Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy.
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LINE-1 hypomethylation in spermatozoa is associated with Bisphenol A exposureAll APOBEC3 family proteins differentially inhibit LINE-1 retrotranspositionMolecular archeology of L1 insertions in the human genome.Retrotransposition-Competent Human LINE-1 Induces Apoptosis in Cancer Cells With Intactp53Guardian of the Human Genome: Host Defense Mechanisms against LINE-1 RetrotranspositionRoles for retrotransposon insertions in human diseaseThe impact of transposable elements in genome evolution and genetic instability and their implications in various diseasesLINE-1 elements in structural variation and diseasedbRIP: a highly integrated database of retrotransposon insertion polymorphisms in humansMus spretus LINE-1s in the Mus musculus domesticus inbred strain C57BL/6J are from two different Mus spretus LINE-1 subfamilies.Genomic characterization of recent human LINE-1 insertions: evidence supporting random insertionReading between the LINEs: human genomic variation induced by LINE-1 retrotranspositionAn intronic LINE-1 element insertion in the dystrophin gene aborts dystrophin expression and results in Duchenne-like muscular dystrophy in the corgi breedAn element in the 3' untranslated region of human LINE-1 retrotransposon mRNA binds NXF1(TAP) and can function as a nuclear export element.Exonization of active mouse L1s: a driver of transcriptome evolution?Nucleoside analogue reverse transcriptase inhibitors differentially inhibit human LINE-1 retrotranspositionA birth of bipartite exon by intragenic deletionMobilizing diversity: transposable element insertions in genetic variation and disease.De novo LINE-1 retrotransposition in HepG2 cells preferentially targets gene poor regions of chromosome 13Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter.Modulation of in vitro splicing of the upstream intron by modifying an intra-exon sequence which is deleted from the dystrophin gene in dystrophin Kobe.A novel mobile element inserted in the alpha spectrin gene: spectrin dayton. A truncated alpha spectrin associated with hereditary elliptocytosis.A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy.Natural genetic variation caused by transposable elements in humansRecent evolutionary acquisition of alternative pre-mRNA splicing and 3' processing regulations induced by intronic B2 SINE insertion.L1 retrotransposition in nondividing and primary human somatic cells.Aberrant pre-mRNA maturation is caused by LINE insertions into introns of the white gene of Drosophila melanogaster.LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease: mutation detection bias and multiple mechanisms of target gene disruptionThe genomic distribution of L1 elements: the role of insertion bias and natural selection.Genome-wide analysis of mobile genetic element insertion sitesOn the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.Deep sequencing reveals low incidence of endogenous LINE-1 retrotransposition in human induced pluripotent stem cells.Pathogenic orphan transduction created by a nonreference LINE-1 retrotransposon.A novel point mutation (G-1 to T) in a 5' splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophyL1 hybridization enrichment: a method for directly accessing de novo L1 insertions in the human germline.Retroelements versus APOBEC3 family members: No great escape from the magnificent sevenThe genomic sequences bound to special AT-rich sequence-binding protein 1 (SATB1) in vivo in Jurkat T cells are tightly associated with the nuclear matrix at the bases of the chromatin loops.Two additional potential retrotransposons isolated from a human L1 subfamily that contains an active retrotransposable element.Long interspersed nuclear elements (LINEs) show tissue-specific, mosaic genome and methylation-unrestricted, widespread expression of noncoding RNAs in somatic tissues of the rat.Chimeric retrogenes suggest a role for the nucleolus in LINE amplification.
P2860
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P2860
Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy.
description
1993 nî lūn-bûn
@nan
1993 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Insertion of a 5' truncated L1 ...... f Duchenne muscular dystrophy.
@ast
Insertion of a 5' truncated L1 ...... f Duchenne muscular dystrophy.
@en
type
label
Insertion of a 5' truncated L1 ...... f Duchenne muscular dystrophy.
@ast
Insertion of a 5' truncated L1 ...... f Duchenne muscular dystrophy.
@en
prefLabel
Insertion of a 5' truncated L1 ...... f Duchenne muscular dystrophy.
@ast
Insertion of a 5' truncated L1 ...... f Duchenne muscular dystrophy.
@en
P2093
P2860
P356
P1476
Insertion of a 5' truncated L1 ...... f Duchenne muscular dystrophy.
@en
P2093
Ishikawa Y
Nakamura H
P2860
P304
P356
10.1172/JCI116402
P407
P577
1993-05-01T00:00:00Z