Keywords: پرش اگزون; U12-type introns; Minor spliceosome; Human diseases; Pre-mRNA splicing; Cryptic splice sites; Exon skipping; Intron retention;
مقالات ISI پرش اگزون (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: پرش اگزون; Duchenne muscular dystrophy; Duplication; Mouse model; Exon skipping
Keywords: پرش اگزون; Duchenne muscular dystrophy; dystrophin; exon skipping; clinical evaluation
Keywords: پرش اگزون; Duchenne; Becker; Muscular dystrophy; DMD gene; Dystrophin; Gene therapy; Exon skipping; Nonsense suppression;
Keywords: پرش اگزون; Duchenne muscular dystrophy; Biomarker; Dystrophin; Exon skipping;
Keywords: پرش اگزون; Rare disease; Exon skipping; Splicing; Antisense oligonucleotides;
Keywords: پرش اگزون; gene therapy; muscular dystrophy; exon skipping
Keywords: پرش اگزون; Duchenne muscular dystrophy; Becker muscular dystrophy; Dystrophin; Exon skipping;
Keywords: پرش اگزون; Exon skipping; Chemical; Staurosporine; Nonsense mutation; Dystrophin
Generation of splice switching oligonucleotides targeting the Cockayne syndrome group B gene product in order to change the diseased cell state
Keywords: پرش اگزون; DNA repair; Cockayne syndrome; UV sensitive syndrome; Antisense oligonucleotides; Exon skipping;
Use of modified U1 small nuclear RNA for rescue from exon 7 skipping caused by 5â²-splice site mutation of human cathepsin A gene
Keywords: پرش اگزون; bp; base pair(s); cDNA; complementary DNA; CTSA; cathepsin A; EGFP; enhanced green fluorescent protein; kbp; kilobase pairs; kDa; kilodaltons; PAGE; polyacrylamide gel electrophoresis; PCR; polymerase chain reaction; pre-mRNA; mRNA precursor; rAAV; recomb
A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy
Keywords: پرش اگزون; Duchenne muscular dystrophy; Drisapersen; Dystrophin; Antisense oligonucleotide; Exon skipping; six-minute walking distance;
CRISPR/Cas9-mediated editing of GABRR2 gene in RGC-5 cells induces random exon deletion, exon splicing and new exon recruitment
Keywords: پرش اگزون; CRISPR-Cas9; GABRR2; RGC-5; Exon skipping; Exon recruitment;
The splicing of tiny introns of Paramecium is controlled by MAGO
Keywords: پرش اگزون; EJC; exon junction complex; PTC; premature termination codon; NMD; nonsense-mediated decay; IR; intron retention; BLAST; basic local alignment search tool; dNTPs; deoxynucleotide triphosphates; EDTA; ethylenediaminetetraacetic acid; EEO; electroendosmosis
Identification of two isoforms of Pop in the domestic silkworm, Bombyx mori: Cloning, characterization and expression analysis
Keywords: پرش اگزون; Aph; acylpeptide hydrolase; AA; alternative acceptor site; AD; alternative donor site; AS; alternative splicing; ANCE; angiotensin-converting enzyme; Ang I; angiotensin I; B. mori; Bombyx mori; BSA; bovin serum albumin; DTT; dithiothreitol; E. coli; Esche
Characterization and functional analysis of four HYH splicing variants in Arabidopsis hypocotyl elongation
Keywords: پرش اگزون; HY5; LONG HYPOCOTYL5; HYH; HY5 homolog; COP1; CONSTITUTIVE PHOTOMORPHOGENIC1; wt; wild type; AS; alternative splicing; bZIP; basic domain/leucine zipper; IR; intron retention; ES; exon skipping; AltD; alternative 5â² splice sites, or alternative donor si
Identification and characterization of two novel PTCH1 splice variants
Keywords: پرش اگزون; Patched-1; Splice variants; Exon skipping; SHH; Sterol-sensing domain; GLI1;
Contributions of Japanese patients to development of antisense therapy for DMD
Keywords: پرش اگزون; Duchenne muscular dystrophy; Becker muscular dystrophy; Exon skipping; Antisense oligonucleotide; Reading frame; Treatment
Exon skipping creates novel splice variants of DMC1 gene in ruminants
Keywords: پرش اگزون; DMC1; Splice variants; Exon skipping; Ruminants; Meiosis; Recombination
