Results 41 to 50 of about 4,405 (166)

Identification of a novel splicing‐altering LAMP2 variant in a Chinese family with Danon disease

ESC Heart Failure, 2023
Aims This study aimed to identify a novel splicing‐altering LAMP2 variant associated with Danon disease. Methods and results To identify the potential genetic mutation in a Chinese pedigree, whole‐exome sequencing was conducted in the proband, and Sanger
Di Fu, Shuai Wang, Yonghong Luo, Sha Wu, Daoquan Peng   +4 more
doaj   +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

Functional analysis of splice site mutations in the human hairless (HR) gene using a minigene assay [PDF]

British Journal of Dermatology, 2011
SummaryBackground Congenital atrichia is a rare autosomal recessive form of isolated alopecia which is caused by mutations in the human hairless (HR) gene. Patients are born with normal hair that is shed almost completely and irreversibly during the first weeks of life.Objectives To investigate the molecular genetic basis of congenital atrichia in two ...
Refke, M., Pasternack, S.M., Fiebig, B., Wenzel, S., Ishorst, N., Ludwig, M., Nothen, Markus, Seijger, M.M.B., Hamel, B.C.J., Betz, R.C.   +9 more
openaire   +3 more sources

Identification of the RHD novel allele c. 801+2T>G and study of its effect on RhD phenotype in vitro

Zhongguo shuxue zazhi
[Objective] To further identify the RhD phenotype and RHD genotype in the individual who have RhD negative phenotype in the primary screening, and to analyze the effect of c. 801+2T>G mutation on RhD phenotype by minigene splicing assay.
JIA Shuangshuang, WEN Jizhi, WEI Ling, ZHANG Runqing, LUO Guangping, JI Yanli   +5 more
doaj   +1 more source

Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family

Molecular Genetics & Genomic Medicine, 2022
Background Hereditary multiple exostosis (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple cartilage‐covered tumors on the external surfaces of bones (osteochondromas).
Jianwei Li, Zhiqiang Wang, Yaxin Han, Chengfang Jin, Dalin Cheng, Yong‐An Zhou, Junping Zhen   +6 more
doaj   +1 more source

A novel PKHD1 splicing variant identified in a fetus with autosomal recessive polycystic kidney disease

Frontiers in Genetics, 2023
Objective: Variants of the polycystic kidney and hepatic disease 1 (PKHD1) gene are associated with autosomal recessive polycystic kidney disease (ARPKD).
Mingzhu Miao, Liqun Feng, Jue Wang, Cheng Xu, Xiaotian Su, Guoying Zhang, Shoulian Lu   +6 more
doaj   +1 more source

Rare Biallelic CTU2 Variants in an Individual With CAKUT: Clinical Characterization and Minigene Splicing Analysis

Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.
Exome sequencing in 200 CAKUT patients identified compound heterozygous rare CTU2 variants in one renal‐predominant case. Minigene splicing assays showed c.913C>T partially increased exon 9 skipping, supporting further case collection and kidney‐relevant studies to clarify the role of CTU2 in renal developmental phenotypes.
Qian Liu, Xueqin Cheng, Bixia Zheng, Chunli Wang, Wei Zhou, Aihua Zhang   +5 more
wiley   +1 more source

Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C

Cancers, 2022
RAD51C loss-of-function variants are associated with an increased risk of breast and ovarian cancers. Likewise, splicing disruptions are a frequent mechanism of gene inactivation. Taking advantage of a previous splicing-reporter minigene with exons 2-8 (mgR51C_ex2-8), we proceeded to check its impact on the splicing of candidate ClinVar variants.
Lara Sanoguera-Miralles, Elena Bueno-Martínez, Alberto Valenzuela-Palomo, Ada Esteban-Sánchez, Inés Llinares-Burguet, Pedro Pérez-Segura, Alicia García-Álvarez, Miguel de la Hoya, Eladio A. Velasco-Sampedro   +8 more
openaire   +4 more sources

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

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