Search results for "Molecular Genetics"
showing 10 items of 81 documents
Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families
2005
Retinitis pigmentosa is the most common form of retinal degeneration and is heterogeneous both clinically and genetically. The autosomal dominant forms ( ADRP) can be caused by mutations in 12 different genes. This report describes the first simultaneous mutation analysis of all the known ADRP genes in the same population, represented by 43 Italian families. This analysis allowed the identification of causative mutations in 12 of the families (28% of the total). Seven different mutations were identified, two of which are novel (458delC and 6901C --> T (P2301S), in the CRX and PRPF8 genes, respectively). Several novel polymorphisms leading to amino acid changes in the FSCN2, NRL, IMPDH1, and…
Partial Methylation at Am100 in 18S rRNA of Baker's Yeast Reveals Ribosome Heterogeneity on the Level of Eukaryotic rRNA Modification
2014
Ribosome heterogeneity is of increasing biological significance and several examples have been described for multicellular and single cells organisms. In here we show for the first time a variation in ribose methylation within the 18S rRNA of Saccharomyces cerevisiae. Using RNA-cleaving DNAzymes, we could specifically demonstrate that a significant amount of S. cerevisiae ribosomes are not methylated at 2'-O-ribose of A100 residue in the 18S rRNA. Furthermore, using LC-UV-MS/MS of a respective 18S rRNA fragment, we could not only corroborate the partial methylation at A100, but could also quantify the methylated versus non-methylated A100 residue. Here, we exhibit that only 68% of A100 in t…
Molecular Typing Reveals Frequent Clustering among Human Isolates of Listeria monocytogenes in Italy
2009
In Italy, the annual incidence of reported cases of listeriosis amounts in recent years (2004 to 2006) to 0.8 cases per million inhabitants. Our study is a subtyping analysis by serotyping, ribotyping, and pulsed-field gel electrophoresis analysis of 44 human isolates from apparently sporadic cases of infection in the Lombardy region and in the Province of Florence, Italy, in the years 1996 to 2007. Based on the results of the different subtyping methods, 10 occasions were detected when strains of L. monocytogenes with the same subtype were isolated from more than one listeriosis case. A total of 28 (66.7%) out of 44 isolates were attributed to molecular subtype clusters. Our data support t…
Characterization of the first extended-spectrum beta-lactamase-producing nontyphoidal Salmonella strains isolated in Tehran, Iran.
2009
The infections caused by Salmonella remain a significant public health problem throughout the world. beta-Lactams and fluoroquinolones are generally used to treat invasive Salmonella infections, but emergence and spread of antibiotic-resistant strains are being increasingly notified in many countries. In particular, detection of extended-spectrum beta-lactamases (ESBLs) in Salmonella spp. is a newly emerging threat worldwide. This study was carried out to characterize beta-lactamase-producing Salmonella strains identified in Tehran, Iran. Over the 2-year period from 2007 to 2008, 6 of 136 Salmonella isolates recovered from pediatrics patients, including three Salmonella enterica serotypes E…
miRNA Signature and Dicer Requirement during Human Endometrial Stromal Decidualization In Vitro
2012
Decidualization is a morphological and biochemical transformation of endometrial stromal fibroblast into differentiated decidual cells, which is critical for embryo implantation and pregnancy establishment. The complex regulatory networks have been elucidated at both the transcriptome and the proteome levels, however very little is known about the post-transcriptional regulation of this process. miRNAs regulate multiple physiological pathways and their de-regulation is associated with human disorders including gynaecological conditions such as endometriosis and preeclampsia. In this study we profile the miRNAs expression throughout human endometrial stromal (hESCs) decidualization and analy…
Focal DNA Copy Number Changes in Neuroblastoma Target MYCN Regulated Genes
2013
Neuroblastoma is an embryonic tumor arising from immature sympathetic nervous system cells. Recurrent genomic alterations include MYCN and ALK amplification as well as recurrent patterns of gains and losses of whole or large partial chromosome segments. A recent whole genome sequencing effort yielded no frequently recurring mutations in genes other than those affecting ALK. However, the study further stresses the importance of DNA copy number alterations in this disease, in particular for genes implicated in neuritogenesis. Here we provide additional evidence for the importance of focal DNA copy number gains and losses, which are predominantly observed in MYCN amplified tumors. A focal 5 kb…
Oenococcus oeni : advances in molecular genetics
2017
International audience
Genetische Hämochromatose und das HFE-Gen: von der Molekulargenetik zur klinischen Diagnostik
2000
More than 90% of patients with genetic hemochromatosis carry a characteristic mutation in the HFE-gene (C282Y). HFE modulates the iron uptake by the transferrin receptor. Duodenal crypt cells of HFE-knockout mice show low intracellular iron concentrations which lead to an upregulation of the divalent metal transporter and enhanced iron uptake by duodenal enterocytes. Heterozygosity for the C282Y mutation appears to alter the course of other liver diseases like porphyria cutanea tarda and nonalcoholic steatohepatitis.
Fast Isolation by AFLP of Sequences Containing Repeats
2013
Fast isolation by AFLP of sequences containing repeats (FIASCO) is a rapid and simple method for separating microsatellite-containing DNA fragments from genomic DNA de novo. The method takes the advantage of the amplified fragment length polymorphism (AFLP) technique that relies on effective digestion-ligation reaction. The repeat-containing fragments are selectively hybridized to biotinylated probes and harvested by streptavidin-coated magnetic beads. The enriched microsatellite-containing fragments can be cloned and sequenced to yield a variety of microsatellite loci for applications in many different fields in molecular genetics.
Second report on chicken genes and chromosomes 2005.
2005
International audience