Proof of principle concept for the analysis and functional prediction of rare genetic variants in the CYP2C19 and CYP2D6 genes [0.03%]
卡巴氧和氯化氨苯喋啶对心房肌细胞的作用及机制研究
Inger Johansson,Yuchen Lu,Yitian Zhou et al.
Inger Johansson et al.
Background: Variations in pharmacogenes that regulate drug absorption, distribution, metabolism, and excretion (ADME) contribute to approximately 20-30% of interindividual differences in drug response. While many common v...
CLPP Gene Variants Causing Perrault Syndrome Type 3 in Han Chinese Families: A Genotype-Phenotype Study [0.03%]
汉族Perrault综合征家系中的CLPP基因突变及基因型表型分析
Xicui Long,Bingqian Yang,Wei Wang et al.
Xicui Long et al.
Background: Perrault syndrome is a rare autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and primary ovarian insufficiency (POI) secondary to ovarian dysgenesis. However, the mutation spectr...
Causal impact of genetically-determined fish and fish oil intake on epigenetic age acceleration and related serum markers [0.03%]
基因决定的鱼类和鱼油摄入对表观遗传学衰老加速及相关的血清标志物的影响
Paul Fabian,Gil Blander,Renee Deehan et al.
Paul Fabian et al.
Background: The interplay between diet and healthspan is a topic of great interest in biomedical research. Toward this end, consumption of marine omega-3 fatty acids is of particular significance, as reports suggest that ...
Identification of loci associated with women's reproductive traits and exploration of a shared genetic basis with obesity [0.03%]
鉴定与女性生殖特征相关的基因位点并探索其与肥胖的遗传基础共享性
Seong-Ah Kwon,Yoon Shin Cho
Seong-Ah Kwon
Background: The timing of menarche and menopause significantly affects women's health, with influences on cancer, cardiovascular disease, obesity, type 2 diabetes, and psychosocial problems. In addition, observational stu...
Genetic counseling in the Middle East: provider perspectives of patient attitudes and cultural challenges [0.03%]
中东的遗传咨询：提供者视角下的患者态度及文化挑战
Shruti Shenbagam,Alan Taylor,Ruchi Jain et al.
Shruti Shenbagam et al.
Genomic advancements have led to increased utilization of genetic testing in clinical care, yet barriers to accessing genetic counseling and genomics services remain, particularly in the Middle East where inherited diseases are highly preva...
BAX-mediated ammonia-driven cell death: a novel prognostic and therapeutic target in clear cell renal cell carcinoma [0.03%]
巴克斯介导的氨驱动细胞死亡：透明细胞肾细胞癌中的新型预后和治疗靶点
Xi Zhang,Zijie Yu,Lu Yin et al.
Xi Zhang et al.
Background: ccRCC (clear cell renal cell carcinoma) is characterized by metabolic reprogramming and immunosuppression, leading to poor clinical prognosis. In recent years, ammonia-related cell death has attracted increasi...
Exploring potential methylation markers for ovarian cancer from cervical scraping samples [0.03%]
探索宫颈刮片样本卵巢癌潜在甲基化标志物
Ju-Yin Lien,Lu Ann Hii,Po-Hsuan Su et al.
Ju-Yin Lien et al.
Background: Ovarian cancer has the highest mortality rate among gynecological cancers, making early detection crucial, as the five-year survival rate drops from 92% with early-stage diagnosis compared to 31% with late-sta...
On the aspiration to decode the impact of genomics on performance in power and endurance sports [0.03%]
基因组学对力量和耐力运动表现影响的探索
Martin Flück,Benedikt Gasser,Alain Dössegger
Martin Flück
A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies [0.03%]
伊朗肢体带肌营养不良症患者突变谱的调查研究报告
Sheyda Khalilian,Mohadeseh Fathi,Raheleh Tangestani et al.
Sheyda Khalilian et al.
Limb-girdle muscular dystrophies (LGMD) designate diverse types of muscular dystrophies that predominantly affect proximal skeletal muscles. Although both autosomal recessive and dominant forms exist, the majority of cases are inherited in ...
Targeted multi-layer analysis of PANoptosis-associated genes in the etiology of chronic kidney disease [0.03%]
靶向多层分析PANoptosis相关基因在慢性肾脏病病因学中的作用
Tong Li,Yingyue Zhang,Xingzhi Wang et al.
Tong Li et al.
Background: Previous studies have examined the cellular and molecular interactions between chronic kidney disease (CKD) and PANoptosis, yet the genetic underpinnings remain unclear. ...