Results 1 to 10 of about 1,070 (210)

A Splice Site Mutation Associated with Congenital CD59 Deficiency

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, Abul Kalam Azad, Kevin Kuan, Xiaoling Guo, Yanhua Wang   +4 more
doaj   +5 more sources

Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site

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, Josianne N. Carriço, Omneya M. Omar, Ebtesam Abdalla, Manuel C. Lemos   +4 more
doaj   +3 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

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, Atsuko Takagi, Yuusei Nakata, Yasuhiko Sera, Sumio Hyoudou, Kazuko Hamamoto, Yoshikazu Nishi, Akira Yamamoto   +7 more
doaj   +3 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

Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption

Molecular Therapy: Nucleic Acids, 2021
Autosomal dominant optic atrophy (ADOA) is frequently caused by mutations in the optic atrophy 1 (OPA1) gene, with haploinsufficiency being the major genetic pathomechanism. Almost 30% of the OPA1-associated cases suffer from splice defects.
Christoph Jüschke, Thomas Klopstock, Claudia B. Catarino, Marta Owczarek-Lipska, Bernd Wissinger, John Neidhardt   +5 more
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, Zhengyan Zhang, Carlo Iomini, Susan K. Dutcher   +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, Elizabeth de Wolf, Nicholas Dale   +2 more
doaj   +1 more source

Modifying splice site usage with ModCon: Maintaining the genetic code while changing the underlying mRNP code

Computational and Structural Biotechnology Journal, 2021
Codon degeneracy of amino acid sequences permits an additional “mRNP code” layer underlying the genetic code that is related to RNA processing. In pre-mRNA splicing, splice site usage is determined by both intrinsic strength and sequence context ...
Johannes Ptok, Lisa Müller, Philipp Niklas Ostermann, Anastasia Ritchie, Alexander T. Dilthey, Stephan Theiss, Heiner Schaal   +6 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, Hela Boudabous, Ibtissem Jaballi, Oussama Grissa, Hadhami Ben Turkia, Neji Tebib, Sandrine Laradi   +6 more
doaj   +1 more source

Activation of cryptic splice sites in three patients with chronic granulomatous disease

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, Karin van Leeuwen, Mathias Hauri‐Hohl, Dirk Roos   +3 more
doaj   +1 more source