Search results for "SPT"
showing 10 items of 79 documents
Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration
2021
(1) Background: A non-progressive congenital ataxia (NPCA) phenotype caused by b-III spectrin (SPTBN2) mutations has emerged, mimicking spinocerebellar ataxia, autosomal recessive type 14 (SCAR14). The pattern of inheritance, however, resembles that of autosomal dominant classical spinocerebellar ataxia type 5 (SCA5). (2) Methods: In-depth phenotyping of two boys studied by a customized gene panel. Candidate variants were sought by structural modeling and protein expression. An extensive review of the literature was conducted in order to better characterize the SPTBN2-associated NPCA. (3) Results: Patients exhibited an NPCA with hypotonia, developmental delay, cerebellar syndrome, and cogni…
Phylogeography and demographic inference in Nacella (Patinigera) concinna (Strebel, 1908) in the western Antarctic Peninsula
2011
10 pages; International audience; Endemic to Antarctic ecosystems, the limpet Nacella (Patinigera) concinna (Strebel, 1908) is an abundant and dominant marine benthic invertebrate of the intertidal and shallow subtidal zone. In order to examine the phylogeographic pattern and historical demography of the species along the western Antarctic Peninsula, we amplified 663 bp of the mitochondrial DNA cytochrome oxidase subunit I of 161 N. concinna specimens from five localities, as well as two specimens from South Georgia and Sub-Antarctic Marion Island. As two different morphotypes, one characterized by an elevated shell in the intertidal and the other by a flat one in the subtidal, have been re…
Relationship of Weather Types on the Seasonal and Spatial Variability of Rainfall, Runoff, and Sediment Yield in the Western Mediterranean Basin
2020
Producción Científica
Origin and phylogeography of the Chagas disease main vector Triatoma infestans based on nuclear rDNA sequences and genome size
2004
For about half of all Chagas disease cases T. infestans has been the responsible vector. Contributing to its genetic knowledge will increase Our understanding of the capacity of geographic expansion and domiciliation of triatomines. Populations of all infestans subcomplex species, T. infestans, T. delpontei, T. platensis and T. melanosoma and the so-called T. infestans "dark morph", from many South American countries were studied. A total of 10 and 7 different ITS-2 and ITS-1 haplotypes, respectively, were found. The total intraspecific ITS-2 nucleotide variability detected in T. infestans is the highest hitherto known in triatomines. ITS-1 minisatellites, detected for the first time in tri…
Modelling Photoionisation in Isocytosine: Potential Formation of Longer‐Lived Excited State Cations in its Keto Form
2021
Abstract Studying the effects of UV and VUV radiation on non‐canonical DNA/RNA nucleobases allows us to compare how they release excess energy following absorption with respect to their canonical counterparts. This has attracted much research attention in recent years because of its likely influence on the origin of our genetic lexicon in prebiotic times. Here we present a CASSCF and XMS‐CASPT2 theoretical study of the photoionisation of non‐canonical pyrimidine nucleobase isocytosine in both its keto and enol tautomeric forms. We analyse their lowest energy cationic excited states including 2π+ , 2nO+ and 2nN+ and compare these to the corresponding electronic states in cytosine. Investigat…
Photoinduced Formation Mechanism of the Thymine−Thymine (6−4) Adduct
2013
The photoinduced mechanism leading to the formation of the thymine-thymine (6-4) photolesion has been studied by using the CASPT2//CASSCF approach over a dinucleotide model in vacuo. Following light absorption, localization of the excitation on a single thymine leads to fast singlet-triplet crossing that populates the triplet (3)(nπ*) state of thymine. This state, displaying an elongated C(4)═O bond, triggers (6-4) dimer formation by reaction with the C(5)═C(6) double bond of the adjacent thymine, followed by a second intersystem crossing, which acts as a gate between the excited state of the reactant and the ground state of the photoproduct. The requirement of localized excitation on just …
L’audition chez les primates : entre forme, fonction, écologie et comportement
2019
The order Primates is composed of species whose morphologies, life history traits and behaviors are very diversified. The oldest representatives are dated about 65 million years. Because of this diversity, studies have focused on understanding the relationships between different parameters. Among the morphological structures studied, the basicranium, in particular the characters of the ear, have very often been considered in a phylogenetic perspective. Since the development of new acquisition techniques such as micro-tomography (μCT), new data are available. Thus, the interest for the morphology of the inner and middle ear, hitherto difficult to access, is growing. The structures of the ear…
Tremadocian Stylophoran Echinoderms From The Taebaeksan Basin, Korea.
2006
15 pages; International audience; Abundant isolated elements of cornute and mitrate stylophorans were recovered from the upper Tremadocian Tumugol Formation in the Taebaeksan Basin, Korea. Cornute skeletal elements comprise a diverse assemblage of marginals and brachials of cothurnocystid affinities, suggesting the presence of no fewer than four different species. Mitrate remains include numerous isolated adorals, marginals, and aulacophoral plates with typical peltocystidan morphologies. Two adorals are identified as Anatifopsis sp., while all the others are attributable to A. cocaban. However, the two previously documented peltocystidans of Korea, A. cocaban and A. truncata, are sufficien…
Les ammonites du Pliensbachien et du Toarcien basal dans la carrière de la Roche Blain (Fresnay-le-Puceux, Calvados, Basse-Normandie, France). Taxono…
2008
65 pages; International audience; Résumé Ce travail étudie les riches faunes d'ammonites du Pliensbachien et de la base du Toarcien dans la localité très fossilifère de la carrière de la Roche Blain (Calvados). Une cinquantaine d'espèces pliensbachiennes, récoltées dans une douzaine de niveaux distincts sont toutes décrites et illustrées. Leur préservation est parfois remarquable. Des structures fragiles comme les péristomes ou les mégastries sont assez souvent préservées. A l'exception de deux spécimens d'affinités téthysiennes (Arieticeras cf. amalthei (Oppel, 1853) et Dactylioceras (Eodactylites) sp.), les ammonites récoltées à la Roche Blain se rattachent toutes, sans ambiguïté, aux fau…
Do distantly related parasites rely on the same proximate factors to alter the behaviour of their hosts?
2006
Phylogenetically unrelated parasites often increase the chances of their transmission by inducing similar phenotypic changes in their hosts. However, it is not known whether these convergent strategies rely on the same biochemical precursors. In this paper, we explored such aspects by studying two gammarid species ( Gammarus insensibilis and Gammarus pulex ; Crustacea: Amphipoda: Gammaridae) serving as intermediate hosts in the life cycle of two distantly related parasites: the trematode, Microphallus papillorobustus and the acanthocephalan, Polymorphus minutus . Both these parasite species are known to manipulate the behaviour of their amphipod hosts, bringing them towards the water surfa…