Results 61 to 70 of about 806,334 (155)

Hemizygous splicing variant in CNKSR2 results in X‐linked intellectual developmental disorder

Molecular Genetics & Genomic Medicine
Background Intellectual disability (ID) refers to a childhood‐onset neurodevelopmental disorder with a prevalence of approximately 1%–3%. Methods We performed whole exome sequencing for the patient with ID. And the splicing variant we found was validated
Yuting Lou, Xinglei Shi, Guofa Su, Yufan Guo, Liuyan Gao, Ye Wang, Pu Miao, Jianhua Feng   +7 more
doaj   +1 more source

RNA‐Binding Proteins: Function, Biological Mechanisms, and Therapeutic Opportunities

MedComm, Volume 7, Issue 9, September 2026.
RNA‐binding proteins (RBPs) regulate RNA stability, localization, translation, and splicing through intrinsic binding domains and interactions with diverse cellular partners. Their competitive and cooperative networks shape disease‐related RNA programs, especially in cancer.
Ling Li, Xiuli Yan, Qing Ji, Hui Zhang
wiley   +1 more source

Identification of a novel intronic mutation of MAGED2 gene in a Chinese family with antenatal Bartter syndrome

BMC Medical Genomics
Background Antenatal Bartter syndrome is a life-threatening disease caused by a mutation in the MAGED2 gene located on chromosome Xp11. It is characterized by severe polyhydramnios and extreme prematurity. While most reported mutations are located in the
Xu Yan, Yueyue Hu, Xin Zhang, Xia Gao, Yang Zhao, Haiying Peng, Liu Ouyang, Changjun Zhang   +7 more
doaj   +1 more source

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

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

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

Unraveling the Functional Impact of Splicing Variants in Inherited Hearing Disorders Through Minigene Splicing Assays

Biomedicines
Background/Objectives: Hereditary hearing loss (HHL) is a genetically heterogeneous condition, involving more than 150 genes in non-syndromic cases and associated with over 400 distinct disorders in syndromic forms.
Lara Emily Rosso, Giulia Pianigiani, Anna Morgan, Elisa Rubinato, Elisa Paccagnella, Stefania Lenarduzzi, Anita Wischmeijer, Beatrice Spedicati, Giorgia Girotto   +8 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 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

Selection-Assay

, 2023
An in vitro selection assay was devlepoved to design small gRNAs that  can promote efficient A to I conversion using human ADAR2. This repository contains raw fastqc data for each round of the selection  assay, as well as the script used to analyse the ...
Juan Diaz (14557940)
core   +1 more source