Results 61 to 70 of about 4,405 (166)

Mis‐splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays

The Journal of Pathology, 2019
AbstractSplicing disruption is a common mechanism of gene inactivation associated with germline variants of susceptibility genes. To study the role of BRCA2 mis‐splicing in hereditary breast/ovarian cancer (HBOC), we performed a comprehensive analysis of variants from BRCA2 exons 2–9, as well as the initial characterization of the regulatory mechanisms
Eugenia Fraile‐Bethencourt, Alberto Valenzuela‐Palomo, Beatriz Díez‐Gómez, Elisa Goina, Alberto Acedo, Emanuele Buratti, Eladio A Velasco   +6 more
openaire   +3 more sources

A novel phenotype with splicing mutation identified in a Chinese family with desminopathy

Chinese Medical Journal, 2019
. Background:. Desminopathy, a hereditary myofibrillar myopathy, mainly results from the desmin gene (DES) mutations. Desminopathy involves various phenotypes, mainly including different cardiomyopathies, skeletal myopathy, and arrhythmia.
Peng Fan, Chao-Xia Lu, Xue-Qi Dong, Di Zhu, Kun-Qi Yang, Ke-Qiang Liu, Di Zhang, Ying Zhang, Xu Meng, Hui-Qiong Tan, Li-Tian Yu, Ke-Fei Dou, Ya-Xin Liu, Xue Zhang, Xian-Liang Zhou, Yi Cui   +15 more
doaj   +1 more source

Deep intronic ANK1 variants causing pseudo‐exon inclusion in hereditary spherocytosis: Whole‐genome sequencing and functional assessment

British Journal of Haematology, EarlyView.
Victor Marin, Alexandre Janin, Céline Renoux, Yoann Huguenin, AURAGEN consortium, Stéphanie Dulucq, Louis Lebreton, Philippe Joly, Julian Boutin   +8 more
wiley   +1 more source

Identified five variants in CFTR gene that alter RNA splicing by minigene assay

Frontiers in Genetics
BackgroundCystic fibrosis (CF) is a common monogenic multisystem disease caused primarily by variants in the CFTR gene. Emerging evidence suggests that some variants, which are described as missense, synonymous or nonsense variants in the literature or databases, may be deleterious by affecting the pre-mRNA splicing process.MethodsWe analyzed 27 exonic
Bingying Zhang, Bingying Zhang, Yiyin Zhang, Yan Zhang, Xuyan Liu, Ran Zhang, Zhi Wang, Fengjiao Pan, Ning Xu, Leping Shao   +9 more
openaire   +3 more sources

Clinical and Genetic Characterization of Inherited NPRL3 Splice Variants in Two Patients With Epilepsy

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
This study identifies two novel inherited NPRL3 splice variants in Chinese pediatric patients with focal epilepsy, revealing significant genetic heterogeneity, incomplete penetrance, and phenotypic variability that underscores the importance of tailored antiepileptic management.
Shouxing Wang, Jihua Wu, Conglei Song, Yuanzhi He, Zhongli Zhao, Bin Yang   +5 more
wiley   +1 more source

Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays

Human Genomics
Abstract Background TP53 variant classification benefits from the availability of large-scale functional data for missense variants generated using cDNA-based assays. However, absence of comprehensive splicing assay data for TP53 confounds the classification of the subset of predicted missense and synonymous variants ...
Fortuno, Cristina, Llinares-Burguet, Ines, Canson, Daffodil M., de la Hoya, Miguel, Bueno-Martinez, Elena, Sanoguera-Miralles, Lara, Caldes, Sonsoles, James, Paul A., Velasco-Sampedro, Eladio A., Spurdle, Amanda B.   +9 more
openaire   +6 more sources

Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159‐9T>A, in a Chinese patient with mucopolysaccharidosis type I

Molecular Genetics & Genomic Medicine
Background Mucopolysaccharidosis type I (MPS‐I) is a rare autosomal recessive genetic lysosomal storage disorder that is caused by pathogenic variants of the α‐L‐iduronidase (IDUA) gene.
Lulu Yan, Shuxia Ding, Yan He, Bin Fu, Changshui Chen, Haibo Li   +5 more
doaj   +1 more source

Genetic Control of Tissue Remodeling by a Non‐Coding SNP in ITGA8 Explains Carotenoid‐Based Color Polymorphism in Marine Mollusks

Advanced Science, Volume 13, Issue 27, 13 May 2026.
In this study, the orange‐muscle giant abalone (Haliotis gigantea) is used as a model to identify a non‐coding SNP that disrupts the interaction between ITGA8 pre‐mRNA and the splicing factor ILF2, leading to altered ITGA8 splicing. These splicing changes promote carotenoid accumulation in abalone muscle through the regulation of tissue remodeling ...
Xiaohui Wei, Wenzhu Peng, Zekun Huang, Bingye Yang, Yiyu Wu, Minzhen Han, Yi Wang, Bingling Peng, Guosheng Hu, Jiawei Hong, Guijia Liu, Linwei Nie, Yang Gan, Miaoqin Huang, Xuan Luo, Weiwei You, Wen Liu, Caihuan Ke   +17 more
wiley   +1 more source

Molecular dynamics and minigene assay of a splicing COL4A5 gene variant causing Alport syndrome

, 2022
Abstract Alport syndrome (AS; OMIM#308940) is a progressive hereditary kidney disease characterized by hearing loss and ocular abnormalities. According to the mode of inheritance, AS has three subtypes: X-linked (XL; OMIM#301050), autosomal recessive (AR; OMIM#203780), and autosomal dominant (AD; OMIM#104200).
Lei Liang, Haotian Wu, Zeyu Cai, Jianrong Zhao   +3 more
openaire   +1 more source

Stable β2‐Microglobulin–HLA Class I Association Reshapes the Antigenic Landscape and TCR Recognition of Cancer‐Associated Epitopes

European Journal of Immunology, Volume 56, Issue 5, May 2026.
We investigated differences in peptide repertoire when β2‐microglobulin is fused to the HLA‐I heavy chain. We observed: (1) that immunopeptidomes changed in this condition, (2) an overall increased median IC50 of the entire peptide repertoire, and (3) a reduced presentation of cancer‐specific epitopes with a strong predicted binding affinity for HLA‐I.
Ana Barajas Molina, Yehor Horokhovskyi, Nicole Acuti, Yee Kien Chong, Meghna Phanichkrivalkosil, Sophie Siddons, Hassnae Afrache, Megan Maloney, Wai Tuck Soh, Tom Hofland, Callum Hall, Henning Urlaub, George Kassiotis, Juliane Liepe, Michele Mishto   +14 more
wiley   +1 more source