Search results for "Mutation."
showing 10 items of 2808 documents
Alignments of Time Intensity curves in sensory analysis
2006
International audience
Permutations of zero-sumsets in a finite vector space
2020
Abstract In this paper, we consider a finite-dimensional vector space đ« {{\mathcal{P}}} over the Galois field GF ⥠( p ) {\operatorname{GF}(p)} , with p being an odd prime, and the family ⏠k x {{\mathcal{B}}_{k}^{x}} of all k-sets of elements of đ« {\mathcal{P}} summing up to a given element x. The main result of the paper is the characterization, for x = 0 {x=0} , of the permutations of đ« {\mathcal{P}} inducing permutations of ⏠k 0 {{\mathcal{B}}_{k}^{0}} as the invertible linear mappings of the vector space đ« {\mathcal{P}} if p does not divide k, and as the invertible affinities of the affine space đ« {\mathcal{P}} if p divides k. The same question is answered also in the case where âŠ
Plasma PAF-acetylhydrolase in patients with coronary artery disease: results of a cross-sectional analysis.
2003
Inflammation underlies both onset and perpetuation of atherosclerosis. Plasma lipoproteins transport the platelet-activating factor-acetylhydrolase (PAF-AH) with potentially anti-inflammatory activities. Our aim was to determine whether PAF-AH activity was associated with inflammatory markers and with coronary artery disease (CAD). PAF-AH activity and a panel of inflammatory mediators were measured in plasma of 496 patients with CAD and in 477 controls; 276 patients presented with stable angina pectoris and 220 with acute coronary syndrome (ACS). Individuals within the highest quartile of PAF-AH activity had an 1.8-fold increase in CAD risk [95% confidence interval (CI), 1.01 to 3.2; P = 0.âŠ
Genetics of condition and sexual selection
2007
FM Tarmo Ketolan ekologian ja ympĂ€ristönhoidon vĂ€itöskirjan âGenetics of Condition and Sexual Selectionâ (Kunnon ja seksuaalivalinnan genetiikka) tarkastustilaisuus JyvĂ€skylĂ€n yliopistossa. VastavĂ€ittĂ€jĂ€nĂ€ professori Juha MerilĂ€ (Helsingin yliopisto) ja kustoksena dosentti Janne Kotiaho.Linkki vĂ€itöksen pdf-versioon tiedotteen lopussa.FM Tarmo Ketola havaitsi vĂ€itöstutkimuksessaan, ettĂ€ geneettisesti huonolaatuiset sirkkayksilöt pystyvĂ€t kĂ€yttĂ€mÀÀn vĂ€hemmĂ€n energiaa aktiviteetteihin kuin hyvĂ€laatuiset. Koska sisĂ€siitos lisĂ€si perusenergiankulutusta eli ruumiintoimintojen yllĂ€pitoon kulutettua energiaa, se heikensi yksilöiden kuntoa.â Aiemmin on oletettu, ettĂ€ huonolaatuisilla yksilöillĂ€ on âŠ
Rho GTPases in human breast tumours: expression and mutation analyses and correlation with clinical parameters
2002
In the present study, we addressed the question of a putative relevance of Rho proteins in tumour progression by analysing their expression on protein and mRNA level in breast tumours. We show that the level of RhoA, RhoB, Rac1 and Cdc42 protein is largely enhanced in all tumour samples analysed (n=15) as compared to normal tissues originating from the same individual. The same is true for 32P-ADP-ribosylation of Rho proteins which is catalysed by Clostridium botulinum exoenzyme C3. Also the amount of Rho-GDI and ERK2 as well as the level of overall 32P-GTP binding acvitity was tumour-specific elevated, yet to a lower extent than Rho proteins. Although the amount of Rho proteins was enhanceâŠ
Differential effects of oncogenic H- and K-ras expression on HT-29 colorectal carcinoma cell line.
2008
The Ras oncogene is mutated in about 30% of the human tumors and its mutations are always point mutations concerning codon 12, 13 and 61. These mutations cause in the proteins a reduced GTPase activity, so that they become constitutively active. In human cells there are three main isoforms of Ras (H, K, N-ras) which can trigger alternative pathways of signal trasduction. In order to investigate the effects of expression of different oncogenic Ras isoforms in colorectal carcinoma cells (HT-29), we obtained stable clones of HT-29 cells transfected with cDNAs codifying H-RasG12V and K-Ras G12V called respectively H12 and K12 and K-RasG13D called K13, under the control of an hormone-inducible pâŠ
Identification of a new nonsense mutation (Tyr129Stop) of the SRY gene in a newborn infant with XY sex-reversal.
2004
Point mutations and deletions of SRY gene have been described in several cases of XY gonadal dysgenesis. To date, most of these mutations affect the HMG domain of SRY which plays a central role in DNA binding activity of SRY. We report on a non-mosaic XY sex-reversed newborn girl (completely female external genitalia). The direct sequencing of SRY showed a new nonsense mutation in a codon of SRY gene flanking the 3' end of the HMG domain: a thymine is replaced by a guanine at position +387 in codon 129, resulting in the replacement of the amino acid tyrosine (TAT) by a stop codon (TAG). The new mutation of this patient provides further evidence to support the functional importance of the puâŠ
âCola uâ Nanuâ: an early nineteenth century case of disproportionate small stature
2022
This report considers Cola âuâ Nanuâ (Cola the Dwarf) (Fig. 1) who was depicted in 1840 by the famous nineteenth century Sicilian painter Michele Panebianco (1806â1873).
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=2.3Ă10â7), an association that was replicated in the German AF Network (odds ratio=1.44; P=1.6Ă10â11). Combining the discovery and replication results, rs2106261 was significantly associated with AF (RR=1.25; P=1.8Ă10â15).
RĂ©sistances aux herbicides : au Nord, câĂ©taient les Laiterons !
2016
SPEGESTAD; Contexte - AprĂšs des Ă©checs de dĂ©sherbage de laiteron Ă©pineux Ă lâaide dâherbicides inhibiteurs de lâALS (groupe HRAC B) en culture dâendives, lâhypothĂšse de la prĂ©sence dâune rĂ©sistance Ă ces herbicides a Ă©tĂ© Ă©tudiĂ©e. Ă©tude - Des tests biologiques avec un herbicide du groupe B (rimsulfuron) ont Ă©tĂ© effectuĂ©s sur des populations provenant de parcelles « Ă problĂšme ». Le gĂšne de lâALS a Ă©galement Ă©tĂ© sĂ©quencĂ© afin de rechercher la prĂ©sence de mutations causant une rĂ©sistance aux herbicides inhibiteurs de lâALS dans ces populations. rĂ©sultats - Les tests biologiques ont montrĂ© lâexistence dâune rĂ©sistance au rimsulfuron dans les trois parcelles Ă©tudiĂ©es. Des mutations au codon 197 âŠ