Add to ORKGIn several forms of beta-thalassemia, mutations in the second intron of the beta-globin gene create aberrant 5' splice sites and activate a common cryptic 3' splice site upstream. As a result, the thalassemic beta-globin pre-mRNAs are spliced almost exclusively via the aberrant splice sites leading to a deficiency of correctly spliced beta-globin mRNA and, consequently, beta-globin. We have designed a series of vectors that express modified U7 snRNAs containing sequences antisense to either the aberrant 5' or 3' splice sites in the IVS2-705 thalassemic pre-mRNA. Transient expression of modified U7 snRNAs in a HeLa cell line stably expressing the IVS2-705 beta-globin gene restored up to 65% of correct splicing in a sequence-specific and dose...
Certain thalassemic human beta-globin pre-mRNAs carry mutations that generate aberrant splice sites ...
A series of HeLa cell lines which stably express beta-globin pre-mRNAs carrying point mutations at n...
Certain thalassemic human 0-globin pre-mRNAs carry mutations that generate aberrant splice sites and...
In several forms of β-thalassemia, mutations in the second intron of the β-globin gene create aberra...
The T-->G mutation at nucleotide 705 in the second intron of the beta-globin gene creates an aberran...
We have used three beta-thalassemic mutations, IVS2-654, -705 and -745, that create aberrant 5' spli...
Antisense 2'-O-methylribooligonucleotides were targeted against specific sequence elements in mutate...
Mutations at nucleotides 654, 705, or 745 in intron 2 of the human beta-globin gene activate aberran...
In one form of β-thalassemia, a genetic blood disorder, a mutation in intron 2 of the β-globin gene ...
Human beta-globin mRNA precursors (pre-mRNAs) synthesized in vitro from a bacteriophage SP6 promoter...
We have used three β-thalassemic mutations, IVS2-654, −705 and −745, that create aberrant 5′ splice ...
The importance of alternative splicing for the diversity of the proteome and the large number of gen...
We have studied the structure and transcription of a cloned human beta-globin gene from a fetus diag...
Repair of β-globin pre-mRNA rendered defective by a thalassemia-causing splicing mutation, IVS2–654,...
Splice-site mutations in the beta-globin gene can lead to aberrant transcripts and decreased functio...
Certain thalassemic human beta-globin pre-mRNAs carry mutations that generate aberrant splice sites ...
A series of HeLa cell lines which stably express beta-globin pre-mRNAs carrying point mutations at n...
Certain thalassemic human 0-globin pre-mRNAs carry mutations that generate aberrant splice sites and...
In several forms of β-thalassemia, mutations in the second intron of the β-globin gene create aberra...
The T-->G mutation at nucleotide 705 in the second intron of the beta-globin gene creates an aberran...
We have used three beta-thalassemic mutations, IVS2-654, -705 and -745, that create aberrant 5' spli...
Antisense 2'-O-methylribooligonucleotides were targeted against specific sequence elements in mutate...
Mutations at nucleotides 654, 705, or 745 in intron 2 of the human beta-globin gene activate aberran...
In one form of β-thalassemia, a genetic blood disorder, a mutation in intron 2 of the β-globin gene ...
Human beta-globin mRNA precursors (pre-mRNAs) synthesized in vitro from a bacteriophage SP6 promoter...
We have used three β-thalassemic mutations, IVS2-654, −705 and −745, that create aberrant 5′ splice ...
The importance of alternative splicing for the diversity of the proteome and the large number of gen...
We have studied the structure and transcription of a cloned human beta-globin gene from a fetus diag...
Repair of β-globin pre-mRNA rendered defective by a thalassemia-causing splicing mutation, IVS2–654,...
Splice-site mutations in the beta-globin gene can lead to aberrant transcripts and decreased functio...
Certain thalassemic human beta-globin pre-mRNAs carry mutations that generate aberrant splice sites ...
A series of HeLa cell lines which stably express beta-globin pre-mRNAs carrying point mutations at n...
Certain thalassemic human 0-globin pre-mRNAs carry mutations that generate aberrant splice sites and...