Results 1 to 10 of about 4,405 (166)

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 ...
Hara Yim, Seonhoo Youn, Seung Won Chae, Yeseul Kim, Joowon Jang, Sung Im Cho, Jee-Soo Lee, Moon-woo Seong   +7 more
doaj   +6 more sources

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

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   +5 more sources

A novel homozygous ARFGEF2 splice-site variant causing periventricular nodular heterotopia with microcephaly [PDF]

Frontiers in Pediatrics
BackgroundThe ARFGEF2 gene encodes the brefeldin A (BFA)-inhibited GEF2 protein (BIG2), which is distributed in the trans-Golgi network and plays a crucial role in neuronal proliferation and migration during cortical development through its regulation of
Xuefang Liu, Xuefang Liu, Xuefang Liu, Lingyu Pang, Lingyu Pang, Lingyu Pang, Jingjie Li, Jingjie Li, Jingjie Li, Jing Zhang, Jing Zhang, Jing Zhang, Wenjuan Wu, Wenjuan Wu, Wenjuan Wu, Xin Li, Xin Li, Xin Li, Yubing Gong, Yubing Gong, Yubing Gong, Yueying Dou, Yueying Dou, Yueying Dou, Fang Chen, Fang Chen, Fang Chen, Suzhen Sun, Suzhen Sun, Suzhen Sun   +29 more
doaj   +2 more sources

Genetic Analysis of Pitt-Hopkins Syndrome Caused by a Novel Splicing Variant (c.1146+3A>T) in the TCF4 Gene. [PDF]

Mol Genet Genomic Med
A novel pathogenic splicing variant (TCF4c.1146+3A>T) was identified in a fetus with increased nuchal translucency. The variant disrupts normal splicing, causing exon 14 skipping and protein truncation, which is consistent with Pitt–Hopkins Syndrome.
Shen W, Zhang Y, Wu J, Zhao J, Lv Y, Tang X.   +5 more
europepmc   +2 more sources

Functional reassessment of extended splice region variants in MYO7A with hearing loss and Usher syndrome. [PDF]

J Pathol
Abstract MYO7A is a causal gene, underlying Usher syndrome type 1B (USH1B) and both autosomal recessive (DFNB2) and dominant (DFNA11) non‐syndromic hearing loss. Despite the large number of reported MYO7A variants (over 2,200), variants located in an extended splice region remain difficult to interpret and are often classified as variants of uncertain ...
Shi T, Huang Y, Su X, Yu L, Zhao Y, Cheng J.   +5 more
europepmc   +2 more sources

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

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

A Novel Intronic Variant Causes Aberrant Splicing of PCDH15 in a Family With Usher Syndrome Type 1F [PDF]

Molecular Genetics & Genomic Medicine
Objective Variants of the proto‐cadherin 15 (PCDH15) gene are related to Usher syndrome type 1F (USH1F). The purpose of this study was to determine the genetic etiology of a USH1F family in China and to perform a minigene assay for the PCDH15 gene to ...
Qifan Ma, Chenyang Xu, Xueqin Xu, Yanbao Xiang   +3 more
doaj   +2 more sources

Minigene-based splicing analysis uncovers pathogenic splice-altering effects of PAX2 [PDF]

BMC Pediatrics
Background Missense variants in disease-associated genes cause aberrant pre-mRNA splicing, carrying profound implications for molecular diagnostics, pathogenic mechanism elucidation, and personalized therapy development.
Dongxuan Chi, Ke Xu, Yali Ren, Jie Ding, Fang Wang   +4 more
doaj   +2 more sources

Splicing Outcomes of 5′ Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing Assays

Frontiers in Genetics, 2021
Combining data derived from a meta-analysis of human disease-associated 5′ splice site GT>GC (i.e., +2T>C) variants and a cell culture-based full-length gene splicing assay (FLGSA) of forward engineered +2T>C substitutions, we recently estimated
Jin-Huan Lin, Jin-Huan Lin, Hao Wu, Hao Wu, Wen-Bin Zou, Wen-Bin Zou, Emmanuelle Masson, Emmanuelle Masson, Yann Fichou, Yann Fichou, Gerald Le Gac, Gerald Le Gac, Gerald Le Gac, David N. Cooper, Claude Férec, Claude Férec, Zhuan Liao, Zhuan Liao, Jian-Min Chen   +18 more
doaj   +1 more source