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Concept

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Publications associées (31)

Mutations in the polyglutamylase geneTTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility

Hereditary retinal degenerations encompass a group of genetic diseases characterized by extreme clinical variability. Following next-generation sequencing and autozygome-based screening of patients presenting with a peculiar, recessive form of cone-dominat ...

Oxford University Press2016

Role of APOBEC3F Gene Variation in HIV-1 Disease Progression and Pneumocystis Pneumonia

Jacques Fellay, Christian Axel Wandall Thorball, Istvan Bartha

Human APOBEC3 cytidine deaminases are intrinsic resistance factors to HIV-1. However, HIV-1 encodes a viral infectivity factor (Vif) that degrades APOBEC3 proteins. In vitro APO-BEC3F (A3F) anti-HIV-1 activity is weaker than A3G but is partially resistant ...

Public Library of Science2016

The genetics of social hierarchies

Maria del Carmen Sandi Perez

The organization of individuals in social hierarchies is ubiquitous in social species. Although the evolution of dominance at the population level is constrained by its interactive character, selective breeding shows that dominance and subordination can be ...

2015

Association of PCK1 with Body Mass Index and Other Metabolic Features in Patients With Psychotropic Treatments

Pierre Magistretti

Weight gain is a major health problem among psychiatric populations. It implicates several receptors and hormones involved in energy balance and metabolism. Phosphoenolpyruvate carboxykinase 1 is a rate-controlling enzyme involved in gluconeogenesis, glyce ...

Lippincott, Williams & Wilkins2015

Catch Me if You Can: Adaptation from Standing Genetic Variation to a Moving Phenotypic Optimum

Sebastian Matuszewski

Adaptation lies at the heart of Darwinian evolution. Accordingly, numerous studies have tried to provide a formal framework for the description of the adaptive process. Of these, two complementary modeling approaches have emerged: While so-called adaptive- ...

2015

WFABC: a Wright-Fisher ABC-based approach for inferring effective population sizes and selection coefficients from time-sampled data

Jeffrey David Jensen, Matthieu Foll, Hyunjin Shim

With novel developments in sequencing technologies, time-sampled data are becoming more available and accessible. Naturally, there have been efforts in parallel to infer population genetic parameters from these data sets. Here, we compare and analyse four ...

Wiley-Blackwell2015

The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome

Jacques Fellay, Paul Jack Mc Laren, Istvan Bartha, Nimisha Chaturvedi

Sequencing projects have identified large numbers of rare stop-gain and frameshift variants in the human genome. As most of these are observed in the heterozygous state, they test a gene's tolerance to haploinsufficiency and dominant loss of function. We a ...

Public Library Science2015

Impact of HSD11B1 polymorphisms on BMI and components of the metabolic syndrome in patients receiving psychotropic treatments

Pierre Magistretti, Murielle Bochud

Background Metabolic syndrome (MetS) associated with psychiatric disorders and psychotropic treatments represents a major health issue. 11 beta-Hydroxysteroid dehydrogenase type 1 (11 beta-HSD1) is an enzyme that catalyzes tissue regeneration of active cor ...

Lippincott Williams & Wilkins2015

On the transition of genetic differentiation from isolation to panmixia: What we can learn from G(ST) and D

Séverine Vuilleumier Varisco

Population genetic differentiation characterizes the repartition of alleles among populations. It is commonly thought that genetic differentiation measures, such as G(ST) and D, should be near zero when allele frequencies are close to their expected value ...

Elsevier2014

Single locus of control in a tangible paper-based tabletop application: An Exploratory Study

Pierre Dillenbourg, Luis Pablo Prieto Santos, Yun Wen

Multiple loci of control is one of the main affordances of tangible tabletop UIs due to their capability for simultaneous manipulation. However, there is a tension between the efficiency given by simultaneous manipulation and the need to coordinate and ref ...

ACM2014

Adaptations to Climate-Mediated Selective Pressures in Sheep

Stéphane Joost, Sylvie Stucki

Following domestication, sheep (Ovis aries) have become essential farmed animals across the world through adaptation to a diverse range of environments and varied production systems. Climate-mediated selective pressure has shaped phenotypic variation and h ...

Oxford Univ Press2014