Search results for "mutations"
showing 10 items of 205 documents
A spontaneous mitonuclear epistasis converging on Rieske Fe-S protein exacerbates complex III deficiency in mice
2020
We previously observed an unexpected fivefold (35 vs. 200 days) difference in the survival of respiratory chain complex III (CIII) deficient Bcs1lp.S78G mice between two congenic backgrounds. Here, we identify a spontaneous homoplasmic mtDNA variant (m.G14904A, mt-Cybp.D254N), affecting the CIII subunit cytochrome b (MT-CYB), in the background with short survival. We utilize maternal inheritance of mtDNA to confirm this as the causative variant and show that it further decreases the low CIII activity in Bcs1lp.S78G tissues to below survival threshold by 35 days of age. Molecular dynamics simulations predict D254N to restrict the flexibility of MT-CYB ef loop, potentially affecting RISP dyna…
Innovative and Applied Research in Biology: Proceedings
2022
The collection contains SCIENTIFIC articles on the topics of the LU 80 conference reports. The main focus is on innovative and applied research in biology and interdisciplinary fields.
On fixed points of the Burrows-Wheeler transform
2017
The Burrows-Wheeler Transform is a well known transformation widely used in Data Compression: important competitive compression software, such as Bzip (cf. [1]) and Szip (cf. [2]) and some indexing software, like the FM-index (cf. [3]), are deeply based on the Burrows Wheeler Transform. The main advantage of using BWT for data compression consists in its feature of "clustering" together equal characters. In this paper we show the existence of fixed points of BWT, i.e., words on which BWT has no effect. We show a characterization of the permutations associated to BWT of fixed points and we give the explicit form of fixed points on a binary ordered alphabet a, b having at most four b's and th…
Restricted 123-avoiding Baxter permutations and the Padovan numbers
2007
AbstractBaxter studied a particular class of permutations by considering fixed points of the composite of commuting functions. This class is called Baxter permutations. In this paper we investigate the number of 123-avoiding Baxter permutations of length n that also avoid (or contain a prescribed number of occurrences of) another certain pattern of length k. In several interesting cases the generating function depends only on k and is expressed via the generating function for the Padovan numbers.
A loopless algorithm for generating the permutations of a multiset
2003
AbstractMany combinatorial structures can be constructed from simpler components. For example, a permutation can be constructed from cycles, or a Motzkin word from a Dyck word and a combination. In this paper we present a constructor for combinatorial structures, called shuffle on trajectories (defined previously in a non-combinatorial context), and we show how this constructor enables us to obtain a new loopless generating algorithm for multiset permutations from similar results for simpler objects.
Gefitinib in lung cancer therapy. Clinical results, predictive markers of response and future perspectives.
2009
Over the past few years, epidermal growth factor receptor has emerged as one of the most important targets in tumorgenesis and several drugs targeting signal transduction pathways have been developed. The first among these agents to be approved for the treatment of NSCLC was gefitinib, a potent, selective and reversible inhibitor of HER1/EGFR tyrosine kinase activity. The review summarizes its clinical development and the new therapeutic options, with particular focus on predictive markers of susceptibility to this drug.
Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis
2006
Familial haemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous disorder characterised by constitutive defects in cellular cytotoxicity resulting in fever, hepatosplenomegaly and cytopenia, and the outcome is fatal unless treated by chemoimmunotherapy followed by haematopoietic stem‐cell transplantation. Since 1999, mutations in the perforin gene giving rise to this disease have been identified; however, these account only for 40% of cases. Lack of a genetic marker hampers the diagnosis, suitability for transplantation, selection of familial donors, identification of carriers, genetic counselling and prenatal diagnosis. Mutations in the Munc13–4 gene have recently been des…
Mahonian STAT on words
2016
In 2000, Babson and Steingrimsson introduced the notion of what is now known as a permutation vincular pattern, and based on it they re-defined known Mahonian statistics and introduced new ones, proving or conjecturing their Mahonity. These conjectures were proved by Foata and Zeilberger in 2001, and by Foata and Randrianarivony in 2006.In 2010, Burstein refined some of these results by giving a bijection between permutations with a fixed value for the major index and those with the same value for STAT , where STAT is one of the statistics defined and proved to be Mahonian in the 2000 Babson and Steingrimsson's paper. Several other statistics are preserved as well by Burstein's bijection.At…
"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...
Lack of SCN1A Mutations in Familial Febrile Seizures
2002
Summary: Purpose: Mutations in the voltage-gated sodium channel subunit gene SCN1A have been associated with febrile seizures (FSs) in autosomal dominant generalized epilepsy with febrile seizures plus (GEFS+) families and severe myoclonic epilepsy of infancy. The present study assessed the role of SCN1A in familial typical FSs. Methods: FS families were selected throughout a collaborative study of the Italian League Against Epilepsy. For each index case, the entire coding region of SCN1A was screened by denaturant high-performance liquid chromatography. DNA fragments showing variant chromatograms were subsequently sequenced. Results: Thirty-two FS families accounting for 91 affected indiv…