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A splice acceptor variant in RGS6 associated with intellectual disability, microcephaly, and cataracts disproportionately promotes expression of a subset of RGS6 isoforms
Intellectual disability (ID) is associated with an increased risk of develo** psychiatric disorders, suggesting a common underlying genetic factor....
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Splice-Modulating Antisense Oligonucleotides as Therapeutics for Inherited Metabolic Diseases
The last decade (2013–2023) has seen unprecedented successes in the clinical translation of therapeutic antisense oligonucleotides (ASOs). Eight such...
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Meta-analysis of Osteopontin splice variants in cancer
BackgroundThe cytokine Osteopontin is a mediator of tumor progression and cancer metastasis. In 2006, we reported that (in addition to the...
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Estimating the proportion of nonsense variants undergoing the newly described phenomenon of manufactured splice rescue
A recent report described a nonsense variant simultaneously creating a donor splice site, resulting in a truncated but functional protein. To explore...
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The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death
There is an incomplete understanding of the burden of splice-disrupting variants in definitively associated inherited heart disease genes and whether...
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Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction
Autosomal dominant optic atrophy (DOA) is an inherited optic neuropathy that results in progressive, bilateral visual acuity loss and field defects. OPA1...
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Expression of osteopontin-5 splice variant in the mouse primary and metastatic breast cancer cells
ObjectiveOsteopontin (OPN) is a well-known glycoprotein involved in numerous pathobiological processes, including cancer. Despite having five splice...
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Insulin receptor alternative splicing in breast and prostate cancer
Cancer etiology represents an intricate, multifactorial orchestration where metabolically associated insulin-like growth factors (IGFs) and insulin...
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Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel–Van der Aa syndrome
Mutations in ADNP result in Helsmoortel–Van der Aa syndrome. Here, we describe the first de novo intronic deletion, affecting the splice-acceptor...
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The differences in drug disposition gene induction by rifampicin and rifabutin are unlikely due to different effects on important pregnane X receptor (NR1I2) splice variants
Rifampicin and rifabutin can activate the pregnane X receptor (PXR, NR1I2 ), thereby inducing pharmacokinetically important genes/proteins and...
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Molecular mechanisms by which splice modulator GEX1A inhibits leukaemia development and progression
IntroductionSplice modulators have been assessed clinically in treating haematologic malignancies exhibiting splice factor mutations and acute...
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Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders
The search for causative mutations in human genetic disorders has mainly focused on mutations that disrupt coding regions or splice sites. Recently,...
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Oncogenic KRAS alters splicing factor phosphorylation and alternative splicing in lung cancer
BackgroundAlternative RNA splicing is widely dysregulated in cancers including lung adenocarcinoma, where aberrant splicing events are frequently...
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Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant
Dilated cardiomyopathy (DCM) is characterized by cardiac enlargement and impaired ventricular contractility leading to heart failure. A single report...
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How VEGF-A and its splice variants affect breast cancer development – clinical implications
BackgroundAltered expression levels and structural variations in the vascular endothelial growth factor (VEGF) have been found to play important...
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Targeting influenza A virus by splicing inhibitor herboxidiene reveals the importance of subtype-specific signatures around splice sites
BackgroundThe association between M segment splicing and pathogenicity remains ambiguous in human influenza A viruses. In this study, we aimed to...
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Breast cancer risk in papilloma patients: Osteopontin splice variants indicate prognosis
BackgroundPapillomas of the breast pose challenges for treatment decisions as their risk for transformation to breast cancer is low but not...
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Expression of Dystrophin Dp71 Splice Variants Is Temporally Regulated During Rodent Brain Development
Dystrophin Dp71 is the major product of the Duchenne muscular dystrophy ( DMD ) gene in the brain, and its loss in DMD patients and mouse models leads...
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Gene expression and alternative splicing contribute to adaptive divergence of ecotypes
Regulation of gene expression is a critical link between genotype and phenotype explaining substantial heritable variation within species. However,...
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Alternative splicing and environmental adaptation in wild house mice
A major goal of evolutionary genetics is to understand the genetic and molecular mechanisms underlying adaptation. Previous work has established that...
