Concept

Human genetic variation

Related publications (265)

Host and pathogen genomics of severe pediatric infections

Infectious diseases are among the leading causes of human morbidity and mortality, with the greatest burden felt in the pediatric population. For any infectious disease, only a fraction of the exposed individuals develop clinical symptoms. These inter-indi ...

EPFL2016

The Environment is Everything That Isn't Me: Molecular Mechanisms and Evolutionary Dynamics of Insect Clocks in Variable Surroundings

Antonio Carlos Alves Meireles Filho

Circadian rhythms are oscillations in behavior, metabolism and physiology that have a period close to 24 h. These rhythms are controlled by an internal pacemaker that evolved under strong selective pressures imposed by environmental cyclical changes, mainl ...

Frontiers Media Sa2016

Alpha7 subunit of the nicotinergic acethylcholine receptor gene (CHRNA7) and perception of coherent motion in aging

Michael Herzog

Genetic variations of the alpha7 subunit of the nicotinergic acetylcholine receptor gene (CHRNA7) are linked to cognitive deficits in aging and schizophrenia. However, little is known about associations of the CHRNA7 gene with aged-related decline in visua ...

2016

Contribution of Genetic Background and Clinical Risk Factors to Low-Trauma Fractures in Human Immunodeficiency Virus (HIV)-Positive Persons: The Swiss HIV Cohort Study

Jacques Fellay, Istvan Bartha, Thomas Junier

Background. The impact of human genetic background on low-trauma fracture (LTF) risk has not been evaluated in the context of human immunodeficiency virus (HIV) and clinical LTF risk factors. Methods. In the general population, 6 common single-nucleotide p ...

Oxford University Press (OUP)2016

Modulation of AMPK's activity via genetic tools and food-derived compounds as a novel approach to Parkinson's disease treatment

Wojciech Janusz Bobela

Aging is considered as a major risk factor for Parkinsonâs disease (PD) and can be defined as a gradual decline in the ability of biological systems to efficiently renew structural and functional components, which may lead to perturbations in energetic h ...

EPFL2016

The Genetics of Transcription Factor DNA Binding Variation

Bart Deplancke, Vincent Roland Julien Gardeux, Daniel Alpern

Most complex trait-associated variants are located in non-coding regulatory regions of the genome, where they have been shown to disrupt transcription factor (TF)-DNA binding motifs. Variable TF-DNA interactions are therefore increasingly considered as key ...

Elsevier2016

Mitochondrial DNA Analyses Indicate High Diversity, Expansive Population Growth and High Genetic Connectivity of Vent Copepods (Dirivultidae) across Different Oceans

Stefan Jean Laurent

Communities in spatially fragmented deep-sea hydrothermal vents rich in polymetallic sulfides could soon face major disturbance events due to deep-sea mineral mining, such that unraveling patterns of gene flow between hydrothermal vent populations will be ...

Public Library of Science2016

Identifying mutations in Tunisian families with retinal dystrophy

Imen Habibi

Retinal dystrophies (RD) are a rare genetic disorder with high genetic heterogeneity. This study aimed at identifying disease-causing variants in fifteen consanguineous Tunisian families. Full ophthalmic examination was performed. Index patients were subje ...

Nature Publishing Group2016

Phenotypic heterogeneity driven by nutrient limitation promotes growth in fluctuating environments

Anders Meibom, Stéphane Laurent Escrig, Martin Ackermann

Most microorganisms live in environments where nutrients are limited and fluctuate over time. Cells respond to nutrient fluctuations by sensing and adapting their physiological state. Recent studies suggest phenotypic heterogeneity(1) in isogenic populatio ...

Nature Publishing Group2016

A Novel Recessive RPGRIP1 Mutation Causing Leber Congenital Amaurosis

Background: Leber congenital amaurosis is an early-onset childhood severe retinal dystrophy, of significant genetic heterogeneity. RPGRIP1 is ubiquitously expressed, but mutations in RPGRIP1 lead to a retina-restricted phenotype, such as Leber congenital a ...

Georg Thieme Verlag Kg2016

Graph Chatbot

Chat with Graph Search

Ask any question about EPFL courses, lectures, exercises, research, news, etc. or try the example questions below.

DISCLAIMER: The Graph Chatbot is not programmed to provide explicit or categorical answers to your questions. Rather, it transforms your questions into API requests that are distributed across the various IT services officially administered by EPFL. Its purpose is solely to collect and recommend relevant references to content that you can explore to help you answer your questions.