Crystal Humphries,Martin A Kohli
Crystal Humphries
Alzheimer disease (AD) is the most common dementia in the elderly, still without effective treatment. Early-onset AD (EOAD) is caused by mutations in the genes APP, PSEN1 and PSEN2. Genome-wide association studies have identified >20 late-o...
Stephanie A Stein,Kristin L Maloney,Toni I Pollin
Stephanie A Stein
Most diabetes is polygenic in etiology, with (type 1 diabetes, T1DM) or without (type 2 diabetes, T2DM) an autoimmune basis. Genetic counseling for diabetes generally focuses on providing empiric risk information based on family history and...
Mary Ann A DeMichele-Sweet,Robert A Sweet
Mary Ann A DeMichele-Sweet
Psychosis occurs in approximately half of patients with Alzheimer disease (AD with psychosis, AD+P). AD+P patients have more rapid cognitive decline, greater behavioral symptoms, and higher mortality than do AD patients without psychosis. S...
Late-Onset Alzheimer's Disease Genes and the Potentially Implicated Pathways [0.03%]
晚发型阿尔茨海默病基因及潜在的发病机制路径
Samantha L Rosenthal,M Ilyas Kamboh
Samantha L Rosenthal
Late-onset Alzheimer's disease (LOAD) is a devastating neurodegenerative disease with no effective treatment or cure. In addition to APOE, recent large genome-wide association studies have identified variation in over 20 loci that contribut...
Carlos Cruchaga,Mark T W Ebbert,John S K Kauwe
Carlos Cruchaga
The use of cerebrospinal fluid levels of Aβ42 and pTau181 as endophenotypes for genetic studies of Alzheimer's disease (AD) has led to successful identification of both rare and common AD risk variants. In addition, this approach has provi...
Heather A Wallace,Giovanni Bosco
Heather A Wallace
Condensins are conserved multi-subunit protein complexes that participate in eukaryotic genome organization. Well known for their role in mitotic chromosome condensation, condensins have recently emerged as integral components of diverse in...
Carlos Fernández-Hernando,Angel Baldán
Carlos Fernández-Hernando
MicroRNAs (miRNAs) regulate gene expression by binding to their targets and promoting RNA degradation and/or inhibiting protein translation. In recent years, miRNAs have revolutionized our understanding of gene regulatory networks, providin...
Michelle Zorrilla,Alexander N Yatsenko
Michelle Zorrilla
Infertility is a relatively common health condition, affecting nearly 7% of all couples. Clinically, it is a highly heterogeneous pathology with a complex etiology that includes environmental and genetic factors. It has been estimated that ...
Yu Liu,Mark R Chance
Yu Liu
High throughput technologies have been applied to investigate the underlying mechanisms of complex diseases, identify disease-associations and help to improve treatment. However it is challenging to derive biological insight from convention...
Maureen E Smith,Sharon Aufox
Maureen E Smith
The number of biobanks around the world has increased dramatically, owing in part, to the need for researchers to have access to large numbers of samples for genomic research. Policies for enrolling participants, returning research results ...