Results 21 to 30 of about 6,757 (149)

Splicing Outcomes of 5′ Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing Assays

Frontiers in Genetics, 2021
Combining data derived from a meta-analysis of human disease-associated 5′ splice site GT>GC (i.e., +2T>C) variants and a cell culture-based full-length gene splicing assay (FLGSA) of forward engineered +2T>C substitutions, we recently estimated
Jin-Huan Lin, Jin-Huan Lin, Hao Wu, Hao Wu, Wen-Bin Zou, Wen-Bin Zou, Emmanuelle Masson, Emmanuelle Masson, Yann Fichou, Yann Fichou, Gerald Le Gac, Gerald Le Gac, Gerald Le Gac, David N. Cooper, Claude Férec, Claude Férec, Zhuan Liao, Zhuan Liao, Jian-Min Chen   +18 more
doaj   +1 more source

EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden. [PDF]

Sci Rep, 2021
Abstract Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited retinal degenerations. The ortholog of Drosophila eyes shut/spacemaker, EYS on chromosome 6q12 is a major genetic cause of recessive RP worldwide, with prevalence of 5 to 30%.
Westin IM, Jonsson F, Österman L, Holmberg M, Burstedt M, Golovleva I.   +5 more
europepmc   +7 more sources

Molecular analysis of eight splicing variants in the hydroxymethylbilane synthase gene

Frontiers in Genetics, 2023
Background: Molecular genetic testing is the most sensitive and specific method to confirm acute intermittent porphyria (AIP), a rare autosomal dominant disease, caused by Hydroxymethylbilane synthase (HMBS) gene mutation.
Yi Ren, Jiajia Wang, Shuang Li, Jiajia Lei, Yunfeng Liu, Yan Wang, Fei Gao, Jianhong Wang, Jianhong Yin, Jing Yang   +9 more
doaj   +1 more source

Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay. [PDF]

Mol Genet Genomic Med
AbstractBackgroundX‐linked Alport syndrome (XLAS) is an inherited renal disease caused by rare variants of COL4A5 on chromosome Xq22. Many studies have indicated that single nucleotide variants (SNVs) in exons can disrupt normal splicing process of the pre‐mRNA by altering various splicing regulatory signals.
Zhang R, Lang Y, Shi X, Zhang Y, Liu X, Pan F, Qiao D, Teng X, Shao L.   +8 more
europepmc   +4 more sources

Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays [PDF]

Frontiers in Genetics, 2018
Genetic testing of BRCA1 and BRCA2 identifies a large number of variants of uncertain clinical significance whose functional and clinical interpretations pose a challenge for genetic counseling. Interestingly, a relevant fraction of DNA variants can disrupt the splicing process in cancer susceptibility genes.
Eugenia Fraile-Bethencourt, Alberto Valenzuela-Palomo, Beatriz Díez-Gómez, Alberto Acedo, Alberto Acedo, Eladio A. Velasco   +5 more
openaire   +4 more sources

Three intronic variants altering RNA splicing were identified in the CLCN5 gene by minigene assay. [PDF]

BMC Med Genomics
Background: The Dent disease 1 is a rarely inherited renal tubular disease caused by variants in the CLCN5 gene. Increasing evidence suggests that many intronic variants can affect the normal splicing of pre-mRNA by altering various splicing regulatory signals. Therefore, this study aims to provide novel insights into the impact of intronic variants of
Qiao D, Liu X, Bottillo I, Zhang R, Shao L.   +4 more
europepmc   +4 more sources

Novel Splice Site Pathogenic Variant of EFTUD2 Is Associated with Mandibulofacial Dysostosis with Microcephaly and Extracranial Symptoms in Korea

Diagnostics, 2020
Elongation factor Tu guanosine-5’-triphosphate (GTP) binding domain containing 2 (EFTUD2) encodes a major component of the spliceosomal GTPase and, if mutated, causes mandibulofacial dysostosis with microcephaly (MFDM; MIM#610536). Despite the increasing
So Young Kim, Da-hye Lee, Jin Hee Han, Byung Yoon Choi   +3 more
doaj   +1 more source

A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy

Annals of Clinical and Translational Neurology, 2020
Objective To identify the genetic cause in an adult ovarioleukodystrophy patient resistant to diagnosis. Methods We applied whole‐exome sequencing (WES) to a vanishing white matter disease patient associated with premature ovarian failure at 26 years of ...
Agustí Rodríguez‐Palmero, Agatha Schlüter, Edgard Verdura, Montserrat Ruiz, Juan José Martínez, Isabelle Gourlaouen, Chandran Ka, Ricardo Lobato, Carlos Casasnovas, Gérald Le Gac, Stéphane Fourcade, Aurora Pujol   +11 more
doaj   +1 more source

Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A [PDF]

International Journal of Molecular Sciences, 2022
Non-canonical splice site variants are increasingly recognized as a relevant cause of the USH2A-associated diseases, non-syndromic autosomal recessive retinitis pigmentosa and Usher syndrome type 2. Many non-canonical splice site variants have been reported in public databases, but an effect on pre-mRNA splicing has only been functionally verified for ...
Reurink, J.A., Reurink, J.A., Oostrik, J., Oostrik, J., Aben, M.J., Ramos, Mariana Guimarães, van Berkel, Emma, Ołdak, M., van WIjk, E., van WIjk, E., Kremer, H., Kremer, H., Roosing, S., Cremers, F.P.M.   +13 more
openaire   +2 more sources

A novel PKHD1 splicing variant identified in a fetus with autosomal recessive polycystic kidney disease

Frontiers in Genetics, 2023
Objective: Variants of the polycystic kidney and hepatic disease 1 (PKHD1) gene are associated with autosomal recessive polycystic kidney disease (ARPKD).
Mingzhu Miao, Liqun Feng, Jue Wang, Cheng Xu, Xiaotian Su, Guoying Zhang, Shoulian Lu   +6 more
doaj   +1 more source