Search results for "MUTATION"
showing 10 items of 2830 documents
"La construction du personnage dans les derniers récits de Raffaele La Capria"
2018
C’est à la fin des années soixante-dix, au moment où d’anciens protagonistes des avant-gardes littéraires (comme Sollers en France ou Eco en Italie) renouent avec la fiction, que Raffaele La Capria, l’un des précurseurs dans la péninsule du roman expérimental, renonce définitivement au genre. Amore e Psiche, publié pour la première fois en 1973, fera l’objet de plusieurs remaniements sans que l’auteur en soit jamais satisfait. À partir des années quatre-vingt, La Capria ne publie plus que des...
The Co‐mutational Spectrum Determines the Therapeutic Response in Murine FGFR2 Fusion‐Driven Cholangiocarcinoma
2021
Background and aims Intrahepatic cholangiocarcinoma (ICC) is the second most common primary liver cancer and a highly lethal malignancy. Chemotherapeutic options are limited, but a considerable subset of patients harbors genetic lesions for which targeted agents exist. Fibroblast growth factor receptor 2 (FGFR2) fusions belong to the most frequent and therapeutically relevant alterations in ICC, and the first FGFR inhibitor was recently approved for the treatment of patients with progressed, fusion-positive ICC. Response rates of up to 35% indicate that FGFR-targeted therapies are beneficial in many but not all patients. Thus far, no established biomarkers exist that predict resistance or r…
More restrictive Gray codes for some classes of pattern avoiding permutations
2009
In a recent article [W.M.B. Dukes, M.F. Flanagan, T. Mansour, V. Vajnovszki, Combinatorial Gray codes for classes of pattern avoiding permutations, Theoret. Comput. Sci. 396 (2008) 35-49], Dukes, Flanagan, Mansour and Vajnovszki present Gray codes for several families of pattern avoiding permutations. In their Gray codes two consecutive objects differ in at most four or five positions, which is not optimal. In this paper, we present a unified construction in order to refine their results (or to find other Gray codes). In particular, we obtain more restrictive Gray codes for the two Wilf classes of Catalan permutations of length n; two consecutive objects differ in at most two or three posit…
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
2009
International audience; Congenital contractural arachnodactyly (CCA) is an extremely rare disease, due to mutations in the FBN2 gene encoding fibrillin-2. Another member of the fibrillin family, the FBN1 gene, is involved in a broad phenotypic continuum of connective-tissue disorders including Marfan syndrome. Identifying not only what is in common but also what differentiates these two proteins should enable us to better comprehend their respective functions and better understand the multitude of diseases in which these two genes are involved. In 1995 we created a locus-specific database (LSDB) for FBN1 mutations with the Universal Mutation Database (UMD) tool. To facilitate comparison of …
RNA sequencing-based transcriptome profiling of cardiac tissue Implicados novela putative disease mechanisms in FLNC-associated arrhythmogenic cardio…
2020
Arrhythmogenic cardiomyopathy (ACM) encompasses a group of inherited cardiomyopathies including arrhythmogenic right ventricular cardiomyopathy (ARVC) whose molecular disease mechanism is associated with dysregulation of the canonical WNT signalling pathway. Recent evidence indicates that ARVC and ACM caused by pathogenic variants in the FLNC gene encoding filamin C, a major cardiac structural protein, may have different molecular mechanisms of pathogenesis. We sought to identify dysregulated biological pathways in FLNC-associated ACM. RNA was extracted from seven paraffin-embedded left ventricular tissue samples from deceased ACM patients carrying FLNC variants and sequenced. Transcript le…
Non-syndromic Mitral Valve Dysplasia Mutation Changes the Force Resilience and Interaction of Human Filamin A
2018
International audience; Filamin A (FLNa), expressed in endocardial endothelia during fetal valve morphogenesis, is key in cardiac development. Missense mutations in FLNa cause non-syndromic mitral valve dysplasia (FLNA-MVD). Here, we aimed to reveal the currently unknown underlying molecular mechanism behind FLNA-MVD caused by the FLNa P637Q mutation. The solved crystal structure of the FLNa3-5 P637Q revealed that this mutation causes only minor structural changes close to mutation site. These changes were observed to significantly affect FLNa's ability to transmit cellular force and to interact with its binding partner. The performed steered molecular dynamics simulations showed that signi…
Characterizing normal Sylow p-subgroups by character degrees
2012
Abstract Suppose that G is a finite group, let p be a prime and let P ∈ Syl p ( G ) . We prove that P is normal in G if and only if all the irreducible constituents of the permutation character ( 1 P ) G have degree not divisible by p.
Atypical presentations of thrombotic thrombocytopenic purpura in middle-aged women with recurrent cerebral macrovascular thrombosis: a case report
2015
Dear Editor, In the current clinical practice, minimal criteria to define thrombotic thrombocytopenic purpura (TTP) are the presence of signs of microangiopathic haemolytic anaemia and low platelet (PLT) count [1]. TTP relapses (20–50 % of cases) are defined as the recurrence of acute TTP symptoms 30 days after the first episode, while exacerbations occur within 30 days [2]. We here report on an atypical case of acquired TTP where minimal criteria were met only after many recurrent macrovascular ischemic events. A 42-year old Caucasian woman with a history of coronary and cerebral ischemic events was admitted on June 2013, following a recurrent transient ischemic attack (TIA). She had sever…
A ROOT-based analysis tool for measurements of neutron-induced fission products at the IGISOL facility
2012
For the sustainable development of nuclear energy, the handling of used nuclear fuel is a key issue. Innovative fuel cycles are being developed for the transmutation of minor actinides and long-lived fission products. In view of these developments, accurate knowledge of the fuel inventory is necessary. The IGISOL facility with JYFLTRAP, at the accelerator laboratory of the University of Jyvaskyla, will be used to measure independent fission yield distributions from neutron-induced fission on different actinides. In this paper, an analysis tool is developed, using the CERN-based ROOT Data Analysis Framework, with the objective of performing full data analysis within the same code. The analys…
Charcot-Marie-Tooth disease: Genetic and clinical spectrum in a Spanish clinical series
2013
Objectives: To determine the genetic distribution and the phenotypic correlation of an extensive series of patients with Charcot-Marie-Tooth disease in a geographically well-defined Mediterranean area. Methods: A thorough genetic screening, including most of the known genes involved in this disease, was performed and analyzed in this longitudinal descriptive study. Clinical data were analyzed and compared among the genetic subgroups. Results: Molecular diagnosis was accomplished in 365 of 438 patients (83.3%), with a higher success rate in demyelinating forms of the disease. The CMT1A duplication (PMP22 gene) was the most frequent genetic diagnosis (50.4%), followed by mutations in the GJB1…