Search results for "Frames"

Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent

2006

Familial hypercholesterolemia (FH) is an autosomal dominant inherited disease caused by mutations in the gene coding for the low density lipoprotein receptor (LDL-R). It is characterized by a high concentration of low density lipoprotein (LDL), which frequently gives rise to premature coronary artery disease. We studied the probands of five FH Sicilian families with 'definite' FH and one proband of Paraguayan descent with homozygous FH who has been treated with an effective living-donor liver transplantation. In order to seek the molecular defect in these six families, we used direct sequencing to define the molecular defects of the LDL-R gene responsible for the disease. We described three…

Association study of a SNP coding for a M129V substitution in the prion protein in schizophrenia.

2003

Similar contributions of BRCA1 and BRCA2 germline mutations to early-onset breast cancer in Germany.

2003

This study was undertaken to investigate the prevalence of BRCA1 and BRCA2 germline mutations in 91 German patients unselected for family history, who were diagnosed with breast cancer before the age of 41 years. Clinical information and blood samples were obtained from all patients. A comprehensive BRCA1 and BRCA2 mutational analysis was performed using the protein truncation assay and single-strand conformational polymorphism analysis followed by DNA sequencing of variant signals detected by these assays. Five different deleterious germline mutations including four frameshift mutations and one missense mutation were identified, three in BRCA1 (3.3%) and two mutations (2.2%) in BRCA2. Both…

Gabor systems and almost periodic functions

2017

Abstract Inspired by results of Kim and Ron, given a Gabor frame in L 2 ( R ) , we determine a non-countable generalized frame for the non-separable space AP 2 ( R ) of the Besicovic almost periodic functions. Gabor type frames for suitable separable subspaces of AP 2 ( R ) are constructed. We show furthermore that Bessel-type estimates hold for the AP norm with respect to a countable Gabor system using suitable almost periodic norms of sequences.

TERME

2023

This contribution in terminology aims at taking into consideration the semantic and functional constituents of terms in a cognitive and discursive perspective. To this end, Geeraerts’ model of cognitive lexicology is used to study and exemplify the dimensions of linguistic signs. This discussion opens the door to a modern understanding of linguistic meaning that is provided for a holistic approach by frames, constructions and patterns. The observation of in-context-meaning in terminology is necessary in the broader perspective of a specialized discourse analysis based on the qualitative and quantitative investigation of authentic language material from documented interpersonal communication…

Shear models of Rc-encased steel joist beams in MRFs

2019

This study presents the application of different analytical and finite element (FE) models aimed at predicting the shear resistance of reinforced concrete (RC) and reinforced concrete-encased steel joist (HRCESJ) beams with inclined transversal reinforcement in moment resisting frames (MRFs). In particular, four analytical models are taken into account, two of them specifically conceived for HRCESJ beams in seismic area. The analytical models considered are Eurocode-2 model for the shear strength of RC beams; a variable-inclination stress-field approach; a strut-and-tie additive model and, finally, an analytical formulation in which the shear capacity depends on the number of pairs of incli…

The mitochondrial‐derived peptide MOTS ‐c: a player in exceptional longevity?

2015

Mitochondrial-derived peptides (MDP) are encoded by functional short open reading frames in the mitochondrial DNA (mtDNA). These include humanin, and the recently discovered mitochondrial open reading frame of the 12S rRNA-c (MOTS-c). Although more research is needed, we suggest that the m.1382A>C polymorphism located in the MOTS-c encoding mtDNA, which is specific for the Northeast Asian population, may be among the putative biological mechanisms explaining the high longevity of Japanese people. 5.760 JCR (2015) Q1, 36/187 Cell biology, 3/49 Geriatrics & gerontology UEM

Mitochondrial DNA Portrait of Latvians: Towards the Understanding of the Genetic Structure of Baltic-Speaking Populations

2005

Summary Mitochondrial DNA (mtDNA) variation was investigated in a sample of 299 Latvians, a Baltic-speaking population from Eastern Europe. Sequencing of the first hypervariable segment (HVS-I) in combination with analysis of informative coding region markers revealed that the vast majority of observed mtDNAs belong to haplogroups (hgs) common to most European populations. Analysis of the spatial distribution of mtDNA haplotypes found in Latvians, as well as in Baltic-speaking populations in general, revealed that they share haplotypes with all neighbouring populations irrespective of their linguistic affiliation. Hence, the results of our mtDNA analysis show that the previously described s…

CTCF and BORIS Regulate Rb2/p130 Gene Transcription: A Novel Mechanism and a New Paradigm for Understanding the Biology of Lung Cancer

2011

Abstract Although innumerable investigations regarding the biology of lung cancer have been carried out, many aspects thereof remain to be addressed, including the role played by the retinoblastoma-related protein Rb2/p130 during the evolution of this disease. Here we report novel findings on the mechanisms that control Rb2/p130 gene expression in lung fibroblasts and characterize the effects of Rb2/p130 deregulation on the proliferative features of lung cancer cells. We revealed for the first time that in lung fibroblasts the expression of Rb2/p130 gene is directly controlled by the chromatin insulator CCCTC-binding factor, CTCF, which by binding to the Rb2/p130 gene promoter induces, and/…

Regulation of human inducible nitric oxide synthase expression by an upstream open reading frame.

2019

Abstract The human inducible nitric oxide synthase (iNOS) gene contains an upstream open reading frame (uORF) in its 5′-untranslated region (5′-UTR) implying a translational regulation of iNOS expression. Transfection experiments in human DLD-1 cells revealed that the uORF although translatable seems not to inhibit the translation start at the bona fide ATG. Our data clearly show that human iNOS translation is cap-dependent and that the 5′-UTR of the iNOS mRNA contains no internal ribosome entry site. Translation of the bona fide coding sequence is most likely mediated by a leaky scanning mechanism. The 5′-UTR is encoded by exon 1 and exon 2 of the iNOS gene with the uORF stop codon located…