Results 61 to 70 of about 880,486 (157)

Whole‐Exome Sequencing Identifies Novel CPAMD8 Variants in Congenital Cataract and Candidate Variants in Pathologic Myopia

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
Whole‐exome sequencing identified compound heterozygous CPAMD8 variants supporting a congenital cataract phenotype in one family and candidate CPAMD8 variants in a second family with pathologic myopia, highlighting the need for segregation and functional validation.
Qiu‐ling Xie, Qiao Wang, Yanan Liu, Teng Huang, Jin Li   +4 more
wiley   +1 more source

Disruption of the SNRPF–DDX24–E2F4 Feedback Loop Uncouples Splicing and Transcriptional Regulation to Suppress Ovarian Cancer Progression

Advanced Science, Volume 13, Issue 44, 7 August 2026.
This study identifies SNRPF as a critical oncogenic driver in ovarian cancer. By regulating a self‐sustaining SNRPF–DDX24–E2F4 feedback loop through intron retention and nonsense‐mediated decay, SNRPF couples RNA splicing with transcriptional regulation to promote tumor progression.
Yingwei Li, Zhongshao Chen, Qianqian Gao, Yuehan Gao, Ning Yang   +4 more
wiley   +1 more source

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

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

Background TP53 variant classification benefits from the availability of large-scale functional data for missense variants generated using cDNA-based assays.
Elena Bueno-Martínez, Eladio A. Velasco-Sampedro, Fortuno, C, Caldes, Sonsoles, Bueno-Martínez, Elena, Cristina Fortuno, Sanoguera-Miralles, L, James, Paul, Lara Sanoguera-Miralles, Bueno-Martínez, E, Hoya, Miguel de la, Sonsoles Caldes, Canson, D., Miguel de la Hoya, Spurdle, Amanda B., Velasco-Sampedro, EA, Llinares-Burguet, Inés, James, PA, Spurdle, AB, Inés Llinares-Burguet, Fortuno, C., Velasco, Eladio, Sanoguera-Miralles, Lara, Daffodil M. Canson, de la Hoya, M, Amanda B. Spurdle, Paul A. James, Llinares-Burguet, I, Canson, DM, Caldes, S   +29 more
core   +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

Identification and functional validation of a novel disease‐causing variant in the noncoding region of NYX

Acta Ophthalmologica, Volume 104, Issue 5, Page e555-e564, August 2026.
Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic, Christelle Michiels, Julien Navarro, Aline Antonio, Christel Condroyer, Camille Andrieu, Billy Gipsy, Sylvie Berthémy‐Pellet, Mathilde Gallice, Isabelle Audo, Christina Zeitz   +10 more
wiley   +1 more source

Protein Disulfide Isomerase Disassembles TDP‐43/G3BP1 Condensates and Antagonizes TDP‐43 Pathological Aggregates

Advanced Science, Volume 13, Issue 38, 9 July 2026.
Cytoplasmic aggregation of TDP‐43 is a common pathological feature in amyotrophic lateral sclerosis, frontotemporal lobar degeneration, and Alzheimer's disease with TDP‐43 pathology. This study reports that wild‐type PDI slows down phase separation of TDP‐43 through direct interaction with TDP‐43.
Jia‐Qi Liu, Hao Liu, Yu‐Xuan Sun, Yuying Li, Xiangyi Liu, Li‐Qiang Wang, Zhaofei Yang, Qi Fu, Xiaojiao Xu, Jie Chen, Yingshuang Zhang, Jun Zhou, Weidong Le, Mengchao Cui, Yi Liang   +14 more
wiley   +1 more source

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

Epilepsia, Volume 67, Issue 7, Page 3657-3673, July 2026.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze, Robyn Whitney, Dorothée Ville, Nathalie Villeneuve, Anna‐Maria Hartmann, Lisa Becker, Jens Hausmann, Jinwei Zhang, Cathy Brier, Lucie I. Pisella, Perrine Friedel, Audrey Labalme, Eudeline Alix, Nicolas Chatron, Damien Sanlaville, Sylvie Gory‐Fauré, Eric Denarier, Christophe Porcher, Gaetan Lesca, Igor Medina   +19 more
wiley   +1 more source

Molecular dynamics and minigene assay of new splicing variant c.4298-20T>A of COL4A5 gene that cause Alport syndrome

, 2023
Introduction: Alport syndrome (AS; OMIM#308940) is a progressive hereditary kidney disease characterized by hearing loss and ocular abnormalities.
Jianrong Zhao, Haotian Wu, Zeyu Cai, Lei Liang   +3 more
core   +1 more source

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