Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function
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Both Maintenance and Avoidance of RNA-Binding Protein Interactions Constrain Coding Sequence Evolution.Transposon-mediated Generation of Cellular and Mouse Models of Splicing Mutations to Assess the Efficacy of snRNA-based TherapeuticsEstimating the prevalence of functional exonic splice regulatory information.An Exon-Specific U1snRNA Induces a Robust Factor IX Activity in Mice Expressing Multiple Human FIX Splicing Mutants.Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis/activity.Hemophilia A: different phenotypes may be explained by multiple and variable effects of the causative mutation in the F8 gene.Exon Specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a Familial Dysautonomia mouse model.The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction.Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site.
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P2860
Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Molecular Basis and Therapeuti ...... Splicing and Protein Function
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Molecular Basis and Therapeuti ...... Splicing and Protein Function
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type
label
Molecular Basis and Therapeuti ...... Splicing and Protein Function
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Molecular Basis and Therapeuti ...... Splicing and Protein Function
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prefLabel
Molecular Basis and Therapeuti ...... Splicing and Protein Function
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Molecular Basis and Therapeuti ...... Splicing and Protein Function
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P2093
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Molecular Basis and Therapeuti ...... Splicing and Protein Function
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Erica Bussani
Mirko Pinotti
Mojca Tajnik
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P304
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10.1371/JOURNAL.PGEN.1006082
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2016-05-26T00:00:00Z