Search results for "Mutation"
showing 10 items of 2830 documents
Testing for Lynch Syndrome in Endometrial Carcinoma: From Universal to Age-Selective MLH1 Methylation Analysis
2022
Simple Summary International guidelines recommend universal screening of endometrial carcinoma patients for Lynch syndrome, a hereditary cancer predisposition syndrome. Screening is based on mismatch repair protein immunohistochemistry and reflex MLH1 methylation analysis to exclude the likely sporadic cases of MMR deficiency. As sporadic MLH1 protein loss is common in endometrial carcinoma, the ability to target methylation testing would save efforts and costs. We discovered that limiting methylation testing to patients under 65 years would have significantly reduced the testing effort while maintaining a low false negative rate for MLH1-LS detection (0% and 3% in our clinic and registry-b…
On Prefix Normal Words
2011
We present a new class of binary words: the prefix normal words. They are defined by the property that for any given length $k$, no factor of length $k$ has more $a$'s than the prefix of the same length. These words arise in the context of indexing for jumbled pattern matching (a.k.a. permutation matching or Parikh vector matching), where the aim is to decide whether a string has a factor with a given multiplicity of characters, i.e., with a given Parikh vector. Using prefix normal words, we give the first non-trivial characterization of binary words having the same set of Parikh vectors of factors. We prove that the language of prefix normal words is not context-free and is strictly contai…
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 𝒫 {{\mathcal{P}}} over the Galois field GF ( p ) {\operatorname{GF}(p)} , with p being an odd prime, and the family ℬ k x {{\mathcal{B}}_{k}^{x}} of all k-sets of elements of 𝒫 {\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 𝒫 {\mathcal{P}} inducing permutations of ℬ k 0 {{\mathcal{B}}_{k}^{0}} as the invertible linear mappings of the vector space 𝒫 {\mathcal{P}} if p does not divide k, and as the invertible affinities of the affine space 𝒫 {\mathcal{P}} if p divides k. The same question is answered also in the case where …
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.…
Genetics of condition and sexual selection
2007
FM Tarmo Ketolan ekologian ja ympäristönhoidon väitöskirjan ”Genetics of Condition and Sexual Selection” (Kunnon ja seksuaalivalinnan genetiikka) tarkastustilaisuus Jyväskylän yliopistossa. Vastaväittäjänä professori Juha Merilä (Helsingin yliopisto) ja kustoksena dosentti Janne Kotiaho.Linkki väitöksen pdf-versioon tiedotteen lopussa.FM Tarmo Ketola havaitsi väitöstutkimuksessaan, että geneettisesti huonolaatuiset sirkkayksilöt pystyvät käyttämään vähemmän energiaa aktiviteetteihin kuin hyvälaatuiset. Koska sisäsiitos lisäsi perusenergiankulutusta eli ruumiintoimintojen ylläpitoon kulutettua energiaa, se heikensi yksilöiden kuntoa.– Aiemmin on oletettu, että huonolaatuisilla yksilöillä on …
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 enhance…
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 p…
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 pu…
“Cola u’ Nanu”: an early nineteenth century case of disproportionate small stature
2022
This report considers Cola “u’ Nanu” (Cola the Dwarf) (Fig. 1) who was depicted in 1840 by the famous nineteenth century Sicilian painter Michele Panebianco (1806–1873).