Results 21 to 30 of about 483,589 (358)

Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15

Frontiers in Genetics, 2019
A relevant fraction of BRCA2 variants is associated with splicing alterations and with an increased risk of hereditary breast and ovarian cancer (HBOC). In this work, we have carried out a thorough study of variants from BRCA2 exons 14 and 15 reported at
Eugenia Fraile-Bethencourt, Alberto Valenzuela-Palomo, Beatriz Díez-Gómez, María José Caloca, Susana Gómez-Barrero, Eladio A. Velasco   +5 more
doaj   +1 more source

tRNA Splicing [PDF]

Journal of Biological Chemistry, 1998
Introns interrupt the continuity of many eukaryal genes, and therefore their removal by splicing is a crucial step in gene expression. Interestingly, even within Eukarya there are at least four splicing mechanisms. mRNA splicing in the nucleus takes place in two phosphotransfer reactions on a complex and dynamic machine, the spliceosome.
Abelson, John, Trotta, Christopher R., Li, Hong   +2 more
openaire   +3 more sources

Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays

Frontiers in Genetics, 2018
Genetic testing of BRCA1 and BRCA2 identifies a large number of variants of uncertain clinical significance whose functional and clinical interpretations pose a challenge for genetic counseling.
Eugenia Fraile-Bethencourt, Alberto Valenzuela-Palomo, Beatriz Díez-Gómez, Alberto Acedo, Alberto Acedo, Eladio A. Velasco   +5 more
doaj   +1 more source

Blue Light-Dependent Pre-mRNA Splicing Controls Pigment Biosynthesis in the Mushroom Terana caerulea

Microbiology Spectrum, 2022
Light induces the production of ink-blue pentacyclic natural products, the corticin pigments, in the cobalt crust mushroom Terana caerulea. Here, we describe the genetic locus for corticin biosynthesis and provide evidence for a light-dependent dual ...
Stefanie Lawrinowitz, Jacob M. Wurlitzer, Dieter Weiss, Hans-Dieter Arndt, Erika Kothe, Markus Gressler, Dirk Hoffmeister   +6 more
doaj   +1 more source

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

Nucleic Acids Research, 2009
Thousands of mutations are identified yearly. Although many directly affect protein expression, an increasing proportion of mutations is now believed to influence mRNA splicing.
F. Desmet, D. Hamroun, M. Lalande, G. Collod-Béroud, M. Claustres, C. Béroud   +5 more
semanticscholar   +1 more source

Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome

Frontiers in Genetics, 2018
Mutations in CHD7 have been shown to be a major cause of CHARGE syndrome, which presents many symptoms and features common to other syndromes making its diagnosis difficult.
Olatz Villate, Olatz Villate, Nekane Ibarluzea, Eugenia Fraile-Bethencourt, Alberto Valenzuela, Eladio A. Velasco, Detelina Grozeva, F. L. Raymond, María P. Botella, María-Isabel Tejada, María-Isabel Tejada, María-Isabel Tejada   +11 more
doaj   +1 more source

Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

Frontiers in Genetics, 2018
In silico tools for splicing defect prediction have a key role to assess the impact of variants of uncertain significance. Our aim was to evaluate the performance of a set of commonly used splicing in silico tools comparing the predictions against RNA in
Alejandro Moles-Fernández, Laura Duran-Lozano, Gemma Montalban, Sandra Bonache, Irene López-Perolio, Mireia Menéndez, Mireia Menéndez, Mireia Menéndez, Marta Santamariña, Raquel Behar, Ana Blanco, Estela Carrasco, Adrià López-Fernández, Neda Stjepanovic, Neda Stjepanovic, Judith Balmaña, Judith Balmaña, Gabriel Capellá, Gabriel Capellá, Gabriel Capellá, Marta Pineda, Marta Pineda, Marta Pineda, Ana Vega, Conxi Lázaro, Conxi Lázaro, Conxi Lázaro, Miguel de la Hoya, Orland Diez, Orland Diez, Sara Gutiérrez-Enríquez   +30 more
doaj   +1 more source

Splicing matroids

European Journal of Combinatorics, 2011
We introduce and study a natural variant of matroid amalgams. For matroids M(A) and N(B) such that M/(A-B)=N(B-A), we define a splice of M and N to be a matroid L on the union of A and B with L(B-A)=M and L/(A-B)=N. We show that splices exist for each such pair of matroids M and N; furthermore, there is a freest splice of M and N, which we call the ...
Joseph E. Bonin, William Schmitt
openaire   +3 more sources

Therapeutic targeting of splicing in cancer

Nature Medicine, 2016
Omar Abdel-wahab, Branka Vucetic
exaly   +2 more sources

RNA Binding Proteins that Control Human Papillomavirus Gene Expression

Biomolecules, 2015
The human papillomavirus (HPV) life cycle is strictly linked to the differentiation program of the infected mucosal epithelial cell. In the basal and lower levels of the epithelium, early genes coding for pro-mitotic proteins and viral replication ...
Naoko Kajitani, Stefan Schwartz
doaj   +1 more source