Search results for "MUTATION"
showing 10 items of 2830 documents
Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry
2009
We conducted meta-analyses of genome-wide association studies (GWAS) for atrial fibrillation (AF) in participants from five community-based cohorts. Meta-analyses of 896 prevalent (15,768 referents) and 2,517 incident (21,337 referents) AF cases identified a novel locus for AF (ZFHX3, rs2106261, risk ratio [RR]=1.19; P=2.3×10−7), an association that was replicated in the German AF Network (odds ratio=1.44; P=1.6×10−11). Combining the discovery and replication results, rs2106261 was significantly associated with AF (RR=1.25; P=1.8×10−15).
Résistances aux herbicides : au Nord, c’étaient les Laiterons !
2016
SPEGESTAD; Contexte - Après des échecs de désherbage de laiteron épineux à l’aide d’herbicides inhibiteurs de l’ALS (groupe HRAC B) en culture d’endives, l’hypothèse de la présence d’une résistance à ces herbicides a été étudiée. étude - Des tests biologiques avec un herbicide du groupe B (rimsulfuron) ont été effectués sur des populations provenant de parcelles « à problème ». Le gène de l’ALS a également été séquencé afin de rechercher la présence de mutations causant une résistance aux herbicides inhibiteurs de l’ALS dans ces populations. résultats - Les tests biologiques ont montré l’existence d’une résistance au rimsulfuron dans les trois parcelles étudiées. Des mutations au codon 197 …
Models and methods for space and space-time interactions in complex point processes with applications on earthquakes
Temperature-dependent mutational robustness can explain faster molecular evolution at warm temperatures, affecting speciation rate and global pattern…
2016
Distribution of species across the Earth shows strong latitudinal and altitudinal gradients with the number of species decreasing with declining temperatures. While these patterns have been recognized for well over a century, the mechanisms generating and maintaining them have remained elusive. Here, we propose a mechanistic explanation for temperature-dependent rates of molecular evolution that can influence speciation rates and global biodiversity gradients. Our hypothesis is based on the effects of temperature and temperature-adaptation on stability of proteins and other catalytic biomolecules. First, due to the nature of physical forces between biomolecules and water, stability of biomo…
TP53 mutations and S-phase fraction but not DNA-ploidy are independent prognostic indicators in laryngeal squamous cell carcinoma
2005
To prospectively evaluate the prognostic significance of TP53, H-, K-, and N-Ras mutations, DNA-ploidy and S-phase fraction (SPF) in patients affected by locally advanced laryngeal squamous cell carcinoma (LSCC). Eight-one patients (median follow-up was 71 months) who underwent resective surgery for primary operable locally advanced LSCC were analyzed. Tumor DNA was screened for mutational analysis by PCR/SSCP and sequencing. DNA-ploidy and SPF were performed by flow cytometric analyses. Thirty-six patients (44%) had, at least, a mutation in the TP53 gene. Of them, 22% (8/36) had double mutations and 3% (1/36) had triple mutations. In total, 46 TP53 mutations were observed. The majority (41…
Subgroups of SF(ω) and the relation of almost containedness
2016
The relations of almost containedness and orthogonality in the lattice of groups of finitary permutations are studied in the paper. We define six cardinal numbers naturally corresponding to these relations by the standard scheme of P(ω)P(ω). We obtain some consistency results concerning these numbers and some versions of the Ramsey theorem.
Variants of human CLDN9 cause mild to profound hearing loss
2021
Hereditary deafness is clinically and genetically heterogeneous. We investigated deafness segregating as a recessive trait in two families. Audiological examinations revealed an asymmetric mild to profound hearing loss with childhood or adolescent onset. Exome sequencing of probands identified a homozygous c.475G>A;p.(Glu159Lys) variant of CLDN9 (NM_020982.4) in one family and a homozygous c.370_372dupATC;p.(Ile124dup) CLDN9 variant in an affected individual of a second family. Claudin 9 (CLDN9) is an integral membrane protein and constituent of epithelial bicellular tight junctions that form semi-permeable, paracellular barriers between inner ear perilymphatic and endolymphatic compartment…
RESCUE OF LRBA GENE EXPRESSION IN PRIMARY HUMAN FIBROBLASTS CHARACTERISED BY NONSENSE MUTATION c. 5047 (C>T).
2021
Primary immunodeficiencies (PIDs) are rare genetic diseases characterized by susceptibility to infections, increased risk of autoimmunity, hypogammaglobulinemia, and lymphoproliferative syndromes. PIDs are associated to genetic alterations in about 400 known genes, among which, mutations of the LRBA gene. LRBA gene encodes a widely expressed multi-domain protein with highly conserved BEACH domain, involved in regulation of endosomal trafficking, particularly endocytosis of ligand-activated receptors. It was reported that stop mutations affect this gene leading to the loss of the protein expression. Recently, we identified three Translational Readthrough Inducing Drug (TRID), that showed hig…
Regulation of type 1 fimbriae synthesis and biofilm formation by the transcriptional regulator LrhA of Escherichia coli
2005
Type 1 fimbriae ofEscherichia colifacilitate attachment to the host mucosa and promote biofilm formation on abiotic surfaces. The transcriptional regulator LrhA, which is known as a repressor of flagellar, motility and chemotaxis genes, regulates biofilm formation and expression of type 1 fimbriae. Whole-genome expression profiling revealed that inactivation oflrhAresults in an increased expression of structural components of type 1 fimbriae.In vitro, LrhA bound to the promoter regions of the twofimrecombinases (FimB and FimE) that catalyse the inversion of thefimApromoter, and to the invertible element itself. TranslationallacZfusions with these genes and quantification offimEtranscript le…
Pyrrethroid resistance in Varroa destructor: Investigating the role of mutations in the voltage-gated sodium channel
2022
Entre les majors amenaces de l'apicultura contemporània es troba el parasitisme de Varroa destructor, Anderson & Trueman (Acari: Varroidae). Aquest àcar ectoparàsit altament especialitzat s'alimenta directament de les pupes i els adults de l'abella mel·lífera europea, Apis mellifera L. (Hymenoptera: Apidae), la qual cosa debilita greument a les abelles i les indueix una immunosupressió que desemboca en brots d'infeccions preexistents o vectorizades pels àcars que comprometen la viabilitat de les colònies. El control dels àcars V. destructor es un problema agreujat pel limitat número de tractaments de control disponibles i l'evolució de la resistència a aquests en les poblacions d'àcars. Enc…