Results 81 to 90 of about 4,405 (166)

Pathogenic relationship between phenotypes of ARPKD and novel compound heterozygous mutations of PKHD1

Frontiers in Genetics
BackgroundTo investigate whether the novel mutation of PKHD1 could cause polycystic kidney disease by affecting splicing with a recessive inheritance pattern.MethodsA nonconsanguineous Chinese couple with two recurrent pregnancies showed fetal enlarged ...
Xinrong Zhang, Xinrong Zhang, Xinrong Zhang, Jiebin Wu, Jiebin Wu, Jianteng Zhou, Jie Liang, Jie Liang, Jie Liang, Yu Han, Yu Han, Yu Han, Yunmeng Qi, Yunmeng Qi, Yunmeng Qi, Tao Zhu, Dejian Yuan, Zuobin Zhu, Zuobin Zhu, Jingfang Zhai, Jingfang Zhai, Jingfang Zhai, Jingfang Zhai   +22 more
doaj   +1 more source

Case report: Successful PGT-M based on the identification of a spliceogenic variant in the RPGRIP1L gene through Minigene assay

Frontiers in Genetics
With the development of high-throughput sequencing, the genetic etiology of many diseases has been revealed. However, this has also led to the categorization of many variants as variants of uncertain significance (VUSs), presenting a major challenge in ...
Huiling Xu, Jiajie Pu, Zhengzhong Wu, Shuhan Guo, Xuemei Li   +4 more
doaj   +1 more source

A novel heterozygous splice-altering mutation in HFM1 may be a cause of premature ovarian insufficiency

Journal of Ovarian Research, 2019
Background Premature ovarian insufficiency (POI) leads to early loss of ovarian function in women aged  A) associated with POI was identified by whole-exome sequencing.
Jing Zhe, Shiling Chen, Xin Chen, Yudong Liu, Ying Li, Xingyu Zhou, Jun Zhang   +6 more
doaj   +1 more source

Case Report: Evaluation of COL4A5 non-canonical splicing variants in two families

Frontiers in Medicine
IntroductionAlport syndrome is one of the most prevalent monogenic kidney diseases, resulting from the defects in COL4A3, COL4A4, and/or COL4A5 genes. Interpretation of non-canonical splicing variants can be challenging.
Chee Teck Koh, Chee Teck Koh, Tina Si Ting Lim, Tina Si Ting Lim, Alwin Hwai Liang Loh, Yan Fei Ng, Jia Liang Kwek, Perry Yew Weng Lau, Perry Yew Weng Lau, Hui-lin Chin, Hui-lin Chin, Jun Li Ng, Jun Li Ng, Mya Than, Mya Than, Irene Yanjia Mok, Cynthia Ciwei Lim, Kay Yuan Chong, Jason Chon Jun Choo, Hui Kim Yap, Hui Kim Yap, Kar Hui Ng, Kar Hui Ng, Yaochun Zhang, Yaochun Zhang   +24 more
doaj   +1 more source

Three intronic variants altering RNA splicing were identified in the CLCN5 gene by minigene assay

BMC Medical Genomics
Background: The Dent disease 1 is a rarely inherited renal tubular disease caused by variants in the CLCN5 gene. Increasing evidence suggests that many intronic variants can affect the normal splicing of pre-mRNA by altering various splicing regulatory signals. Therefore, this study aims to provide novel insights into the impact of intronic variants of
Qiao, Dan, Liu, Xuyan, Bottillo, Irene, Zhang, Ran, Shao, Leping   +4 more
openaire   +3 more sources

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

Case Report: a novel non-canonical splice site variant in COL4A5 in a patient with Alport syndrome

Frontiers in Medicine
Alport syndrome (AS) is a genetically heterogeneous disorder caused by mutations in type IV collagen genes, clinically characterized by progressive renal function deterioration. Despite advances in genetic screening technologies, cases resulting from non-
Xue Wang, Xue Wang, Linlin Dong, Linlin Dong, Hui Qiu, Hui Qiu, Beibei Wang, Beibei Wang, Sanfeng Wang, Sanfeng Wang, Weiran Zhou, Weiran Zhou   +11 more
doaj   +1 more source

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Functional analysis of a novel splice site variant of RAB3GAP2 in a fetus with congenital cataracts

BMC Medical Genomics
Background Mutations in RAB3GAP2 are associated with Martsolf syndrome 1, characterized by postnatal microcephaly, congenital cataracts, and developmental delay.
Xuemei Tan, Yuanyuan Huang, Xiaobao Wei, Qiurong Lai, Lang Pang, Jiquan Lan, Qingnan Liu, Jiangfeng Qin, Fangfang Zeng, Lizhu Chen, Dejian Yuan   +10 more
doaj   +1 more source