Results 71 to 80 of about 6,757 (149)

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

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 of the MYH6 c.804G>C Synonymous Variant Causing Exon Skipping in a Hypertrophic Cardiomyopathy Family

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
Although in silico tools predicted minimal splicing impact, functional minigene assays demonstrate that the synonymous MYH6 c.804G>C variant induces partial exon 10 skipping (~6.8% in HEK293T cells and ~4.7% in HeLa cells), supporting its potential contribution to HCM pathogenesis.
Songlin Zhang, Xiaohua Tang, Leixiang Yang, Yang Wang, Yong Cui, Xiaopan Chen   +5 more
wiley   +1 more source

Pre‐Encoded IFN‐I Sensitivity Exacerbates Memory T Cell Senescence in Solid Tumors

Advanced Science, Volume 13, Issue 35, 24 June 2026.
Type I interferon (IFN‐I) signaling promotes p21‐dependent cell cycle arrest in senescent tumor‐specific memory T cells, resulting in poor proliferative responses and solid tumor regression during cancer vaccination. Conversely, IFNα/β receptor blockade reinvigorates T cell proliferation to regress solid tumors and is more effective with increasing ...
Andrew Nguyen, Scott R Walsh, Li Deng, Lan Chen, Yonghong Wan   +4 more
wiley   +1 more source

Functional analysis of MEIS2 splice site variant c.438 + 1G>T in a congenital heart patient

Frontiers in Genetics
AimsMEIS2 (NCBI:4212; OMIM:601740) is associated with cleft palate, atrial septal defect, and varying degrees of intellectual disability. The aim of this study is to investigate the value of minigene splicing assay in the diagnosis of congenital heart ...
Chenyu Xu, Junjuan Li, Xinghui Ma, Wenqi Li, Bo Jiang, Hua Bai, Fuhong Wu, Chunlian Liu, Jiwei Gu   +8 more
doaj   +1 more source

NAT10‐mediated N4‐acetylcytidine modification drives RNA splicing of PML to alleviate adipose‐derived stem cell senescence and promote diabetic wound healing

Clinical and Translational Medicine, Volume 16, Issue 6, June 2026.
N‐acetyltransferase 10 (NAT10) catalyses N4‐acetylcytidine (ac4C) modification of PML pre‐mRNA, shifting splicing from the senescence‐promoting PML‐FL to the senescence‐inhibiting PML‐S isoform via SRSF1. This rejuvenates adipose‐derived stem cells (ADSCs) by reducing senescence markers and senescence‐associated secretory phenotype (SASP), thereby ...
Wuhan Wei, Chanyuan Jiang, Dong Zhu, Xuefeng Han, Xuan Ma, Xinyu Jia, Jiaqi Ling, Rui Zhang, Facheng Li, Ningbei Yin   +9 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

UGT1A1 Fragment Analysis: Genotyping the (TA)n Variable Repeat Polymorphism for Clinical Applications

Journal of Clinical Laboratory Analysis, Volume 40, Issue 12, June 2026.
This study developed a PCR‐based fragment analysis assay for UGT1A1 rs3064744 targeting TA5 (*36), TA6 (*1), TA7 (*28), and TA8 (*37). The assay was CLIA validated with data showing 100% concordance and a sensitivity of 0.5 ng/uL. The assay was then implemented in a patient cohort of n = 940 and the results compared with PharmacoScan.
Ryan N. Baugher, Kristen M. Pike, Teri M. Plona, Stephanie D. Mellott, Todd B. Young, Heidi E. Lawhorn, Stephen M. Hewitt   +6 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

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