A Splice Site Mutation Associated with Congenital CD59 Deficiency [PDF]
Hematology Reports, 2022 Congenital CD59 deficiency is a recently described rare autosomal recessive disease associated with CD59 gene mutations that lead to deficient or dysfunctional CD59 protein on the cell surface.
Jiani N. Chai +4 more
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Identifying RNA splicing factors using IFT genes in Chlamydomonas reinhardtii [PDF]
Open Biology, 2018 Intraflagellar transport moves proteins in and out of flagella/cilia and it is essential for the assembly of these organelles. Using whole-genome sequencing, we identified splice site mutations in two IFT genes, IFT81 (fla9) and IFT121 (ift121-2), which ...
Huawen Lin +3 more
doaj +4 more sources
Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site [PDF]
Frontiers in Endocrinology, 2023 The HDR syndrome is a rare autosomal dominant disorder characterised by Hypoparathyroidism, Deafness, and Renal dysplasia, and is caused by inactivating heterozygous germline mutations in the GATA3 gene.
Catarina I. Gonçalves +4 more
doaj +2 more sources
Cx26 keratitis ichthyosis deafness syndrome mutations trigger alternative splicing of Cx26 to prevent expression and cause toxicity in vitro [PDF]
Royal Society Open Science, 2019 The Cx26 mRNA has not been reported to undergo alternative splicing. In expressing a series of human keratitis ichthyosis deafness (KID) syndrome mutations of Cx26 (A88V, N14K and A40V), we found the production of a truncated mRNA product.
Jonathan Cook +2 more
doaj +4 more sources
Precursor RNA structural patterns at SF3B1 mutation sensitive cryptic 3’ splice sites [PDF]
RNA BiologySF3B1 is a core component of the spliceosome involved in branch point recognition and 3’ splice site selection. The SF3B1 K700E mutation (lysine to glutamic acid) is common in myelodysplastic syndrome and other blood disorders.
Austin Herbert +5 more
doaj +2 more sources
Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome [PDF]
Diagnostic Pathology, 2018 Background The mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease resulting from the defective activity of the enzyme α-L-iduronidase (IDUA).
Latifa Chkioua +6 more
doaj +2 more sources
Case Report: A Novel Splice-Site Mutation in DNAJB6 Associated With Juvenile-Onset Proximal–Distal Myopathy in a Chinese Patient [PDF]
Frontiers in Genetics, 2022 DNAJB6 was identified as the causative gene of limb-girdle muscular dystrophy type 1D. In recent years, the phenotypic and molecular spectrum of DNAJB6-myopathy has been expanded, and several mutations of DNAJB6 have been identified in Europe, North ...
Guang Ji +17 more
doaj +2 more sources
An Intronic Heterozygous SYNE2 Splice Site Mutation: A Rare Cause for Myalgia and hyperCKemia? [PDF]
MusclesSYNE2 mutations have been associated with skeletal and cardiac muscle diseases, including Emery-Dreifuss muscular dystrophy (EDMD). Here, we present a 70-year-old male patient with muscle pain and elevated serum creatine kinase levels in whom whole-exome
Theresa Paulus +10 more
doaj +2 more sources
A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly. [PDF]
Biochem Genet, 2023 Zhang C +6 more
europepmc +3 more sources
Aggressive Squamous Cell Carcinoma in a Case of Epidermodysplasia Verruciformis Carrying a TMC6 Splice-site Mutation. [PDF]
Acta Derm Venereol, 2023 Yokoi K +4 more
europepmc +3 more sources