Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant

Published:2012-07 Issue:7 Volume:1822 Page:1109-1113
ISSN:0925-4439
Container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Author:

Cavallari Nicola,Balestra Dario,Branchini Alessio,Maestri Iva,Chuamsunrit Ampaiwan,Sasanakul Werasak,Mariani Guglielmo,Pagani Franco,Bernardi Francesco,Pinotti Mirko

Funder

Telethon-Italy

Ministero dell'Università e della Ricerca (MIUR)-Progetti di Ricerca di Interesse Nazionale (PRIN

AIFA

University of Ferrara

Fondazione CARIFE

Publisher

Elsevier BV

Subject

Molecular Biology,Molecular Medicine

Reference26 articles.

1. Polypeptide chain termination and stop codon readthrough on eukaryotic ribosomes;Rospert;Rev. Physiol. Biochem. Pharmacol.,2005

2. Intracellular readthrough of nonsense mutations by aminoglycosides in coagulation factor VII;Pinotti;J. Thromb. Haemost.,2006

3. Efficiency of translation termination in humans is highly dependent upon nucleotides in the neighbourhood of a (premature) termination codon;Pacho;J. Med. Genet.,2011

4. Single base-pair substitutions in exon–intron junctions of human genes: nature, distribution, and consequences for mRNA splicing;Krawczak;Hum. Mutat.,2007

5. 5′ cleavage site in eukaryotic pre-mRNA splicing is determined by the overall 5′ splice region, not by the conserved 5′ GU;Aebi;Cell,1987

Cited by 17 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. Synonymous variant at the terminal nucleotide in exon 3 of F7 causes abnormal splicing: A case report;Molecular Genetics & Genomic Medicine;2024-07

2. Translation termination codons in protein synthesis and disease;Disorders of Protein Synthesis;2022

3. Case Report: Factor VII Deficiency Presented With Cephalohematoma After Birth;Frontiers in Pediatrics;2021-10-15

4. Novel IVS7+1G>T mutation of life-threatening congenital factor VII deficiency in neonates;Medicine;2019-10

5. Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency;Haematologica;2019-07-04

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3