Skipping of exon 27 in C3 gene compromises TED domain and results in complete human C3 deficiency
Keywords: پرش اگزون; Complement system; C3 deficiency; Exon skipping
De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion
Keywords: پرش اگزون; MYH7 gene; Fiber-type disproportion; Myopathy; Dropped head sign; Whole exome sequencing; Exon skipping;
Exon skipping therapy for Duchenne muscular dystrophy
Keywords: پرش اگزون; RNA therapeutics; RNA splicing; Exon skipping; Clinical trials; Eteplirsen; Drisapersen;
Evaluation of the effect of c.2946 + 1G > T mutation on splicing in the SCN1A gene
Keywords: پرش اگزون; Cryptogenic generalized epilepsy; Directed mutagenesis; Functional analysis; Exon skipping; SCN1A gene
Splicing defects in ABCD1 gene leading to both exon skipping and partial intron retention in X-linked adrenoleukodystrophy Tunisian patient
Keywords: پرش اگزون; ABCD1 gene; Adrenal insufficiency; X-ALD; mRNA splicing; Exon skipping; Intron retention;
The effect of the common c.2299delG mutation in USH2A on RNA splicing
Keywords: پرش اگزون; USH2A; Usher syndrome; retinitis pigmentosa; RNA; RT-PCR; splicing; exon skipping;
Anoctamin 5 muscular dystrophy associated with a silent p.Leu115Leu mutation resulting in exon skipping
Keywords: پرش اگزون; Anoctamin 5; Dysferlin; Mutation; Silent mutation; Exon skipping;
Identification and Characterization of ALK Kinase Splicing Isoforms in Non-Small-Cell Lung Cancer
Keywords: پرش اگزون; Lung cancer; Non-small-cell lung cancer; Tyrosine kinase; Kinase inhibitor; Anaplastic lymphoma kinase; Crizotinib; Alternative splicing; Exon skipping; Exon 27; Exon 23;
A novel synonymous mutation causing complete skipping of exon 16 in the SLC26A4 gene in a Korean family with hearing loss
Keywords: پرش اگزون; Synonymous mutations; Exon skipping; SLC26A4 gene; Vestibulocochlear organs;
First functional analysis of a novel splicing mutation in the B3GALTL gene by an ex vivo approach in Tunisian patients with typical Peters plus syndrome
Keywords: پرش اگزون; B3GALTL; beta-1,3-glucosyltransferase; cDNA; DNA complementary to RNA; PTC; premature translation stop codon; mRNA; messenger ribonucleic acid; NMD; nonsense-mediated mRNA decay; PPS; Peters plus syndrome; DNA; deoxyribonucleic acid; B3GTL; beta3-glycosyl
Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: Removal of the CAG containing exon
Keywords: پرش اگزون; SCA3; spinocerebellar ataxia type 3; MJD; Machado-Joseph disease; PolyQ; polyglutamine; ATXN3; ataxin-3; UIMs; ubiquitin interacting motifs; RNAi; RNA interference; AON; antisense oligonucleotide; SNP; single nucleotide polymorphism; DMD; Duchenne muscu
A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly
Keywords: پرش اگزون; Intellectual disability; Mental retardation; Microcephaly; TRAPPC9; Homozygosity mapping; Splice site mutation; Exon skipping
Identification of a novel cis-element that regulates alternative splicing of Bcl-x pre-mRNA
Keywords: پرش اگزون; Pre-mRNA splicing; Bcl-x; Alternative splicing; Apoptosis; Exon inclusion; Exon skipping;
Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene
Keywords: پرش اگزون; Synonymous substitution; Exon skipping; Minigene assay; SplicePort predictions; Ectopic splice sites
Multiple exon skipping strategies to by-pass dystrophin mutations
Keywords: پرش اگزون; Dystrophin; Duchenne muscular dystrophy; Exon skipping; Antisense oligomers; Splice-switching; Personalised genetic therapy;
Gene therapy for muscular dystrophy: Lessons learned and path forward
Keywords: پرش اگزون; Exon skipping; Mutation suppression; Dystrophin; Alpha-sarcoglycan; Follistatin; Adeno-associated virus;
