Results 1 to 10 of about 806,334 (155)

LAMB2 novel variant c.2885‐9 C>A affects RNA splicing in a minigene assay [PDF]

Molecular Genetics & Genomic Medicine, 2021
Background Both Pierson syndrome (PS) and isolated nephrotic syndrome can be caused by LAMB2 biallelic pathogenic variants. Only 15 causative splicing variants in the LAMB2 gene have been reported. However, the pathogenicity of most of these variants has
Xiaoyuan Wang, Huijie Xiao, Baige Su, Yali Ren, Jie Ding, Fang Wang   +5 more
doaj   +3 more sources

Pathogenic evaluation of synonymous COL4A5 variants in X‐linked Alport syndrome using a minigene assay [PDF]

Molecular Genetics & Genomic Medicine, 2020
Background X‐linked Alport syndrome (XLAS) is a progressive, hereditary glomerular nephritis of variable severity caused by pathogenic COL4A5 variants. Currently, genetic testing is widely used for diagnosing XLAS; however, determining the pathogenicity ...
Tomoko Horinouchi, Tomohiko Yamamura, Shogo Minamikawa, China Nagano, Nana Sakakibara, Koichi Nakanishi, Yuko Shima, Naoya Morisada, Shinya Ishiko, Yuya Aoto, Hiroaki Nagase, Hiroki Takeda, Rini Rossanti, Shingo Ishimori, Hiroshi Kaito, Masafumi Matsuo, Kazumoto Iijima, Kandai Nozu   +17 more
doaj   +3 more sources

Functional analysis of BRCA1 and BRCA2 splicing variants using a minigene assay [PDF]

Human Genomics
Background BRCA1 and BRCA2, known as tumor suppressor genes, have been shown to increase the risk of developing breast and ovarian cancer. Intronic variants that can result in aberrant splicing events are classified as Variant uncertain significance ...
Sung Im Cho, Moon-Woo Seong, Joowon Jang
exaly   +3 more sources

Three exonic variants in the PHEX gene cause aberrant splicing in a minigene assay [PDF]

Frontiers in Genetics
Background: X-linked hypophosphatemia (XLH, OMIM 307800) is a rare phosphorus metabolism disorder caused by PHEX gene variants. Many variants simply classified as missense or nonsense variants were only analyzed at the DNA level.
Fengjiao Pan, Ruixiao Zhang, Xuyan Liu, Xiaomeng Shi, Qing Xin, Qing Xin, Dan Qiao, Changying Li, Yan Zhang, Mengke Chen, Wencong Guo, Wencong Guo, Shufang Luan, Leping Shao, Leping Shao   +14 more
doaj   +4 more sources

Functional evaluation of rare variants in complement factor I using a minigene assay [PDF]

Frontiers in Immunology
The regulatory serine protease, complement factor I (FI), in conjunction with one of its cofactors (FH, C4BP, MCP, or CR1), plays an essential role in controlling complement activity through inactivation of C3b and C4b.
Cobey J. H. Donelson, Nicolo Ghiringhelli Borsa, Amanda O. Taylor, Richard J. H. Smith, Yuzhou Zhang   +4 more
doaj   +4 more sources

Identified five variants in CFTR gene that alter RNA splicing by minigene assay [PDF]

Frontiers in Genetics
BackgroundCystic fibrosis (CF) is a common monogenic multisystem disease caused primarily by variants in the CFTR gene. Emerging evidence suggests that some variants, which are described as missense, synonymous or nonsense variants in the literature or ...
Leping Shao, Xuyan Liu
exaly   +4 more sources

Minigene Assay to Evaluate CRISPR/Cas9-based Excision of Intronic Mutations that Cause Aberrant Splicing in Human Cells [PDF]

Bio-Protocol, 2019
The construction of Hybrid minigenes provides a robust and simple strategy to study the effects of disease-causing mutations on mRNA splicing when biological material from patient cells is not available.
David Sanz, Patrick Harrison
doaj   +2 more sources

A novel deep intronic COL5A1 variant in an Ehlers-Danlos syndrome family: functional characterization by minigene assay [PDF]

Scientific Reports
This study aimed to identify the genetic cause of Ehlers-Danlos syndrome (EDS) in a Chinese family and to evaluate the functional impact of a deep intronic COL5A1 variant using a minigene assay.
Jie Zhao, Jingjing Feng
doaj   +2 more sources

Compound heterozygous splicing and missense variants in MYO7A in a Chinese patient with Usher syndrome [PDF]

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   +2 more sources

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

Mol Genet Genomic Med
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.
Liu Q, Cheng X, Zheng B, Wang C, Zhou W, Zhang A.   +5 more
europepmc   +2 more sources