Search results for "Arrangements"

ALK and crizotinib: After the honeymoon...what else? Resistance mechanisms and new therapies to overcome it

2014

The last few decades have witnessed a silent revolution in the war against NSCLC, thanks to the discovery of “oncogenic drivers” and the subsequent development of targeted therapies. The discovery of the EML4-ALK fusion gene in a subgroup of patients with NSCLC and the subsequent clinical development of crizotinib has been an amazing success story in lung cancer translational-research, and its accelerated approval [only 4 years from the discovery of ALK rearrangement in NSCLC to the approval by the Food and Drug Administration (FDA)] marked the beginning of the new decade of targeted therapy. However, common to all targeted therapies, despite an initial benefit, patients inevitably experien…

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developme…

2019

BackgroundBalanced chromosomal rearrangements associated with abnormal phenotype are rare events, but may be challenging for genetic counselling, since molecular characterisation of breakpoints is not performed routinely. We used next-generation sequencing to characterise breakpoints of balanced chromosomal rearrangements at the molecular level in patients with intellectual disability and/or congenital anomalies.MethodsBreakpoints were characterised by a paired-end low depth whole genome sequencing (WGS) strategy and validated by Sanger sequencing. Expression study of disrupted and neighbouring genes was performed by RT-qPCR from blood or lymphoblastoid cell line RNA.ResultsAmong the 55 pat…

BRCA1/BRCA2 rearrangements and CHEK2 common mutations are infrequent in Italian male breast cancer cases

2008

Male breast cancer (MBC) is a rare and poorly known disease. Germ-line mutations of BRCA2 and, to lesser extent, BRCA1 genes are the highest risk factors associated with MBC. Interestingly, BRCA2 germ-line rearrangements have been described in high-risk breast/ovarian cancer families which included at least one MBC case. Germ-line mutations of CHEK2 gene have been also implicated in inherited MBC predisposition. The CHEK2 1100delC mutation has been shown to increase the risk of breast cancer in men lacking BRCA1/BRCA2 mutations. Intriguingly, two other CHEK2 mutations (IVS2+1G>A and I157T) and a CHEK2 large genomic deletion (del9-10) have been associated with an elevated risk for prostate c…

Chromosomal abnormalities in Waldenström's macroglobulinemia

1992

We report the results of cytogenetic studies of direct bone marrow (BM) preparations and of short-term BM and peripheral blood (PB) cultures from 17 patients with Waldenström's macroglobulinemia. We noted clonal chromosome changes in 10 patients. Abnormalities affected chromosomes X, Y, 2, 4, 5, 15, 16, 18, 19, 20, 21, and 22; in particular, chromosomes 2, 4, and 5 were involved in structural changes: a homogeneously staining region [hsr(2)], a der(4)t(4;?)(q32;?), and a 5q+. The other chromosomes were involved in numerical abnormalities, such as pseudodiploidy (a 46,X,-X,+15 clone), loss of chromosome Y, and monosomy of chromosomes 16, 18, 19, 20, 21, and 22. Nonclonal chromosome rearrange…

Experimental and DFT studies on competitive heterocyclic rearrangements. part 2: A one-atom side-chain versus the classic three-atom side-chain (Boul…

2007

The experimental investigation of the base-catalyzed rearrangements of 3-acylamino-1,2,4-oxadiazoles evidenced a new reaction pathway which competes with the well-known ring-degenerate Boulton- Katritzky rearrangement (BKR). The new reaction consists of a one-atom side-chain rearrangement that is base-activated, occurs at a higher temperature than the BKR, and irreversibly leads to the corresponding 2-acylamino-1,3,4-oxadiazoles. An extensive DFT study is reported to elucidate the proposed reaction mechanism and to compare the three possible inherent routes: (i) the reversible three-atom side-chain ring-degenerate BKR, (ii) the ring contraction-ring expansion route (RCRE), and (iii) the one…

The synthesis of fluorinated heteroaromatic compounds. Part 2. Five-membered rings with two heteroatoms. A review

2007

Exact, efficient, and complete arrangement computation for cubic curves

2006

AbstractThe Bentley–Ottmann sweep-line method can compute the arrangement of planar curves, provided a number of geometric primitives operating on the curves are available. We discuss the reduction of the primitives to the analysis of curves and curve pairs, and describe efficient realizations of these analyses for planar algebraic curves of degree three or less. We obtain a complete, exact, and efficient algorithm for computing arrangements of cubic curves. Special cases of cubic curves are conics as well as implicitized cubic splines and Bézier curves.The algorithm is complete in that it handles all possible degeneracies such as tangential intersections and singularities. It is exact in t…

An exact and efficient approach for computing a cell in an arrangement of quadrics

2006

AbstractWe present an approach for the exact and efficient computation of a cell in an arrangement of quadric surfaces. All calculations are based on exact rational algebraic methods and provide the correct mathematical results in all, even degenerate, cases. By projection, the spatial problem is reduced to the one of computing planar arrangements of algebraic curves. We succeed in locating all event points in these arrangements, including tangential intersections and singular points. By introducing an additional curve, which we call the Jacobi curve, we are able to find non-singular tangential intersections. We show that the coordinates of the singular points in our special projected plana…

Triple planes with $p_g=q=0$

2019

We show that general triple planes with p_g=q=0 belong to at most 12 families, that we call surfaces of type I,..., XII, and we prove that the corresponding Tschirnhausen bundle is direct sum of two line bundles in cases I, II, III, whereas is a rank 2 Steiner bundle in the remaining cases. We also provide existence results and explicit constructions for surfaces of type I,..., VII, recovering all classical examples and discovering several new ones. In particular, triple planes of type VII provide counterexamples to a wrong claim made in 1942 by Bronowski.

Hydrogen Arrangements on Defective Quasi-Molecular BN Fragments

2019

Considering the ever-increasing interest in metal-free materials, some potential chemical applications of quasi-molecular boron nitride (BN) derivatives were tested. Specifically, the behavior of BN fragments was analyzed when given defects, producing local electron density changes, were introduced by using topological engineering approaches. The inserted structural faults were Schottky-like divacancy (BN-d) defects, assembled in the fragment frame by the subtraction of one pair of B and N atoms or Stone-Wales (SW) defects. This study is aimed at highlighting the role of these important classes of defects in BN materials hypothesizing their future use in H-2-based processes, related to eith…