Search results for "mutation."

Outcomes of Patients With Advanced NSCLC From the Intergroupe Francophone de Cancérologie Thoracique Biomarkers France Study by KRAS Mutation Subtypes

2020

Abstract Introduction KRAS mutations are detected in 20% to 30% of NSCLC. However, KRAS mutation subtypes may differently influence the outcome of patients with advanced NSCLC. Methods In the Biomarkers France study, 4894 KRAS mutations (26.2%) were detected in 4634 patients from the 17,664 enrolled patients with NSCLC. Survival and treatment data on noncurative stage III to IV NSCLC were available for 901 patients. First- and second-line treatment effects on progression-free survival and overall survival were analyzed according to the KRAS mutations subtype. Results Over 95% of patients with KRAS mutation were smokers or former smokers who were white (99.5%), presenting with adenocarcinoma…

Chronological expression of Ciliated Bronchial Epithelium 1 during pulmonary development

2009

Ciliated Bronchial Epithelium (CBE) 1 is a novel gene, which is expressed in ciliated cells. As cilia are important during embryogenesis, the present authors characterised the murine homologue of CBE1 (Cbe1) and compared its temporal expression during murine and human lung development. Cbe1 cDNA was cloned and characterised using sequencing, standard PCR and Western blotting. Mouse and human embryonic/fetal lungs (HELs) were harvested for mRNA analysis and protein localisation in vivo and in vitro using RT-PCR and immunohistochemistry. The Cbe1 amino acid sequence was >75% identical with CBE1 and its alternative splicing and tissue distribution were highly conserved. Pulmonary expression of…

2017

It has been shown in previous papers that classes of (minimal asymmetric) informationally-complete positive operator valued measures (IC-POVMs) in dimension d can be built using the multiparticle Pauli group acting on appropriate fiducial states. The latter states may also be derived starting from the Poincare upper half-plane model H . To do this, one translates the congruence (or non-congruence) subgroups of index d of the modular group into groups of permutation gates, some of the eigenstates of which are the sought fiducials. The structure of some IC-POVMs is found to be intimately related to the Kochen-Specker theorem.

Weak commutation relations of unbounded operators: Nonlinear extensions

2013

We continue our analysis of the consequences of the commutation relation $[S,T]=\Id$, where $S$ and $T$ are two closable unbounded operators. The {\em weak} sense of this commutator is given in terms of the inner product of the Hilbert space $\H$ where the operators act. {We also consider what we call, adopting a physical terminology}, a {\em nonlinear} extension of the above commutation relations.

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…