genetic

Dirofilaria immitis in Bulgaria. The first genetic baseline data and an overview of the current status

Dirofilaria immitis, the agent of canine dirofilariosis, is a common parasite of domestic and wild carnivores with zoonotic potential and worldwide distribution, being endemic in many countries. Bulgaria is among European countries recognized as endemic for this heartworm parasite. In the present

Pharmacogenetic considerations for migraine therapies

Introduction: Migraine is a common neurological disorder with a complex pathophysiology. It has been estimated that incidence between adults of current headache disorder is about 50%. Different studies show that this condition has an important and complex genetic component in response to drug therapy. Areas covered: This review shows and summarizes the importance of the polymorphisms associated with the major antimigraine drug metabolizing enzymes. The research of bibliographic databases has involved only published peer-reviewed articles from indexed journals.

The promoter-associated noncoding RNA PNCCCND1_B assembles a protein–RNA complex to regulate cyclin D1 transcription in Ewing sarcoma

Most Ewing sarcomas are characterized by the in-frame chromosomal translocation t(11;22) generating the EWS–FLI1 oncogene. EWS–FLI1 protein interacts with the RNA helicase DHX9 and affects transcription and processing of genes involved in neoplastic transformation, including CCND1 (the cyclin D1 gene), which contributes to cell-cycle dysregulation in cancer.

Genetic influence on femoral plaque and its relationship with carotid plaque: an international twin study

To disentangle genetic and environmental influences on the development of femoral plaques using a population of adult twins. To evaluate the potential role of shared genetic and environmental factors in the co-occurrence of femoral and carotid plaques. The sample included 566 twins belonging to 164 monozygotic (MZ) and 119 dizygotic (DZ) twin pairs, who underwent peripheral arterial assessment by B-mode ultrasound in different centers. The variance in femoral plaques onset was due to genetic factors and the remaining 50% was explained by common (15%) and unique (35%) environmental factors.

PeachVar-DB: a curated collection of genetic variations for the interactive analysis of Peach Genome Data

Applying next-generation sequencing (NGS) technologies to species of agricultural interest has the potential to accelerate the understanding and exploration of genetic resources. The storage, availability and maintenance of huge quantities of NGS-generated data remains a major challenge. The PeachVar-DB portal, available at http://hpc-bioinformatics.cineca.it/peach, is an open-source catalog of genetic variants present in peach (Prunus persica L.

Evaluating mtDNA patterns of genetic isolation using a re-sampling procedure: A case study on Italian populations

ACKGROUND:
A number of studies which have investigated isolation patterns in human populations rely on the analysis of intra- and inter-population genetic statistics of mtDNA polymorphisms. However, this approach makes it difficult to differentiate between the effects of long-term genetic isolation and the random fluctuations of statistics due to reduced sample size.
AIM:
To overcome the confounding effect of sample size when detecting signatures of genetic isolation.
SUBJECTS AND METHODS:

Histone deacetylase inhibitors exert anti-tumor effects on human adherent and stem-like glioma cells 11 Medical and Health Sciences 1112 Oncology and Carcinogenesis

Background: The diagnosis of glioblastoma (GBM), a most aggressive primary brain tumor with a median survival of 14.6 months, carries a dismal prognosis. GBMs are characterized by numerous genetic and epigenetic alterations, affecting patient survival and treatment response. Epigenetic mechanisms are deregulated in GBM as a result of aberrant expression/activity of epigenetic enzymes, including histone deacetylases (HDAC) which remove acetyl groups from histones regulating chromatin accessibility.

Minimal residual disease (MRD) in non-Hodgkin lymphomas: Interlaboratory reproducibility on marrow samples with very low levels of disease within the FIL (Fondazione Italiana Linfomi) MRD Network

In 2009, the four laboratories of the Fondazione Italiana Linfomi (FIL) minimal residual disease (MRD) Network started a collaborative effort to harmonize and standardize their methodologies at the national level, performing quality control (QC) rounds for follicular lymphoma (FL) and mantle cell lymphoma (MCL) MRD assessment.

Genetic and metabolic predictors of hepatic fat content in a cohort of Italian children with obesity

OBJECTIVES: To comprehensively explore metabolic and genetic contributors to liver fat accumulation in overweight/obese children.METHODS: Two hundred thirty Italian children with obesity were investigated for metabolic parameters and genotyped for PNPLA3, TM6SF2, GCKR, and MBOAT7 gene variants. Percentage hepatic fat content (HFF%) was measured by nuclear magnetic resonance.RESULTS: HFF% was positively related with BMI, HOMA(IR), metabolic syndrome, ALT, AST, gamma GT, and albumin.

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