigated the influence of ADRB1 gene rs1801253 polymorphism on the treatment response of ticagrelor and aspirin in patients with acute coronary syndrome (ACS). Methods: Genetic typing was detected by Sanger sequen...
A novel TGFβR2 splice variant in patient with aortic aneurysm and family history for aortic dissection: a case report [0.03%]
主动脉瘤患者的TGFβR2新型剪切变异体及其家族主动脉夹层遗传史：病例报告
Cecilia Vecoli,Ilenia Foffa,Simona Vittorini et al.
Cecilia Vecoli et al.
We report the clinical presentation and genetic screening of a 31-year-old man with dilatation of the aortic root and ascending aorta and a positive family history for aortic dissection and sudden death. A novel heterozygous variant in a sp...
The genetic landscape of chromosomal aberrations in 3776 Vietnamese fetuses with clinical anomalies during pregnancy [0.03%]
越南孕妇产前临床异常的3776个胎儿染色体畸变的遗传图谱
Danh-Cuong Tran,Minh Ngoc Phan,Hong-Thuy Thi Dao et al.
Danh-Cuong Tran et al.
Background: Copy number variation sequencing (CNV-seq) is a powerful tool to discover structural genomic variation, but limitations associated with its retrospective study design and inadequate diversity of participants can be impractical f...
Gene expression profiling of peripheral blood in patients with steroid-induced osteonecrosis of the femoral head [0.03%]
糖皮质激素诱导的股骨头坏死患者外周血基因表达谱分析
Cong-Min Zhang,Yuan Wei,Xue-Ke Tian et al.
Cong-Min Zhang et al.
Aim: Steroid-induced osteonecrosis of the femoral head (SONFH) is a severe complication following glucocorticoid therapy. This study aimed to identify the differential mRNA expression and investigate the molecular mechanisms of SONFH. Mater...
A survey on awareness, knowledge and preferences toward genetic testing among the United States general public [0.03%]
美国公众对基因检测的认知、知识和偏好的调查研究
Shahariar Mohammed Fahim,Salisa C Westrick,Jingjing Qian et al.
Shahariar Mohammed Fahim et al.
Aim: To understand awareness, knowledge and preferences regarding genetic testing among the USA general public. Methods: A cross-sectional online survey using a Qualtrics Panel. Results: Among 1600 respondents, 545 (34%) were White, 411 (26...
Five genes identified as prognostic markers for colorectal cancer through the integration of genome-wide association study and expression quantitative trait loci data [0.03%]
通过整合全基因组关联研究和表达数量性状位点数据识别出五个预后结直肠癌的标志物基因
Cuizhen Zhang,Wenjie Huang,Wanjie Niu et al.
Cuizhen Zhang et al.
Background: Colorectal cancer (CRC) is a prominent form of cancer globally, ranking second in terms of prevalence and serving as a leading cause of cancer-related deaths, but the underlying biological interpretation remains largely unknown....
Dabrafenib and steroids for the treatment of Erdheim-Chester disease with extensive CNS involvement: a case report [0.03%]
达拉菲尼和类固醇在伴有广泛中枢神经系统受累的 Erdheim Chester 病治疗中的应用：一例病例报告
Carlen A Yuen,Silin Bao,Mya Sandi Aung et al.
Carlen A Yuen et al.
Erdheim-Chester disease (ECD) is an exceedingly rare non-Langerhans cell CD68+ CD1a- S100- histiocytic multi-organ disease. Diagnosis of ECD is often delayed due to non-specific radiographic findings and heterogeneous lesional tissue. Incre...
Case Reports
Personalized medicine. 2024;21(2):71-78. DOI:10.2217/pme-2023-0137 2024
Helping patients understand multi-cancer early detection tests: a scoping review [0.03%]
帮助患者理解多癌症早期检测测试：一项范围综述
Martha Paige Greene,Jason L Vassy
Martha Paige Greene
Multi-cancer early detection tests are emerging as a revolutionary technology for the early detection of dozens of cancers from a single blood sample, including cancers without proven screening methods. However, they also come with challeng...