A global view of gene activity at the flowering transition phase in precocious trifoliate orange and its wild-type [Poncirus trifoliata (L.) Raf.] by transcriptome and proteome analysis
Keywords: پرش اگزون; A3SS; alternative 3â² splice site; A5SS; alternative 5â² splice site; ES; exon skipping; RI; retention intron; AFE; alternative first exon; ALE; alternative last exon; MXE; mutually exclusive exon; iTRAQ; isobaric tag for relative and absolute quantific
POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome
Keywords: پرش اگزون; POLG variation; Alpers syndrome; RNA splicing; Exon skipping; DNA polymerase γ
Rescue of a dystrophin-like protein by exon skipping normalizes synaptic plasticity in the hippocampus of the mdx mouse
Keywords: پرش اگزون; Dystrophin; Exon skipping; Gene therapy; Mdx mouse; Synaptic plasticity; Hippocampus; Inhibition; GABA receptor; AAV vector; Adult brain;
Short communication: Molecular genetic characterization of ovine αS1-casein allele H caused by alternative splicing
Keywords: پرش اگزون; ovine; CSN1S1; messenger ribonucleic acid; exon skipping;
A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping
Keywords: پرش اگزون; Mitochondrial DNA depletion; DGUOK mutation; Splicing site mutation; Hepatocerebral mtDNA depletion; Exon skipping
The c.1275A>G putative chronic pancreatitis-associated synonymous polymorphism in the glycoprotein 2 (GP2) gene decreases exon 9 inclusion
Keywords: پرش اگزون; Chronic pancreatitis; Exon skipping; Exonic splicing enhancer; Glycoprotein 2; GP2; Synonymous polymorphism;
Gene therapy for muscle disease
Keywords: پرش اگزون; Dystrophin; Duchenne muscular dystrophy (DMD); Recombinant adenoassociated viral (AAV); Exon skipping; Antisense oligonucleotide; Gene therapy;
Personalized exon skipping strategies to address clustered non-deletion dystrophin mutations
Keywords: پرش اگزون; Duchenne muscular dystrophy; Exon skipping; Antisense oligomers; Non-deletion mutations; Personalized genetic therapy; Splice-switching;
Two novel exonic point mutations in HEXA identified in a juvenile Tay-Sachs patient: Role of alternative splicing and nonsense-mediated mRNA decay
Keywords: پرش اگزون; GM2 gangliosidosis; Tay-Sachs disease (TSD); β-hexosaminidase (Hex A); HEXA gene; Exonic mutation; Exon skipping; Premature termination codons (PTCs); Nonsense-mediated mRNA decay (NMD)
Comparative analysis of antisense oligonucleotide sequences targeting exon 53 of the human DMD gene: Implications for future clinical trials
Keywords: پرش اگزون; Exon skipping; Duchenne muscular dystrophy; Antisense oligonucleotides; Phosphorodiamidate morpholino oligomer
Polymersome delivery of siRNA and antisense oligonucleotides
Keywords: پرش اگزون; Polymersome; siRNA; AON; Antisense; Exon skipping; Muscular dystrophy
An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II
Keywords: پرش اگزون; Mucolipidosis type II; I-cell disease; GlcNAc-1-phosphotransferase; GNPTAB; Exon skipping; Exonic Alu insertion; Microduplication; Exon enhancers;
Danon disease: A novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression
Keywords: پرش اگزون; Danon disease; LAMP2; Lysosomal membrane proteins; Lysosomal storage disease; Exon skipping
149th ENMC International Workshop and 1st TREAT-NMD Workshop on: “Planning Phase I/II Clinical trials using Systemically Delivered Antisense Oligonucleotides in Duchenne Muscular Dystrophy”
Keywords: پرش اگزون; Antisense oligonucleotides; Duchenne muscular dystrophy; Therapeutic trials; Exon skipping;
In vivo delivery of naked antisense oligos in aged mdx mice: Analysis of dystrophin restoration in skeletal and cardiac muscle
Keywords: پرش اگزون; Exon skipping; Antisense oligonucleotides; mdx mouse; Force measurement; Cardiac muscle