Buscar
Mostrando ítems 31-40 de 118
Mitochondrial genetic differentiation and phylogenetic relationships of three Eptesicus (Histiotus) species in a contact zone in PatagoniaDiferenciación genética mitocondrial y relaciones filogenéticas entre tres especies de Eptesicus (Histiotus) en una zona de contacto en la Patagonia.
(Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto Argentino de Investigación de Las Zonas Áridas. Unidad de Zoología y Ecología Animal, 2020-11)
Eptesicus (Histiotus) magellanicus is a relatively rare and poorly known Patagonian endemic. This species is currently recognized as a valid, butuntil recently some authors treated it as a subspecies of E. (H.) montanus. ...
MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing
(Springer, 2020-10)
Germline pathogenic variants in the DNA mismatch repair genes (MMR): MLH1, MSH2, MSH6, and PMS2, are causative of Lynch syndrome (LS). However, many of the variants mapping outside the invariant splice site positions (IVS ...
A novel mutation in intron 11 donor splice site, responsible of a rare genotype in thyroglobulin gene by altering the pre-mRNA splincing process: Cell expression and bioinformatic analysis
(Elsevier Ireland, 2021-02)
Thyroglobulin (TG) is a homodimeric glycoprotein synthesized by the thyroid gland. To date, two hundred twenty-seven variations of the TG gene have been identified in humans. Thyroid dyshormonogenesis due to TG gene mutations ...
New era in plant alternative splicing analysis enabled by advances in high-throughput sequencing (HTS) technologies
(Frontiers Media S.A., 2019-06)
Alternative splicing (AS) is a crucial posttranscriptional mechanism of gene expression which promotes transcriptome and proteome diversity. At the molecular level, splicing and AS involves recognition and elimination of ...
The chloroplast genome of Hyoscyamus niger and a phylogenetic study of the tribe Hyoscyameae (Solanaceae)
(Public Library of Science, 2014-05)
The tribe Hyoscyameae (Solanaceae) is restricted to Eurasia and includes the genera Archihyoscyamus, Anisodus, Atropa, Atropanthe, Hyoscyamus, Physochlaina, Przewalskia and Scopolia. Even though the monophyly of Hyoscyameae ...
Development of anthocyanin markers: gene mapping, genomic analysis and genetic diversity studies in Ipomoea species
(Academia Brasileira de Ciencias, 2022)
The anthocyanins are pigments responsible for a wide range of colours in plants, from blue, red and purple, play essential biological roles as well as their genes are evolutionarily conserved. Purple sweet potatoes have ...
Study of the relationship between variants of cyp2c9 enzyme and acute intermittent porphyria manifestation
(MNK Publication, 2019-07)
Abstract: Objective: The manifestation of Acute Intermittent Porphyria (AIP) requires many factors. In situations of high demand of heme, initial enzyme of the pathway in parallel to P450 cytochrome genes (CYPs) is induced ...
Compound heterozygous DUOX2 gene mutations (c.2335-1G>C/c.3264_3267delCAGC) associated with congenital hypothyroidism: Characterization of complex cryptic splice sites by minigene analysis
(Elsevier Ireland, 2016-01)
Iodide Organification defects (IOD) represent 10% of cases of congenital hypothyroidism (CH) being the main genes affected that of TPO (thyroid peroxidase) and DUOX2 (dual oxidasa 2). From a patient with clinical and ...
Congenital goiter with hypothyroidism caused by a 5′ splice site mutation in the thyroglobulin gene
(Mary Ann Liebert, 2001-07)
In this work we have extended our initial molecular studies of a consanguineous family with two affected goitrous siblings (H.S.N. and Ac.S.N.) with defective thyroglobulin (Tg) synthesis and secretion because of a homozygotic ...
The human fungal pathogen Paracoccidioides brasiliensis (Onygenales: Ajellomycetaceae) is a complex of two species: Phylogenetic evidence from five mitochondrial markers
(Wiley Blackwell Publishing, Inc, 2010-12)
Paracoccidioides brasiliensis is the aetiological agent of paracoccidioidomycosis, the most important systemic mycosis in Latin America. In order to study the diversity of P. brasiliensis mitochondrial genes, to evaluate ...