Results 11 to 20 of about 806,334 (155)

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

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   +2 more sources

Validating the splicing effect of rare variants in the SLC26A4 gene using minigene assay [PDF]

BMC Medical Genomics
Background The SLC26A4 gene is the second most common cause of hereditary hearing loss in human. The aim of this study was to utilize the minigene assay in order to identify pathogenic variants of SLC26A4 associated with enlarged vestibular aqueduct (EVA)
Yixin Zhao, Yan Long, Tao Shi, Xin Ma, Chengyu Lian, Hanjun Wang, Hongen Xu, Lisheng Yu, Xiaotao Zhao   +8 more
doaj   +2 more sources

Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants. [PDF]

Cancers (Basel), 2021
Neurofibromatosis type 1 (NF1) is caused by heterozygous loss of function mutations in the NF1 gene. Although patients are diagnosed according to clinical criteria and few genotype-phenotype correlations are known, molecular analysis remains important ...
Morbidoni V, Baschiera E, Forzan M, Fumini V, Ali DS, Giorgi G, Buson L, Desbats MA, Cassina M, Clementi M, Salviati L, Trevisson E.   +11 more
europepmc   +3 more sources

Case report: Successful PGT-M based on the identification of a spliceogenic variant in the RPGRIP1L gene through Minigene assay [PDF]

Frontiers in Genetics
With the development of high-throughput sequencing, the genetic etiology of many diseases has been revealed. However, this has also led to the categorization of many variants as variants of uncertain significance (VUSs), presenting a major challenge in ...
Huiling Xu, Jiajie Pu, Zhengzhong Wu, Shuhan Guo, Xuemei Li   +4 more
doaj   +2 more sources

Functional evidence for SCN8A splice-donor variant c.4419+1 A > G causing loss of function [PDF]

Human Genome Variation
We report a child with severe developmental and epileptic encephalopathy carrying a rare SCN8A splice‑site variant. Although its pathogenicity was initially unclear, a minigene assay demonstrated aberrant splicing, indicating a loss‑of‑function mechanism.
Takashi Shibata, Tomoyuki Akiyama, Takuma Harasaki, Sachiko Miyamoto, Hirotomo Saitsu, Toshiki Takenouchi   +5 more
doaj   +2 more sources

Identified eleven exon variants in PKD1 and PKD2 genes that altered RNA splicing by minigene assay. [PDF]

BMC Genomics, 2023
Background Autosomal dominant polycystic kidney disease (ADPKD) is a common monogenic multisystem disease caused primarily by mutations in the PKD1 gene or PKD2 gene.
Liu X, Shi X, Xin Q, Liu Z, Pan F, Qiao D, Chen M, Zhang Y, Guo W, Li C, Zhang Y, Shao L, Zhang R.   +12 more
europepmc   +2 more sources

Functional analysis by minigene assay of putative splicing variants found in Bardet–Biedl syndrome patients [PDF]

Journal of Cellular and Molecular Medicine, 2017
Sheila Castro-Sánchez, Guillermo Pousada, Diana Valverde   +2 more
exaly   +2 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

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