Results 81 to 90 of about 6,757 (149)

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

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

Minigene-based splice assays provide new insights on intronic variants of the PKHD1 gene

Human Genomics
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare hereditary disorder caused by variants in PKHD1. Currently, aberrant splicing has been reported to play important roles in genetic disease. Our goal is to analyze intronic variants in PKHD1 at the mRNA level.The 12 candidate variants were introduced into the corresponding minigene and ...
Yiyin Zhang, Ran Zhang, Xiaomeng Shi, Xuyan Liu, Changying Li, Yan Zhang, Zhi Wang, Dan Qiao, Fengjiao Pan, Bingying Zhang, Ning Xu, Bingzi Dong, Leping Shao   +12 more
openaire   +3 more sources

Novel biallelic splicing and deletion variants of ADAMTS3 found in adult patients with Hennekam lymphangiectasia-lymphedema syndrome 3

BMJ Connections Clinical Genetics and Genomics
Background ADAM metallopeptidase with thrombospondin type 1 motif 3 (ADAMTS3) is one of the causative genes for the Hennekam lymphangiectasia-lymphedema syndrome (HKLLS), an autosomal recessive genetic disorder. Here, we reported novel biallelic variants
Yoichi Matsubara, Masahiro Sato, Arisa Igarashi, Yoshio Makita, Nana Kobayashi, Yukimi Abe, Taiga Aoki, Takaya Iida, Masahiko Yamamori, Kumiko Yanagi, Kazuhito Sato, Tadashi Kaname   +11 more
doaj   +1 more source

Detection of pathogenic novel intronic splicing variants in the KIDINS220 gene causes motor developmental delay

Artificial Cells, Nanomedicine, and Biotechnology
Pathogenic variants in the KIDINS220 gene can cause SINO syndrome (OMIM #617296), VENARG syndrome (OMIM #619501), or other neurological and metabolic disorders such as obesity and nystagmus.
Lu Bai, Yu Hei, Rujin Tian, Haozheng Zhang, Hongmei Xin, Yanan Yang, Lili Ge, Yuqiang Lv, Xiao Mu, Zhongtao Gai, Guohua Liu, Lifen Gao, Kaihui Zhang   +12 more
doaj   +1 more source

Splicing defects and CRISPR-Cas9 correction in isogenic homozygous photoreceptor precursors harboring clustered deep-intronic ABCA4 variants

Molecular Therapy: Nucleic Acids
Splicing defects from deep-intronic variants significantly contribute to the mutational spectrum in ABCA4-associated inherited retinal diseases, necessitating functional validation for their pathological classification.
Pietro De Angeli, Arturo Flores-Tufiño, Katarina Stingl, Laura Kühlewein, Eleonora Roschi, Bernd Wissinger, Susanne Kohl   +6 more
doaj   +1 more source

Functional analyses of splice site variants in TCF12

Human Genomics
Pre-mRNA splicing is a fundamental step in protein synthesis within a cell. Malfunctions during this process can lead to dysfunctional proteins and thus, to a variety of different human diseases. Mis-splicing can be caused by genetic variants influencing
Angela Borst, Tilmann Schweitzer, Denise Horn, Erdmute Kunstmann, Eva-Maria König, Natalie Pluta, Eva Klopocki   +6 more
doaj   +1 more source

A comprehensive splicing characterization of COL4A5 mutations and prognostic significance in a single cohort with X-linked alport syndrome

Frontiers in Genetics
IntroductionX-linked Alport syndrome (XLAS), caused by mutations in the COL4A5 gene, is an X-linked hereditary disease typically characterized by renal failure, hearing loss, and ocular abnormalities.
Haomiao Li, Shengnan Zhang, Wei Zhou, Chunli Wang, Chunhua Zhu, Sanlong Zhao, Fei Zhao, Zhanjun Jia, Aihua Zhang, Bixia Zheng, Guixia Ding   +10 more
doaj   +1 more source

Decipher RNA isoform combinations from minigene splicing assays and massive parallel sequencing with MAGIC

Bioinformatics
Abstract Summary Functional testing of RNA using minigene splicing assays is increasingly being realized to demonstrate the effects of variants on splicing. In complex cases, variant pathogenicity is assessed by Sanger sequencing, which can be time consuming and may be replaced by short read ...
Camille Aucouturier, Nicolas Goardon, Laurent Castéra, Alexandre Atkinson, Thibaut Lavolé, Angélina Legros, Agathe Ricou, Flavie Boulouard, Sophie Krieger, Raphaël Leman   +9 more
openaire   +2 more sources

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

Front Genet, 2023
Liang L, Wu H, Cai Z, Zhao J.
europepmc   +1 more source