Ara mostrant els elements 61-70 de 252
Brasó-Vives, Marina (Data de defensa: 2019-01-18)
La duplicació és el principal mecanisme de formació de nou material genètic i d'innovació funcional. Entendre com les duplicacions sorgeixen, evolucionen, co-evolucionen i engendren noves funcions és ...
Antonelli, Maria Carla (Data de defensa: 2021-03-24)
During the last decades the non-coding portion of the genome became subject of intense research due to its contribution to the complexity of biological and pathological processes. CircRNAs are a class ...
Martínez Marigorta, Urko (Data de defensa: 2012-11-12)
The aetiology of common diseases is shaped by the effects of genetic and environmental factors. Big efforts have been devoted to unravel the genetic basis of disease with the hope that it will help to ...
Valles Ibáñez, Guillem de (Data de defensa: 2016-11-16)
Human genomes have been found to harbor an unexpected number of ~100 loss-of-function (LoF) variants, with ~20 of them in an homozygous state, in most cases without a visible effect despite its potential ...
López Blanch, Laura (Data de defensa: 2021-04-30)
Neural microexons are the most conserved type of alternative splicing, suggesting a strong functional relevance. Consistently, mutation of their master regulators leads to dramatic neurodevelopmental ...
Farré Ramon, Xavier (Data de defensa: 2022-07-01)
Ageing is a very complex phenotype that has been widely studied, but is still largely unknown. Most of the studies focus on a single species, or on performing genome wide association studies in human ...
Trujillano Lidón, Daniel (Data de defensa: 2013-12-05)
Les tecnologies de seqüenciació de nova generació (NGS) han emergit com a una poderosa eina per al descobriment de mutacions causals i nous gens per a malalties Mendelianes, i estan tenint un ràpid ...
Carreras Sureda, Amado (Data de defensa: 2014-07-17)
Genome wide association studies (GWAS) have pointed out ORMDL3 gene as a risk factor for several proinflammatory and autoimmune diseases. The protein encoded by this gene belongs to a family of transmembrane ...
Pybus Oliveras, Marc (Data de defensa: 2015-09-28)
Detecting positive selection in genomic regions is a recurrent topic in human population genetics studies. Over the years, many positive selection tests have been implemented to highlight specific genomic ...
Sodaei, Reza (Data de defensa: 2020-05-22)
How do genomes generate different tissues, behaviours, individuals or species? We try to identify parts of the human transcriptome that we found only in a tissue. Then, we focus on inter-individual ...