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
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
Novel compound heterozygous mutations for lipoprotein lipase deficiency: a G-to-T transversion at the first position of exon 5 causing G154V missense mutation and a 5′ splice site mutation of intron 8 [PDF]
Journal of Lipid Research, 2001 We systematically investigated the molecular defects causing a primary LPL deficiency in a Japanese male infant (patient DI) with fasting hyperchylomicronemia (type I hyperlipoproteinemia) and in his parents.
Yasuyuki Ikeda +7 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
Novel Splice Site Mutation in the PROS1 Gene in a Polish Patient with Venous Thromboembolism: c.602-2delA, Splice Acceptor Site of Exon 7 [PDF]
Medicina, 2020 We identified a novel splice site mutation of the PROS1 gene in a Polish family with protein S (PS) deficiency and explored the molecular pathogenesis of this previously undescribed variant.
Magdalena Mrożek +4 more
doaj +2 more sources
Mutations in the Caenorhabditis elegans U2AF large subunit UAF-1 alter the choice of a 3' splice site in vivo. [PDF]
PLoS Genetics, 2009 The removal of introns from eukaryotic RNA transcripts requires the activities of five multi-component ribonucleoprotein complexes and numerous associated proteins.
Long Ma, H Robert Horvitz
doaj +1 more source
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 +1 more source
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 +1 more source
Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome
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 +1 more source
Identification of a novel splicing‐altering LAMP2 variant in a Chinese family with Danon disease
ESC Heart Failure, 2023 Aims This study aimed to identify a novel splicing‐altering LAMP2 variant associated with Danon disease. Methods and results To identify the potential genetic mutation in a Chinese pedigree, whole‐exome sequencing was conducted in the proband, and Sanger
Di Fu +4 more
doaj +1 more source