Search results for "Association studies"
showing 6 items of 216 documents
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary …
2023
Funder: British Lung Foundation (BLF); doi: https://doi.org/10.13039/501100000351
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry
2017
PubMed ID: 29047407
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis
2012
Autosomal recessive renal tubular dysgenesis (RTD) is a severe disorder of renal tubular development characterized by early onset and persistent fetal anuria leading to oligohydramnios and the Potter sequence, associated with skull ossification defects. Early death occurs in most cases from anuria, pulmonary hypoplasia, and refractory arterial hypotension. The disease is linked to mutations in the genes encoding several components of the renin-angiotensin system (RAS): AGT (angiotensinogen), REN (renin), ACE (angiotensin-converting enzyme), and AGTR1 (angiotensin II receptor type 1). Here, we review the series of 54 distinct mutations identified in 48 unrelated families. Most of them are no…
Association of ACACB polymorphisms with obesity and diabetes
2011
El pdf del artículo es la versión pre-print.-- et al.
L'accumulation des protéines dans les graines de légumineuses
2017
The agroecological benefits of legumes and the renewed interest in the consumption of vegetable proteins stimulate researches on cognitive and applied aspects of seed biology aiming at optimizing protein composition of legume seeds. This article presents the state of knowledge on the genetic and environmental control of the accumulation of major proteins found in legume seeds, with a view to developing varieties with improved nutritional seed quality. It also shows how high-throughput genomics and post-genomics data, along with translational research aiming at transferring knowledge between model and crop species, can accelerate the identification of genes controlling the accumulation of st…
Common variants at VRK2 and TCF4 conferring risk of schizophrenia
2011
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field. Common sequence variants have recently joined rare structural polymorphisms as genetic factors with strong evidence for association with schizophrenia. Here we extend our previous genome-wide association study and meta-analysis (totalling 7 946 cases and 19 036 controls) by examining an expanded set of variants using an enlarged follow-up sample (up to 10 260 cases and 23 500 controls). In addition to previously reported alleles in the major histocompatibility complex region, near neurogranin (NRGN) and in an intron of transcription factor 4 (TCF4), we find two novel variants show…