RNA mis‐splicing in children with congenital myotonic dystrophy is associated with physical function
Sign Up to like & getrecommendations! Published in 2024 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.52224
Abstract: Dysregulated RNA alternative splicing is the hallmark of myotonic dystrophy type 1 (DM1). However, the association between RNA mis‐splicing and physical function in children with the most severe form of disease, congenital myotonic dystrophy (CDM),… read more here.
Keywords: rna mis; dystrophy; physical function; myotonic dystrophy ... See more keywords
Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint
Sign Up to like & getrecommendations! Published in 2024 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-024-01632-9
Abstract: Intronic deletions that critically shorten donor-to-branchpoint (D-BP) distance of a precursor mRNA impose biophysical space constraint on assembly of the U1/U2 spliceosomal complex, leading to canonical splicing failure. Here we use a series of β-globin… read more here.
Keywords: mis splicing; donor branchpoint; risk; space constraint ... See more keywords
Autism-related traits in myotonic dystrophy type 1 model mice are due to MBNL sequestration and RNA mis-splicing of autism-risk genes
Sign Up to like & getrecommendations! Published in 2025 at "Nature Neuroscience"
DOI: 10.1038/s41593-025-01943-0
Abstract: Genome-wide enrichment of gene-specific tandem repeat expansions has been linked to autism spectrum disorder. One such mutation is the CTG tandem repeat expansion in the 3′ untranslated region of the DMPK gene, which is known… read more here.
Keywords: autism risk; risk genes; dystrophy; myotonic dystrophy ... See more keywords
DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis
Sign Up to like & getrecommendations! Published in 2024 at "Science Advances"
DOI: 10.1126/sciadv.adn7732
Abstract: Structural maintenance of chromosomes flexible hinge domain-containing 1 (SMCHD1) is a noncanonical SMC protein and an epigenetic regulator. Mutations in SMCHD1 cause facioscapulohumeral muscular dystrophy (FSHD), by overexpressing DUX4 in muscle cells. Here, we demonstrate… read more here.
Keywords: loss; dux4 overexpression; smchd1 loss; fshd ... See more keywords
Analysis of muscle and blood RNA samples from patients with myotonic dystrophy type 1 reveals the presence of new mis-splicing biomarkers of disease severity
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Medical Genetics"
DOI: 10.1136/jmg-2025-110919
Abstract: Background Myotonic dystrophy type 1 (DM1) is a multisystem disorder with autosomal dominant inheritance, caused by the abnormal expansion of the CTG triplet in the DMPK gene. Biomarker discovery in DM1 is crucial for monitoring… read more here.
Keywords: blood; muscle; disease severity; mis splicing ... See more keywords
Abstract IA022: Mechanisms of splicing dysregulation and dependency in cancer
Sign Up to like & getrecommendations! Published in 2024 at "Molecular Cancer Therapeutics"
DOI: 10.1158/1538-8514.synthleth24-ia022
Abstract: Dysregulated RNA splicing is a hallmark feature of cancer. Much like mutational signatures in tumors, RNA mis-splicing patterns are widely heterogeneous and segregate tumors into clades, suggesting there are distinct mechanisms underlying these splicing aberrations.… read more here.
Keywords: cancer; tumor; splicing dysregulation; dysregulation ... See more keywords
Coordinated Mis-Splicing of Multiple Mitochondrial Iron Metabolism Genes Causes Ring Sideroblast Formation in SF3B1-Mutant MDS
Sign Up to like & getrecommendations! Published in 2020 at "Blood"
DOI: 10.1182/blood-2020-140817
Abstract: Splicing is a fundamental process by which introns are removed from primary RNA transcripts. Alternative splicing is a major mechanism of gene regulation by which eukaryotic cells expand their transcriptional repertoire. By contrast, aberrant splicing… read more here.
Keywords: sf3b1; formation; sf3b1 mutant; mutant sf3b1 ... See more keywords
Mis-Splicing Derived Neoantigens and Cognate T Cell Receptors in Splicing Factor Mutant Myeloid Neoplasms
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DOI: 10.1182/blood-2024-198639
Abstract: Mutations in RNA splicing factors are the most common class of genetic alterations in MDS and are also prevalent in AML. These mutations cause recurrent splicing changes in a highly sequence-specific manner across patients and… read more here.
Keywords: splicing factor; factor mutant; derived neoantigens; splicing derived ... See more keywords
Mis-Spliced Lr34 Transcript Events in Winter Wheat
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DOI: 10.1371/journal.pone.0171149
Abstract: Lr34 in wheat is a non-race-specific gene that confers resistance against multiple fungal pathogens. The resistant allele Lr34 and the susceptible allele Lr34s can be distinguished by three polymorphisms that cause alternation of deduced amino… read more here.
Keywords: mis spliced; wheat; mis splicing; splicing events ... See more keywords
DM1 Transgenic Mice Exhibit Abnormal Neurotransmitter Homeostasis and Synaptic Plasticity in Association with RNA Foci and Mis-Splicing in the Hippocampus
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23020592
Abstract: Myotonic dystrophy type 1 (DM1) is a severe neuromuscular disease mediated by a toxic gain of function of mutant RNAs. The neuropsychological manifestations affect multiple domains of cognition and behavior, but their etiology remains elusive.… read more here.
Keywords: mis splicing; mice; glutamate; rna foci ... See more keywords