Search results for "Genotype"

A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population.

2002

Myoadenylate deaminase deficiency is the most common metabolic disorder of skeletal muscle in the Caucasian population, affecting approximately 2% of all individuals. Although most deficient subjects are asymptomatic, some suffer from exercise-induced myalgia suggesting a causal relationship between a lack of enzyme activity and muscle function. In addition, carriers of this derangement in purine nucleotide catabolism may have an adaptive advantage related to clinical outcome in heart disease. The molecular basis of myoadenylate deaminase deficiency in Caucasians has been attributed to a single mutant allele characterized by double C to T transitions at nucleotides +34 and +143 in mRNA enco…

Has long-term metal exposure induced changes in life history traits and genetic diversity of the enchytraeid worm Cognettia sphagnetorum (Vejd.)?

2004

We studied whether long-term metal exposure has affected life history traits, population growth patterns and genetic diversity of the asexual enchytraeid worm Cognettia sphagnetorum (Vejd.). Enchytraeids from metal contaminated and uncontaminated forest soil were compared by growing them individually in the laboratory and by following their population development in patchily Cu contaminated microcosms. Genetic differences between the two native populations were studied using allozyme electrophoresis. Individuals from the contaminated site had slower growth rate and they produced fewer fragments of larger size when compared to individuals from the uncontaminated site. In patchily Cu contamin…

Microbial dynamics in durum wheat kernels during aging

2020

In the present work the microbial dynamics in wheat kernels were evaluated over time. The main aim of this research was to study the resistance of lactic acid bacteria (LAB) and yeasts associated to unprocessed cereals used for bread making during long term conservation. To this purpose four Triticum durum Desf. genotypes including two modern varieties (Claudio and Simeto) and two Sicilian wheat landraces (Russello and Timilia) were analysed by a combined culture-independent and -dependent microbiological approach after one, two or three years from cultivation and threshing. DNA based MiSeq Illumina technology was applied to reveal the entire bacterial composition of all semolina samples. T…

Profilin1 regulates sternum development and endochondral bone formation.

2012

Bone development is a dynamic process that requires cell motility and morphological adaptation under the control of actin cytoskeleton. This actin cytoskeleton system is regulated by critical modulators including actin-binding proteins. Among them, profilin1 (Pfn1) is a key player to control actin fiber structure, and it is involved in a number of cellular activities such as migration. During the early phase of body development, skeletal stem cells and osteoblastic progenitor cells migrate to form initial rudiments for future skeletons. During this migration, these cells extend their process based on actin cytoskeletal rearrangement to locate themselves in an appropriate location within mic…

Boceprevir is highly effective in treatment-experienced hepatitis C virus-positive genotype-1 menopausal women

2014

AIM: To investigate the safety/efficacy of Boceprevirbased triple therapy in hepatitis C virus (HCV)-G1 menopausal women who were historic relapsers, partial-responders and null-responders. METHODS: In this single-assignment, unblinded study, we treated fifty-six menopausal women with HCV-G1, 46% F3-F4, and previous PEG-α/RBV failure (7% null, 41% non-responder, and 52% relapser) with 4 wk lead-in with PEG-IFNα2b/RBV followed by PEGIFNα2b/RBV+Boceprevir for 32 wk, with an additional 12 wk of PEG-IFN-α-2b/RBV if patients were HCV-RNA-positive by week 8. In previous null-responders, 44 wk of triple therapy was used. The primary objective of retreatment was to verify whether a sustained virolo…

The recipient CYP2D6 allele 4-associated poor metabolizer status correlates with an early fibrosis development after liver transplantation

2011

Summary CYP2D6 is part of the cytochrome P450 system, which catalyzes biotransformation of endogenous substrates and xenobiotics. Approximately 10% of the Caucasian population has two null alleles, resulting in a poor metabolizer (PM) status. Mostly, allele four (CYP2D6*4) is responsible for the PM status, which is suspected to be associated with an accelerated fibrosis progression (FP). The aim of the present study was to analyze the role of the CYP2D6*4 genotype for FP after liver transplantation (LT). Genotypes were determined in liver biopsies (donor) and peripheral blood (recipient) by fluorescence resonance energy transfer. Data were correlated with clinical variables and risk factors…

IL28B CC GENOTYPE IS ASSOCIATED WITH HIGHER ON-TREATMENT-RESPONSE RATES IN PTS WITH HCV-3: INTERIM RESULTS OF THE WRITE STUDY

2012

Benefit of weight bosed dosoges of Ribavirin (RBV) in combinotion with Peg-lnterferon (PeglFN) a2a in naive patients with HCV2 and HCV3: results of a…

2012

The genetic structure of the cosmopolitan three-partner lichenRamalina farinaceaevidences the concerted diversification of symbionts

2012

The epiphytic lichen Ramalina farinacea is distributed throughout the northern hemisphere in which the same two algal Trebouxia species (provisionally named TR1 and TR9) coexist in every thallus. Ramalina farinacea symbionts were characterized based on the two fungal nuclear loci (nrITS and rpb2 ) along with the primary and secondary structures of nrITS from each Trebouxia species in the Iberian Peninsula and Canary Islands. The results indicated a noticeable genetic differentiation between mycobionts from these two geographic areas and also suggested concerted changes in the three partners of a lichen symbiosis toward two clearly distinguishable ‘holobiont’ lineages. Modeling of ITS2 RNA s…

Examination of Escherichia coli from poultry for selected adhesin genes important in disease caused by mammalian pathogenic E. coli

2001

A collection of 1601 extraintestinal and intestinal Escherichia coli isolated from chickens, turkeys and ducks, in Belgium, France and Spain, was hybridised with gene probes specific for fimbrial and afimbrial adhesins (F17, F18, SSfa/F1C, Bfp, Afa, Cs31A, IntiminEae, Aida-1) of intestinal, urinary and invasive E. coli of mammals and with a probe specific for the P (Pap/Prs) fimbrial adhesin of urinary and invasive E. coli of mammals and birds. Three hundred and eighty-three strains (23.9%) were P-positive, 76 strains (4.8%) were Afa-positive, 75 strains (4.7%) were F17-positive, 67 strains (4.2%) were S-positive, 23 (1.4%) were Intimin-positive, and all were F18-, Cs31A-, Aida1- and Bfp-ne…