Search results for "MUTATION"
showing 10 items of 2830 documents
A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia
2000
Winterpacht, Andreas, Katja Hilbert, Christiane Stelzer, Thorsten Schweikardt, Heinz Decker, Hugo Segerer, Jürgen Spranger, and Bernhard Zabel. A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia. Physiol. Genomics 2: 9–12, 2000.—Fibroblast growth factor receptor 3 (FGFR3) is a glycoprotein that belongs to the family of tyrosine kinase receptors. Specific mutations in the FGFR3 gene are associated with autosomal dominant human skeletal disorders such as hypochondroplasia, achondroplasia, and thanatophoric dysplasia. Hypochondroplasia (HCH), the mildest form of this group of short-limbed dwarfism disorders, results in ∼60% of cases from a mut…
Gray code for permutations with a fixed number of cycles
2007
AbstractWe give the first Gray code for the set of n-length permutations with a given number of cycles. In this code, each permutation is transformed into its successor by a product with a cycle of length three, which is optimal. If we represent each permutation by its transposition array then the obtained list still remains a Gray code and this allows us to construct a constant amortized time (CAT) algorithm for generating these codes. Also, Gray code and generating algorithm for n-length permutations with fixed number of left-to-right minima are discussed.
Oxidative DNA base damage induced by singlet oxygen and photosensitization: recognition by repair endonucleases and mutagenicity.
2000
We have analyzed the recognition by various repair endonucleases of DNA base modifications induced by three oxidants, viz. [4-(tert-butyldioxycarbonyl)benzyl]triethylammonium chloride (BCBT), a photochemical source of tert-butoxyl radicals, disodium salt of 1,4-etheno-2,3-benzodioxin-1,4-dipropanoic acid (NDPO(2)), a chemical source of singlet oxygen, and riboflavin, a type-I photosensitizer. The base modifications induced by BCBT, which were previously shown to be mostly 7,8-dihydro-8-oxoguanine (8-oxoGua) residues, were recognized by Fpg and Ogg1 proteins, but not by endonuclease IIII, Ntg1 and Ntg2 proteins. In the case of singlet oxygen induced damage, 8-oxoGua accounted for only 35% of…
tert-Butoxyl radicals generate mainly 7,8-dihydro-8-oxoguanine in DNA.
2000
Abstract Like hydroxyl radicals, alkoxyl radicals have been implicated in the generation of cellular oxidative DNA damage under physiological conditions; however, their genotoxic potential has not yet been established. We have analyzed the DNA damage induced by a photochemical source of tert- butoxyl radicals, the water soluble peroxy ester [4-( tert -butyldioxycarbonyl)benzyl]triethylammonium chloride (BCBT), using various repair endonucleases as probes. The irradiation (UV 360 ) of BCBT in the presence of bacteriophage PM2 DNA was found to generate a DNA damage profile that consisted mostly of base modifications sensitive to the repair endonuclease Fpg protein. Approximately 90% of the mo…
High prevalence to resistance of clarithromycin in Helicobacter pylori strains isolated in Sicily .
2012
A catalog of HLA type, HLA expression, and neo-epitope candidates in human cancer cell lines
2014
Cancer cell lines are a tremendous resource for cancer biology and therapy development. These multipurpose tools are commonly used to examine the genetic origin of cancers, to identify potential novel tumor targets, such as tumor antigens for vaccine devel-opment, and utilized to screen potential therapies in preclinical studies. Mutations, gene expression, and drug sensitivity have been determined for many cell lines using next-generation sequencing (NGS). However, the human leukocyte antigen (HLA) type and HLA expression of tumor cell lines, characterizations necessary for the development of cancer vaccines, have remained largely incomplete and, such information, when available, has been …
Mutations in DNA Binding and Transactivation Domains Affect the Dynamics of Parvovirus NS1 Protein
2013
ABSTRACT The multifunctional replication protein of autonomous parvoviruses, NS1, is vital for viral genome replication and for the control of viral protein production. Two DNA-interacting domains of NS1, the N-terminal and helicase domains, are necessary for these functions. In addition, the N and C termini of NS1 are required for activation of viral promoter P38. By comparison with the structural and biochemical data from other parvoviruses, we identified potential DNA-interacting amino acid residues from canine parvovirus NS1. The role of the identified amino acids in NS1 binding dynamics was studied by mutagenesis, fluorescence recovery after photobleaching, and computer simulations. Mu…
Genetic manipulation of longevity-related genes as a tool to regulate yeast life span and metabolite production during winemaking
2013
Abstract Background Yeast viability and vitality are essential for different industrial processes where the yeast Saccharomyces cerevisiae is used as a biotechnological tool. Therefore, the decline of yeast biological functions during aging may compromise their successful biotechnological use. Life span is controlled by a variety of molecular mechanisms, many of which are connected to stress tolerance and genomic stability, although the metabolic status of a cell has proven a main factor affecting its longevity. Acetic acid and ethanol accumulation shorten chronological life span (CLS), while glycerol extends it. Results Different age-related gene classes have been modified by deletion or o…
Le sérieux du jeu : le concept du jeu gadamérien et son rôle dans l’expérience de l’art et de la vérité
2018
National audience
Simple method for limiting delay of optimized interleavers for turbo-codes
2000
An iterative interleaver growth algorithm is extended to allow the delay and required memory of designed interleavers to be halved with negligible performance loss. The original algorithm is efficient for two-component parallel concatenated turbo-codes with given constituent encoders that are optimum with regard to a cost function satisfying some mild conditions. However, it is only actually optimum if the selected set of patterns is representative of low-weight turbo-codewords. The new interleaver uses all terminating error patterns having an input weight not greater than a fixed IWX and single-coder output weight not greater than WX is proposed.