Results 31 to 40 of about 4,405 (166)

The MSH2 c.793-1G>A variant disrupts normal splicing and is associated with Lynch syndrome

Frontiers in Oncology, 2023
InstructionLynch syndrome (LS) is the most common inherited cancer predisposition disorder of colorectal cancer (CRC) which is associated with pathogenic variants in 4 mismatch repair (MMR) genes.
Yiming Li, Yiming Li, Yiming Li, Lulu Yu, Lulu Yu, Lulu Yu, Jiajia Cui, Jiajia Cui, Jiajia Cui, Jiye Yin, Jiye Yin, Jiye Yin, Wei Wu, Wei Wu, Wei Wu   +14 more
doaj   +1 more source

Functional Classification of BRCA2 DNA Variants by Splicing Assays in a Large Minigene with 9 Exons [PDF]

Human Mutation, 2015
Numerous pathogenic DNA variants impair the splicing mechanism in human genetic diseases. Minigenes are optimal approaches to test variants under the splicing viewpoint without the need of patient samples. We aimed to design a robust minigene construct of the breast cancer gene BRCA2 in order to investigate the impact of variants on splicing.
Acedo, Alberto, Hernández-Moro, Cristina, Curiel-García, Álvaro, Díez-Gómez, Beatriz, Velasco, Eladio   +4 more
openaire   +3 more sources

A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family

Molecular Genetics & Genomic Medicine, 2020
Background Osteogenesis imperfecta (OI), a rare autosomal inheritable disorder characterized by bone fragility and skeletal deformity, is caused by pathogenic variants in genes impairing the synthesis and processing of extracellular matrix protein ...
Yaxin Han, Dongming Wang, Jinli Guo, Qiuhong Xiong, Ping Li, Yong‐An Zhou, Bin Zhao   +6 more
doaj   +1 more source

Minigene Splice Assays Allow Pathogenicity Reclassification of RPE65 Variants of Uncertain Significance [PDF]

Genes
Background/objectives: Obtaining a genetic diagnosis for patients with inherited retinal diseases has become even more important since gene-specific therapies have become available. When genetic screening reveals variants of uncertain significance (VUS), additional evidence is required to determine genetic eligibility for therapy. Confirming the effect
Daan M. Panneman, Erica G. M. Boonen, Zelia Corradi, Frans P. M. Cremers, Susanne Roosing   +4 more
openaire   +3 more sources

Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay [PDF]

Human Mutation, 2020
ABSTRACT Improving the accuracy of variant interpretation during diagnostic sequencing is a major goal for genomic medicine. In order to explore an often overlooked splicing effect of missense variants, we developed the functional assay (“minigene”) for the majority of exons of CAPN3
Dionnet, Eugénie, Defour, Aurélia, da Silva, Nathalie, Salvi, Alexandra, Levy, Nicolas, Krahn, Martin, Bartoli, Marc, Puppo, Francesca, Gorokhova, Svetlana   +8 more
openaire   +2 more sources

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

BMC Genomics, 2023
Abstract Background Autosomal dominant polycystic kidney disease (ADPKD) is a common monogenic multisystem disease caused primarily by mutations in the PKD1 gene or PKD2 gene. There is increasing evidence that some of these variants, which are described as missense, synonymous or nonsense mutations in the literature or ...
Xuyan Liu, Xiaomeng Shi, Qing Xin, Zhiying Liu, Fengjiao Pan, Dan Qiao, Mengke Chen, Yiyin Zhang, Wencong Guo, Changying Li, Yan Zhang, Leping Shao, Ruixiao Zhang   +12 more
openaire   +3 more sources

Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome

Molecular Genetics & Genomic Medicine, 2023
AbstractBackgroundGitelman syndrome (GS) is a type of salt‐losing tubular disease, most of which is caused by SLC12A3 gene variants, and missense variants account for the majority. Recently, the phenomenon of exon skipping, in which variants disrupt normal pre‐mRNA splicing, has been related to a variety of diseases.
Xiaomeng Shi, Hong Wang, Ruixiao Zhang, Zhiying Liu, Wencong Guo, Sai Wang, Xuyan Liu, Yanhua Lang, Irene Bottillo, Bingzi Dong, Leping Shao   +10 more
openaire   +3 more sources

Deltacoronavirus Modulates circRNA cGLIS3 Metabolism to Evade Host Antiviral Response

Advanced Science, EarlyView.
This study reveals that both deltacoronavirus nucleocapsid protein and host RNA binding protein IGF2BP2 promote circular RNA GLIS3 (cGLIS3) biogenesis by binding to GLIS3 pre‐mRNA. The m6A modification‐mediated cGLIS3‐IGF2BP2 interaction weakens RNase L‐mediated degradation of cGLIS3 while facilitates a ubiquitin‐dependent degradation of IGF2BP2, thus ...
Liuyang Du, Liping Wang, Sujing Diao, Juan Li, Lei Zhao, Yan Yan, Haimin Li, Weiren Dong, Wei Wu, Jinyan Gu, Jiyong Zhou   +10 more
wiley   +1 more source

Compound heterozygous splicing and missense variants in MYO7A in a Chinese patient with Usher syndrome

Frontiers in Medicine
ObjectiveThe objectives of the present study were to identify the genetic variations in a Chinese patient with Usher syndrome and to determine the pathogenicity of the identified variations.MethodsWhole-exome sequencing was performed for the proband ...
Juyi Li, Huihui Mao, Lu Li, Xiufang Wang, Guohua Yang, Jiguo Yu, Aiping Deng, Jifa Hu, Dan Wu, Peiyan Zhan, Yingbo Li   +10 more
doaj   +1 more source

Investigating the molecular basis of the serological Rh D‐negative phenotype in Indonesia: nature, frequency, and impact for diagnostics

Transfusion, EarlyView.
Abstract Background Although widely studied and reported for more than 30 years, the molecular basis of Rh D‐negativity has remained unexplored in several regions of the world, including in Indonesia, Southeast Asia. Study Design and Methods A subset of 436 Indonesian blood donors originally typed D‐negative (D–) by routine serological testing was ...
Tonny Wongso, Teguh Triyono, Caroline Bénech, Gauthier Thomas, Sasi Widuri, Martono Adi Triyogo, Ni Kadek Mulyantari, Misnah Syarifuddin, Halimi Maksum, Winda Astuti Taruno, Hasna Fadlilatul Bidayah, Yann Fichou   +11 more
wiley   +1 more source