Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function-Reference-Cited by-同舟云学术

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Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function

Published:2021-08 Issue:8 Volume:108 Page:1512-1525
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Lombardi Silvia,Leo Gabriele,Merlin Simone,Follenzi Antonia,McVey John H.,Maestri Iva,Bernardi Francesco,Pinotti Mirko,Balestra Dario

Funder

Bayer

Bayer Healthcare

International Center for Genetic Engineering and Biotechnology

Università degli Studi di Ferrara

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference46 articles.

1. The past and future of haemophilia: diagnosis, treatments, and its complications;Peyvandi;Lancet,2016

2. The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important resources for haemostasis clinicians and researchers;McVey;Haemophilia,2020

3. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A;Lakich;Nat. Genet.,1993

4. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A;Bagnall;Blood,2002

5. Characterization of five associations of F8 missense mutations containing FVIII B domain mutations;Jourdy;Haemophilia,2016

Cited by 13 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

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

2. An intronic RNA element modulates Factor VIII exon-16 splicing;Nucleic Acids Research;2023-11-14

3. Development of Engineered-U1 snRNA Therapies: Current Status;International Journal of Molecular Sciences;2023-09-27

4. Rescue of blood coagulation Factor VIII exon-16 mis-splicing by antisense oligonucleotides;2023-04-01

5. Counteracting the Common Shwachman–Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing;International Journal of Molecular Sciences;2023-02-16

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