Effects of 14 <i>F9</i> synonymous codon variants on hemophilia B expression: Alteration of splicing along with protein expression-Reference-Cited by-同舟云学术

Effects of 14 F9 synonymous codon variants on hemophilia B expression: Alteration of splicing along with protein expression

Published:2022-04-19 Issue:7 Volume:43 Page:928-939
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Zhang Huayang¹²^ORCID,Chen Changming¹,Wu Xi¹,Lou Can¹²,Liang Qian¹²,Wu Wenman¹³,Wang Xuefeng¹³,Ding Qiulan¹³

Affiliation:

1. Department of Laboratory Medicine, Ruijin Hospital Shanghai Jiaotong University School of Medicine Shanghai China

2. State Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Ruijin Hospital Shanghai Jiaotong University School of Medicine Shanghai China

3. Collaborative Innovation Center of Hematology Shanghai Jiaotong University School of Medicine Shanghai China

Funder

National Natural Science Foundation of China

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24377

Reference41 articles.

1. Functional Classification of BRCA2 DNA Variants by Splicing Assays in a Large Minigene with 9 Exons

2. Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes

3. Combined Computational-Experimental Analyses ofCFTRExon Strength Uncover Predictability of Exon-Skipping Level

4. Regulation of a strongF9cryptic 5′ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides

5. An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A

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2. Pleiotropic effects of different exonic nucleotide changes at the same position contribute to hemophilia B phenotypic variation;Journal of Thrombosis and Haemostasis;2024-04

3. In silico methods for predicting functional synonymous variants;Genome Biology;2023-05-22

4. Molecular pathogenesis of a novel Met394Thr variant causing hemophilia B;Molecular Genetics & Genomic Medicine;2023-02-16

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