Search results for "MUTATION"
showing 10 items of 2830 documents
Abelian Gradings on Upper Block Triangular Matrices
2012
AbstractLet G be an arbitrary finite abelian group. We describe all possible G-gradings on upper block triangular matrix algebras over an algebraically closed field of characteristic zero.
On the blockwise modular isomorphism problem
2017
As a generalization of the modular isomorphism problem we study the behavior of defect groups under Morita equivalence of blocks of finite groups over algebraically closed fields of positive characteristic. We prove that the Morita equivalence class of a block B of defect at most 3 determines the defect groups of B up to isomorphism. In characteristic 0 we prove similar results for metacyclic defect groups and 2-blocks of defect 4. In the second part of the paper we investigate the situation for p-solvable groups G. Among other results we show that the group algebra of G itself determines if G has abelian Sylow p-subgroups.
Qualitative analysis of matrix splitting methods
2001
Abstract Qualitative properties of matrix splitting methods for linear systems with tridiagonal and block tridiagonal Stieltjes-Toeplitz matrices are studied. Two particular splittings, the so-called symmetric tridiagonal splittings and the bidiagonal splittings, are considered, and conditions for qualitative properties like nonnegativity and shape preservation are shown for them. Special attention is paid to their close relation to the well-known splitting techniques like regular and weak regular splitting methods. Extensions to block tridiagonal matrices are given, and their relation to algebraic representations of domain decomposition methods is discussed. The paper is concluded with ill…
Oxidative DNA damage and mutations induced by a polar photosensitizer, Ro19-8022.
1999
The oxidative DNA damage induced by the polar photosensitizer Ro19-8022 in the presence of light was studied and correlated with the associated mutagenicity. Both in isolated DNA and AS52 Chinese hamster ovary cells, photoexcited Ro19-8022 gave rise to a DNA damage profile that was similar to that caused by singlet oxygen: base modifications sensitive to the repair endonuclease Fpg protein, which according to high-performance liquid chromatography (HPLC) analysis were predominantly 8-hydroxyguanine (8-oxoG) residues, were generated in much higher yield than single-strand breaks, sites of base loss (AP sites) and oxidative pyrimidine modifications sensitive to endonuclease III. Fifty percent…
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)
2015
Joubert syndrome (JBTS) is a severe recessive neurodevelopmental ciliopathy which can affect several organ systems. Mutations in known JBTS genes account for approximately half of the cases. By homozygosity mapping and whole-exome sequencing, we identified a novel locus, JBTS23, with a homozygous splice site mutation in KIAA0586 (alias TALPID3), a known lethal ciliopathy locus in model organisms. Truncating KIAA0586 mutations were identified in two additional patients with JBTS. One mutation, c.428delG (p.Arg143Lysfs*4), is unexpectedly common in the general population and may be a major contributor to JBTS. We demonstrate KIAA0586 protein localization at the basal body in human and mouse p…
Development of an Italian RM Y-STR haplotype database: Results of the 2013 GEFI collaborative exercise.
2015
Recently introduced rapidly mutating Y-chromosomal short tandem repeat (RM Y-STR) loci, displaying a multiple-fold higher mutation rate relative to any other Y-STRs, including those conventionally used in forensic casework, have been demonstrated to improve the resolution of male lineage differentiation and to allow male relative separation usually impossible with standard Y-STRs. However, large and geographically-detailed frequency haplotype databases are required to estimate the statistical weight of RM Y-STR haplotype matches if observed in forensic casework. With this in mind, the Italian Working Group (GEFI) of the International Society for Forensic Genetics launched a collaborative ex…
Protein linear indices of the ‘macromolecular pseudograph α-carbon atom adjacency matrix’ in bioinformatics. Part 1: Prediction of protein stability …
2005
Abstract A novel approach to bio-macromolecular design from a linear algebra point of view is introduced. A protein’s total (whole protein) and local (one or more amino acid) linear indices are a new set of bio-macromolecular descriptors of relevance to protein QSAR/QSPR studies. These amino-acid level biochemical descriptors are based on the calculation of linear maps on R n [ f k ( x m i ) : R n → R n ] in canonical basis. These bio-macromolecular indices are calculated from the kth power of the macromolecular pseudograph α-carbon atom adjacency matrix. Total linear indices are linear functional on R n . That is, the kth total linear indices are linear maps from R n to the scalar R [ f k …
Construction of pseudo-bosons systems
2010
In a recent paper we have considered an explicit model of a PT-symmetric system based on a modification of the canonical commutation relation. We have introduced the so-called {\em pseudo-bosons}, and the role of Riesz bases in this context has been analyzed in detail. In this paper we consider a general construction of pseudo-bosons based on an explicit {coordinate-representation}, extending what is usually done in ordinary supersymmetric quantum mechanics. We also discuss an example arising from a linear modification of standard creation and annihilation operators, and we analyze its connection with coherent states.
The natural history of Alzheimer disease: a longitudinal presymptomatic and symptomatic study of a familial cohort
2004
BACKGROUND: Knowledge of the evolution of cognitive deficits in Alzheimer disease is important for our understanding of disease progression. Previous reports, however, have either lacked detail or have not covered the presymptomatic stages. OBJECTIVE: To delineate the onset and progression of clinical and neuropsychological abnormalities in familial Alzheimer disease. METHODS: Nineteen subjects with familial Alzheimer disease underwent serial clinical and neuropsychological assessments. Eight of these had undergone presymptomatic assessments. The follow-up period was 1 to 10 years (mean, 5 years). The relative timing of the occurrence of 3 markers of disease onset and progression (onset of …
EBV-Induced Gene 3 Transcription Is Induced by TLR Signaling in Primary Dendritic Cells via NF-κB Activation
2005
Abstract The EBV-induced gene 3 (EBI3) is expressed in dendritic cells (DCs) and part of the cytokine IL-27 that controls Th cell development. However, its regulated expression in DCs is poorly understood. In the present study we demonstrate that EBI3 is expressed in splenic CD8−, CD8+, and plasmacytoid DC subsets and is induced upon TLR signaling. Cloning and functional analysis of the EBI3 promoter using in vivo footprinting and mutagenesis showed that stimulation via TLR2, TLR4, and TLR9 transactivated the promoter in primary DCs via NF-κB and Ets binding sites at −90 and −73 bp upstream of the transcriptional start site, respectively. Furthermore, we observed that NF-κB p50/p65 and PU.1…