Concept
Mendelian inheritance
Related publications (58)
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles
Giovanna Ambrosini, Nicolas Jean Philippe Guex, Christian Iseli
Background: We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney,caused by de novo variants in the degron of AFF3. Mouse knock-ins and overexpre ...
BMC2024Impact of population size on early adaptation in rugged fitness landscapes
Anne-Florence Raphaëlle Bitbol, Richard Marie Servajean
Owing to stochastic fluctuations arising from finite population size, known as genetic drift, the ability of a population to explore a rugged fitness landscape depends on its size. In the weak mutation regime, while the mean steady-state fitness increases ...
ROYAL SOC2023Current challenges in understanding the role of enhancers in disease
Enhancers play a central role in the spatiotemporal control of gene expression and tend to work in a cell-type-specific manner. In addition, they are suggested to be major contributors to phenotypic variation, evolution and disease. There is growing eviden ...
NATURE PORTFOLIO2022Systematic screening of viral and human genetic variation identifies antiretroviral resistance and immune escape link
Jacques Fellay, Christian Axel Wandall Thorball
Background: Considering the remaining threat of drug-resistantmutations (DRMs) to antiretroviral treatment (ART) efficacy, we investigated how the selective pressure of human leukocyte antigen (HLA)-restricted cytotoxic T lymphocytes drives certain DRMs' e ...
ELIFE SCIENCES PUBLICATIONS LTD2021