Results 21 to 30 of about 366,865 (319)
The Diverse Genomic Landscape of Diamond–Blackfan Anemia: Two Novel Variants and a Mini-Review
Children, 2023 Diamond–Blackfan anemia (DBA) is a ribosomopathy characterized by bone marrow erythroid hypoplasia, which typically presents with severe anemia within the first months of life. DBA is typically attributed to a heterozygous mutation in a ribosomal protein
Iordanis Pelagiadis +9 more
doaj +1 more source
A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease
Molecular Genetics & Genomic Medicine, 2020 Background Wilson disease is an autosomal recessive metabolic disorder resulting from accumulation of excess copper especially in the liver and brain.
France Woimant +6 more
doaj +1 more source
Biology, 2021 RNA sequencing is a promising technique for detecting normal and aberrant RNA isoforms. Here, we present a new single-gene, straightforward 1-day hands-on protocol for detection of splicing alterations with deep RNA sequencing from blood.
Vita Šetrajčič Dragoš +5 more
doaj +1 more source
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 R. Schmitt
openaire +3 more sources
Splice and Dice: Intronic microRNAs, Splicing and Cancer [PDF]
Biomedicines, 2021 Introns span only a quarter of the human genome, yet they host around 60% of all known microRNAs. Emerging evidence indicates the adaptive advantage of microRNAs residing within introns is attributed to their complex co-regulation with transcription and alternative splicing of their host genes.
Alex C. H. Wong, John E. J. Rasko
openaire +3 more sources
A mutation in a splicing factor that causes retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing [PDF]
, 2014 Background: Substantial progress has been made in the identification of sequence elements that control mRNA splicing and the genetic variants in these elements that alter mRNA splicing (referred to as splicing quantitative trait loci – sQTLs).
Ramesar, Raj +7 more
core +1 more source
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 +11 more
doaj +1 more source
hnRNP A/B Proteins: An Encyclopedic Assessment of Their Roles in Homeostasis and Disease
Biology, 2021 The hnRNP A/B family of proteins is canonically central to cellular RNA metabolism, but due to their highly conserved nature, the functional differences between hnRNP A1, A2/B1, A0, and A3 are often overlooked. In this review, we explore and identify the
Patricia A. Thibault +5 more
doaj +1 more source
A trio of unique alternative splicing patterns : the splicing of tandem NAGNAG acceptors, transcription-start-site-dependent and mutually dependent cassette exons [PDF]
, 2008 With the rapid increase in the volume of genomic and transcript data in mouse and human, a diverse set of alternative splicing patterns can be discovered.
Chern, Tzu-Ming
core +1 more source
Splicing-associated epitopes and immune therapy response.
, 2021 (A) Distribution of the number of tumor-specific splicing-derived neoepitopes (splicing-epitopes) and splicing-affected self-epitopes that would be depleted in the altered isoform (self-epitopes) using ≤500nM to define candidate epitopes, separated by ...
Judith Pérez-Granado (11442479) +6 more
core +1 more source