| P2093 | author name string | André Hanauer | |
| | Maria Zeniou | |
| | James Stévenin | |
| | Renata Gattoni | |
| P2860 | cites work | Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome | Q24336705 |
| | G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV | Q24337825 |
| | Sorting out the complexity of SR protein functions | Q24539813 |
| | Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing? | Q24540131 |
| | An upstream AG determines whether a downstream AG is selected during catalytic step II of splicing | Q24551016 |
| | Restoration of correct splicing in thalassemic pre-mRNA by antisense oligonucleotides | Q24561454 |
| | Mechanisms of alternative pre-messenger RNA splicing | Q28131822 |
| | Alternative splicing of intron 3 of the serine/arginine-rich protein 9G8 gene. Identification of flanking exonic splicing enhancers and involvement of 9G8 as a trans-acting factor | Q28138789 |
| | X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1) | Q28207505 |
| | Splicing regulation at the second catalytic step by Sex-lethal involves 3' splice site recognition by SPF45 | Q28217970 |
| | Cloning, expression, and transcriptional properties of the human enhancer factor TEF-1 | Q28282333 |
| | Pre-mRNA splicing and human disease | Q29617335 |
| | The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences | Q29619441 |
| | SR proteins and splicing control | Q29619936 |
| | The structure and function of proteins involved in mammalian pre-mRNA splicing | Q29620286 |
| | Mechanisms of mRNA surveillance in eukaryotes | Q33847689 |
| | The RNA splicing factor hSlu7 is required for correct 3' splice-site choice | Q33887645 |
| | Multiple distinct splicing enhancers in the protein-coding sequences of a constitutively spliced pre-mRNA. | Q33957090 |
| | Identification of a bidirectional splicing enhancer: differential involvement of SR proteins in 5' or 3' splice site activation | Q33959923 |
| | Switch in 3' splice site recognition between exon definition and splicing catalysis is important for sex-lethal autoregulation. | Q33967504 |
| | Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome | Q34141760 |
| | Quality control of mRNA function | Q34156109 |
| | A new dominant gene mental retardation syndrome. Association with small stature, tapering fingers, characteristic facies, and possible hydrocephalus. | Q34236247 |
| | SC35 autoregulates its expression by promoting splicing events that destabilize its mRNAs | Q34583829 |
| | Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2) | Q35210565 |
| | A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer | Q35779276 |
| | Repair of thalassemic human beta-globin mRNA in mammalian cells by antisense oligonucleotides | Q36684554 |
| | Scanning and competition between AGs are involved in 3' splice site selection in mammalian introns | Q36695561 |
| | The 216-nucleotide intron of the E1A pre-mRNA contains a hairpin structure that permits utilization of unusually distant branch acceptors | Q36795093 |
| | Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome | Q37217152 |
| | Substrate specificities of SR proteins in constitutive splicing are determined by their RNA recognition motifs and composite pre-mRNA exonic elements | Q39444777 |
| | Temperature-dependent splicing of beta-globin pre-mRNA. | Q39682226 |
| | Intrinsic differences between authentic and cryptic 5' splice sites | Q40240461 |
| | Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. | Q40741164 |
| | A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro | Q41267481 |
| | A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes | Q42640148 |
| | Natural base-pairing interactions between 5' splice site and branch site sequences affect mammalian 5' splice site selection | Q42833691 |
| | Correction of disease-associated exon skipping by synthetic exon-specific activators | Q44276105 |
| | Modulation of alternative splicing of adenoviral E1A transcripts: factors involved in the early-to-late transition | Q44431927 |
| | A frameshifting mutation in CHRNE unmasks skipping of the preceding exon | Q44610070 |
| | Coffin-Lowry syndrome: clinical aspects at different ages and symptoms in female carriers. | Q51038366 |
| | The Coffin-Lowry syndrome: an inherited faciodigital mental retardation syndrome | Q52114342 |
| | The conserved dinucleotide AG of the 3' splice site may be recognized twice during in vitro splicing of mammalian mRNA precursors | Q68921617 |
| | An RNA processing activity that debranches RNA lariats | Q70091253 |
| P433 | issue | 3 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 1214-1223 | |
| P577 | publication date | 2004-02-18 | |
| P1433 | published in | Nucleic Acids Research | Q135122 |
| P1476 | title | Delineation of the mechanisms of aberrant splicing caused by two unusual intronic mutations in the RSK2 gene involved in Coffin-Lowry syndrome | |
| P478 | volume | 32 | |