Mapping the Non-Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility.
Sign Up to like & getrecommendations! Published in 2025 at "Advanced science"
DOI: 10.1002/advs.202515512
Abstract: Canonical splicing variants (±2) contribute significantly to genetic disorders, yet the clinical significance of non-canonical splicing variants (NCSVs) that occur outside of canonical splicing sites remains unknown in male infertility. A comprehensive evaluation of reported… read more here.
Keywords: infertility; canonical splicing; non canonical; splicing variants ... See more keywords
ENTPD5: identification of splicing variants and their impact on cancer survival.
Sign Up to like & getrecommendations! Published in 2021 at "Purinergic signalling"
DOI: 10.1007/s11302-021-09795-6
Abstract: NTPDase5 is a nucleotidase of the endoplasmic reticulum that plays an important role in proteostasis as a regulator of protein N-glycosylation. This enzyme was first identified in hamster as a proto-oncogene activated upon a single… read more here.
Keywords: identification splicing; entpd5 identification; variants impact; splicing variants ... See more keywords
Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation
Sign Up to like & getrecommendations! Published in 2021 at "American Journal of Human Genetics"
DOI: 10.1016/j.ajhg.2021.03.006
Abstract: Summary The complexities of gene expression pose challenges for the clinical interpretation of splicing variants. To better understand splicing variants and their contribution to hereditary disease, we evaluated their prevalence, clinical classifications, and associations with… read more here.
Keywords: splicing variants; clinical interpretation; rna analysis; vuss ... See more keywords
Novel alternative splicing variants of Klf4 display different capacities for self-renewal and pluripotency in mouse embryonic stem cells.
Sign Up to like & getrecommendations! Published in 2020 at "Biochemical and biophysical research communications"
DOI: 10.1016/j.bbrc.2020.08.054
Abstract: Embryonic stem (ES) cells are unique in their ability to self-renew indefinitely while maintaining pluripotency. Krüppel-like factor (Klf) 4 is an important member of the Klf family that is known to play a key role… read more here.
Keywords: mklf4; pluripotency; splicing variants; self renewal ... See more keywords
Identification and functional analysis of NOD2 and its two splicing variants associated with a novel pattern of signal regulation in teleost fishes.
Sign Up to like & getrecommendations! Published in 2021 at "Developmental and comparative immunology"
DOI: 10.1016/j.dci.2021.104049
Abstract: The nucleotide-binding oligomerization domain 2 (NOD2) has been identified as an important sensor for microorganic invasion in both mammals and teleost fishes. In this study, two splicing variants of NOD2 (NOD2-v1 and NOD2-v2) were identified… read more here.
Keywords: two splicing; novel pattern; nod2 nod2; splicing variants ... See more keywords
Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model.
Sign Up to like & getrecommendations! Published in 2017 at "Gene"
DOI: 10.1016/j.gene.2017.09.025
Abstract: Alternative pre-mRNA splicing increases transcriptome plasticity by forming naturally-occurring alternative splicing variants (ASVs). Alterations of splicing processes, caused by DNA mutations, result in aberrant splicing and the formation of aberrant mRNA isoforms. Analyses of hereditary… read more here.
Keywords: analysis brca1; mrna splicing; splicing variants; multiplex pcr ... See more keywords
SpliceRCA: in Situ Single-Cell Analysis of mRNA Splicing Variants
Sign Up to like & getrecommendations! Published in 2018 at "ACS Central Science"
DOI: 10.1021/acscentsci.8b00081
Abstract: Immune cell heterogeneity due to the differential expression of RNA splicing variants still remains unexplored. This is mainly because single-cell imaging technologies of splicing variants with precise sequence or base resolution are now not readily… read more here.
Keywords: single cell; splicing variants; cell analysis; cell ... See more keywords
E3 SUMO ligase SIZ1 splicing variants localize and function according to external conditions
Sign Up to like & getrecommendations! Published in 2024 at "Plant Physiology"
DOI: 10.1093/plphys/kiae108
Abstract: Abstract SIZ1 (SAP and MIZ1) is a member of the Siz/PIAS-type RING family of E3 SUMO (small ubiquitin-related modifier) ligases that play key roles in growth, development, and stress responses in plant and animal systems.… read more here.
Keywords: ligase; heat; cngc6; stress ... See more keywords
Characterization and Engineered U1 snRNA Rescue of Splicing Variants in a Turkish Neurodevelopmental Disease Cohort
Sign Up to like & getrecommendations! Published in 2024 at "Human Mutation"
DOI: 10.1155/2024/7760556
Abstract: Although they are rare in the population, rare neurodevelopmental disorders (RNDDs) constitute a significant portion of all rare diseases. While advancements in sequencing technologies led to improvements in diagnosing and managing rare neurodevelopmental diseases, accurate… read more here.
Keywords: disease; rescue splicing; engineered snrna; splicing variants ... See more keywords
Dysregulation of splicing variants and spliceosome components in breast cancer.
Sign Up to like & getrecommendations! Published in 2022 at "Endocrine-related cancer"
DOI: 10.1530/erc-22-0019
Abstract: The dysregulation of the splicing process has emerged as a novel hallmark of metabolic and tumor pathologies. In breast cancer (BCa), which represents the most diagnosed cancer type among women worldwide, the generation and/or dysregulation… read more here.
Keywords: dysregulation splicing; spliceosome components; splicing variants; breast cancer ... See more keywords
Functionally Divergent Splicing Variants of the Rice AGAMOUS Ortholog OsMADS3 Are Evolutionary Conserved in Grasses
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Plant Science"
DOI: 10.3389/fpls.2020.00637
Abstract: Within the MADS-box gene family, the AGAMOUS-subfamily genes are particularly important for plant reproduction, because they control stamen and carpel identity. A number of studies in the last three decades have demonstrated that the AGAMOUS… read more here.
Keywords: serine residue; divergent splicing; splicing variants; ortholog osmads3 ... See more keywords