| scholarly article | Q13442814 |
| P50 | author | Malka Nissim-Rafinia | Q114410816 |
| P2093 | author name string | Batsheva Kerem | |
| Efrat Ozeri | |||
| Scott H Randell | |||
| James R Yankaskas | |||
| Harvey B Pollard | |||
| Ornit Chiba-Falek | |||
| Ofer Eidelman | |||
| Micha Aviram | |||
| Liat Shushi | |||
| P2860 | cites work | A Novel Mutation in the Cystic Fibrosis Gene in Patients with Pulmonary Disease but Normal Sweat Chloride Concentrations | Q71646276 |
| A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations | Q73442972 | ||
| Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene | Q73796994 | ||
| Differential SMN2 expression associated with SMA severity | Q77525869 | ||
| Five Percent of Normal Cystic Fibrosis Transmembrane Conductance Regulator mRNA Ameliorates the Severity of Pulmonary Disease in Cystic Fibrosis | Q22306303 | ||
| Mechanisms of alternative pre-messenger RNA splicing | Q28131822 | ||
| Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy | Q28201294 | ||
| An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA | Q28204816 | ||
| Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients | Q28209134 | ||
| SCNM1, a putative RNA splicing factor that modifies disease severity in mice | Q28509818 | ||
| Identification of the cystic fibrosis gene: genetic analysis | Q29614402 | ||
| Listening to silence and understanding nonsense: exonic mutations that affect splicing | Q29618493 | ||
| Fluorescent chloride indicators to assess the efficacy of CFTR cDNA delivery | Q33605574 | ||
| Treatment of spinal muscular atrophy by sodium butyrate | Q33933841 | ||
| Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C-->T mutation | Q34060327 | ||
| Splicing regulation as a potential genetic modifier | Q34540777 | ||
| Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts | Q34921907 | ||
| Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2) | Q35210565 | ||
| The molecular basis of partial penetrance of splicing mutations in cystic fibrosis. | Q35239086 | ||
| Transcript analysis of the cystic fibrosis splicing mutation 1525-1G>A shows use of multiple alternative splicing sites and suggests a putative role of exonic splicing enhancers. | Q35442973 | ||
| EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia | Q40629721 | ||
| The dopamine transporter gene (SLC6A3) variable number of tandem repeats domain enhances transcription in dopamine neurons | Q40764395 | ||
| Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 +1G→T and 711 +1G→T mutations | Q41551975 | ||
| Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations | Q42799155 | ||
| Correction of aberrant splicing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by antisense oligonucleotides | Q42807733 | ||
| Correction of disease-associated exon skipping by synthetic exon-specific activators | Q44276105 | ||
| Rescue of a human mRNA splicing defect by the plant cytokinin kinetin | Q44717225 | ||
| New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12. | Q47947444 | ||
| Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element | Q58454220 | ||
| Analysis of alternative splicing patterns in the cystic fibrosis transmembrane conductance regulator gene using mRNA derived from lymphoblastoid cells of cystic fibrosis patients | Q71612284 | ||
| P433 | issue | 11 | |
| P921 | main subject | cystic fibrosis | Q178194 |
| transmembrane protein | Q424204 | ||
| P304 | page(s) | 1071-1077 | |
| P577 | publication date | 2004-11-01 | |
| P1433 | published in | EMBO Reports | Q5323356 |
| P1476 | title | Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation | |
| P478 | volume | 5 |
| Q36969590 | A targeted deleterious allele of the splicing factor SCNM1 in the mouse |
| Q34312260 | Alternative splicing regulated by butyrate in bovine epithelial cells |
| Q38895546 | Anti-fibrotic effects of valproic acid: role of HDAC inhibition and associated mechanisms |
| Q33620824 | Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis. |
| Q39730550 | Butyrate increases the formation of anti-angiogenic vascular endothelial growth factor variants in human lung microvascular endothelial cells |
| Q41593485 | Cas9/gRNA targeted excision of cystic fibrosis-causing deep-intronic splicing mutations restores normal splicing of CFTR mRNA. |
| Q40339014 | Correction of a Cystic Fibrosis Splicing Mutation by Antisense Oligonucleotides. |
| Q36732484 | Cystic fibrosis transmembrane regulator protein mutations: 'class' opportunity for novel drug innovation |
| Q38346151 | Deficiency of the splicing factor Sfrs10 results in early embryonic lethality in mice and has no impact on full-length SMN/Smn splicing |
| Q43232408 | Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X. |
| Q42611228 | Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I. |
| Q42612955 | Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia. |
| Q24813869 | Functional studies on the ATM intronic splicing processing element |
| Q34792390 | High throughput screening in duchenne muscular dystrophy: from drug discovery to functional genomics |
| Q28472268 | Identification of small molecule and genetic modulators of AON-induced dystrophin exon skipping by high-throughput screening |
| Q24647477 | Influence of Friedreich ataxia GAA noncoding repeat expansions on pre-mRNA processing |
| Q89685622 | Integrated assessment of viral transcription, antigen presentation, and CD8+ T cell function reveal multiple limitations of class I selective HDACi during HIV-1 latency reversal |
| Q39771109 | Modulation of aberrant NF1 pre-mRNA splicing by kinetin treatment |
| Q37086280 | Novel human bronchial epithelial cell lines for cystic fibrosis research. |
| Q38160844 | Role of pseudoexons and pseudointrons in human cancer. |
| Q51961448 | Schimke immuno-osseous dysplasia: expression of SMARCAL1 in blood and kidney provides novel insight into disease phenotype. |
| Q41674208 | Sodium Butyrate and Valproic Acid as Splicing Restoring Agents in Erythroid Cells of β-Thalassemic Patients |
| Q88431812 | Splicing mutations in human genetic disorders: examples, detection, and confirmation |
| Q33237932 | Spontaneous rescue from cystic fibrosis in a mouse model |
| Q36780738 | Targeting RNA splicing for disease therapy |
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