Tamim H Shaikh
Tamim H Shaikh
Purpose of review: Copy number variation (CNV) disorders arise from the dosage imbalance of one or more gene(s), resulting from deletions, duplications or other genomic rearrangements that lead to the loss or gain of gene...
Mitochondria and Alzheimer's Disease: the Role of Mitochondrial Genetic Variation [0.03%]
线粒体和阿尔茨海默病：线粒体遗传变异的作用
Perry G Ridge,John S K Kauwe
Perry G Ridge
Purpose of review: Alzheimer's disease (AD) is the most common form of dementia, affects an increasing number of people worldwide, has a rapidly increasing incidence, and is fatal. In the past several years, significant p...
Nicole A Restrepo,Jessica N Cooke Bailey
Nicole A Restrepo
Purpose of review: Individuals of African descent are at highest risk for developing primary open-angle glaucoma (POAG), a devastating disease and major contributor of blindness worldwide. Currently, there is a large dear...
Marianna Orlova,Erwin Schurr
Marianna Orlova
Purpose of review: The study of the genetic basis of tuberculosis pathogenesis has benefited from powerful technological innovations, a more structured definition of latent and clinical manifestations of the disease, and ...
Advances in the Understanding and Treatment of Mitochondrial Fatty Acid Oxidation Disorders [0.03%]
遗传性线粒体脂肪酸氧化障碍的诊疗进展
Eric S Goetzman
Eric S Goetzman
Purpose of review: This review focuses on advances made in the past three years with regards to understanding the mitochondrial fatty acid oxidation (FAO) pathway, the pathophysiological ramifications of genetic lesions i...
Using Mendelian Randomization studies to Assess Causality and Identify New Therapeutic Targets in Cardiovascular Medicine [0.03%]
运用孟德尔随机化研究评估因果关系并寻找心血管疾病的新治疗靶点
Wei Zhao,Jung-Jin Lee,Asif Rasheed et al.
Wei Zhao et al.
Integration of knowledge generated from genetic studies on intermediate biomarkers and CHD can provide a reliable approach to help assess causal pathways in coronary heart disease. Mendelian Randomization (MR) studies are a powerful tool to...
Metabolic Dysregulation in Amyotrophic Lateral Sclerosis: Challenges and Opportunities [0.03%]
肌萎缩侧索硬化代谢紊乱：挑战与机遇
Archi Joardar,Ernesto Manzo,Daniela C Zarnescu
Archi Joardar
Purpose of review: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease for which there is no cure and treatments are at best palliative. Several genes have been linked to ALS, which highlight de...
Sony Tuteja,Nita Limdi
Sony Tuteja
Purpose of review: Pharmacogenetics is an important component of precision medicine. Even within the genomic era, several challenges lie ahead in the road towards clinical implementation of pharmacogenetics in the clinic....
Jacqueline S Dron,Robert A Hegele
Jacqueline S Dron
Purpose of review: Plasma lipids, namely cholesterol and triglyceride, and lipoproteins, such as low-density lipoprotein (LDL) and high-density lipoprotein, serve numerous physiological roles. Perturbed levels of these tr...
William E Tidyman,Katherine A Rauen
William E Tidyman
The Ras/mitogen activated protein kinase (MAPK) pathway is essential in the regulation of cell cycle, differentiation, growth, cell senescence and apoptosis, all of which are critical to normal development. A class of neurodevelopmental dis...