Activation of cryptic splice sites in three patients with chronic granulomatous disease [PDF]
Molecular Genetics & Genomic Medicine, 2019 Background Chronic granulomatous disease (CGD) is a primary immune deficiency caused by mutations in the genes encoding the structural components of the phagocyte NADPH oxidase.
Martin de Boer +3 more
doaj +4 more sources
A Deep Exon Cryptic Splice Site Promotes Aberrant Intron Retention in a Von Willebrand Disease Patient [PDF]
International Journal of Molecular Sciences, 2021 John Conboy, Conboy John G
exaly +2 more sources
The main WAP isoform usually found in camel milk arises from the usage of an improbable intron cryptic splice site in the precursor to mRNA in which a GC-AG intron occurs [PDF]
BMC Genetics, 2019 Background Whey acidic protein (WAP) is a major protein identified in the milk of several mammalian species with cysteine-rich domains known as four-disulfide cores (4-DSC).
Alma Ryskaliyeva +5 more
doaj +2 more sources
Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction. [PDF]
Eur J Hum Genet, 2022 AbstractAutosomal dominant optic atrophy (DOA) is an inherited optic neuropathy that results in progressive, bilateral visual acuity loss and field defects. OPA1 is the causative gene in around 60% of cases of DOA. The majority of patients have a pure ocular phenotype, but 20% have extra-ocular features (DOA +).
Harvey JP, Yu-Wai-Man P, Cheetham ME.
europepmc +5 more sources
Modulation of prion protein expression through cryptic splice site manipulation
Journal of Biological Chemistry, 2023 Abstract Lowering expression of prion protein (PrP) is a well-validated therapeutic strategy in prion disease, but additional modalities are urgently needed. In other diseases, small molecules have proven capable of modulating pre-mRNA splicing, sometimes by forcing inclusion of cryptic exons that reduce gene ...
Gentile JE +6 more
europepmc +4 more sources
Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency [PDF]
Mitochondrion, 2017 Hudson Freeze +2 more
exaly +2 more sources
Activation of a Cryptic Splice Site of GFAP in a Patient With Adult-Onset Alexander Disease. [PDF]
Neurol Genet, 2021 Alexander disease (ALXDRD) is an autosomal dominant neurologic disorder caused by mutations in the glial fibrillary acidic protein (GFAP) gene and is pathologically defined by Rosenthal fiber accumulation. Most mutations are exonic missense mutations, and splice site mutations are rare.
Amano E +7 more
europepmc +4 more sources
Modulation of prion protein expression through cryptic splice site manipulation [PDF]
Journal of Biological ChemistryElston D'Souza +2 more
exaly +2 more sources
Exon Junction Sequences as Cryptic Splice Sites [PDF]
Current Biology, 2004 Introns are flanked by a partially conserved coding sequence that forms the immediate exon junction sequence following intron removal from pre-mRNA. Phylogenetic evidence indicates that these sequences have been targeted by numerous intron insertions during evolution, but little is known about this process.
Sadusky, Terrie +2 more
openaire +3 more sources
Cryptic splice sites and split genes [PDF]
Nucleic Acids Research, 2011 We describe a new program called cryptic splice finder (CSF) that can reliably identify cryptic splice sites (css), so providing a useful tool to help investigate splicing mutations in genetic disease. We report that many css are not entirely dormant and are often already active at low levels in normal genes prior to their enhancement in genetic ...
Kapustin, Yuri +7 more
openaire +3 more sources