| P50 | author | James F. Gusella | Q1602688 |
| | Sandra L. Kane-Gill | Q43101206 |
| | Maire Leyne | Q125305884 |
| | Ranjit S Shetty | Q125306187 |
| P2093 | author name string | Robin Reed | |
| | Lijuan Liu | |
| | Conxi Lazaro | |
| | Susan A Slaugenhaupt | |
| | El Chérif Ibrahim | |
| | James Mull | |
| | Matthew M Hims | |
| P2860 | cites work | Purification and characterization of the human elongator complex | Q24291914 |
| | IKAP is a scaffold protein of the IkappaB kinase complex | Q24316436 |
| | Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia. | Q24531976 |
| | Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia | Q24533436 |
| | Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia | Q24536194 |
| | Familial dysautonomia is caused by mutations of the IKAP gene | Q24536229 |
| | HOLLYWOOD: a comparative relational database of alternative splicing | Q24538469 |
| | Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome | Q24539128 |
| | Human myosin V gene produces different transcripts in a cell type-specific manner | Q28117452 |
| | Identification of the first non-Jewish mutation in familial Dysautonomia | Q28190185 |
| | Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays | Q28235146 |
| | Pre-mRNA splicing and human disease | Q29617335 |
| | Listening to silence and understanding nonsense: exonic mutations that affect splicing | Q29618493 |
| | Genome-wide detection of alternative splicing in expressed sequences of human genes | Q29618541 |
| | Predictive identification of exonic splicing enhancers in human genes | Q29618621 |
| | tRNAGlu wobble uridine methylation by Trm9 identifies Elongator's key role for zymocin-induced cell death in yeast | Q30320103 |
| | Selective modification of alternative splicing by indole derivatives that target serine-arginine-rich protein splicing factors | Q33853846 |
| | Kinetin delays the onset of ageing characteristics in human fibroblasts | Q34328402 |
| | Killing the messenger: new insights into nonsense-mediated mRNA decay | Q34487265 |
| | How prevalent is functional alternative splicing in the human genome? | Q35640491 |
| | The splicing machinery is a genetic modifier of disease severity | Q36204731 |
| | Building specificity with nonspecific RNA-binding proteins | Q36217485 |
| | Splicing regulators: targets and drugs | Q36342775 |
| | Identification of a new class of exonic splicing enhancers by in vivo selection | Q36567695 |
| | The cardiac troponin T alternative exon contains a novel purine-rich positive splicing element | Q36686833 |
| | Selection of splice sites in pre-mRNAs with short internal exons | Q36743676 |
| | A non-EST-based method for exon-skipping prediction | Q39817214 |
| | Transcription impairment and cell migration defects in elongator-depleted cells: implication for familial dysautonomia | Q40277489 |
| | Familial dysautonomia (a brief review) | Q41203398 |
| | Comparative analysis detects dependencies among the 5' splice-site positions | Q41807332 |
| | Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients | Q43074091 |
| | Rescue of a human mRNA splicing defect by the plant cytokinin kinetin | Q44717225 |
| | Alternative splicing in disease and therapy | Q44879918 |
| | Elp1p, the yeast homolog of the FD disease syndrome protein, negatively regulates exocytosis independently of transcriptional elongation | Q46394628 |
| | Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects | Q49075460 |
| | Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis. | Q52224929 |
| | The I kappa B kinase (IKK) complex is tripartite and contains IKK gamma but not IKAP as a regular component. | Q52970987 |
| | Cystic fibrosis patients with the 3272-26A-->G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane. | Q54158519 |
| | A novel specific role for I kappa B kinase complex-associated protein in cytosolic stress signaling. | Q55035903 |
| | Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. | Q55476319 |
| | The alternative splicing of tau exon 10 and its regulatory proteins CLK2 and TRA2-BETA1 changes in sporadic Alzheimer's disease | Q57988179 |
| | Incidence of familial dysautonomia in Israel 1977-1981 | Q69395900 |
| | Kinetin inhibits protein oxidation and glycoxidation in vitro | Q73067344 |
| | N(6)-Furfuryladenine, kinetin, protects against Fenton reaction-mediated oxidative damage to DNA | Q73175425 |
| | Screening for familial dysautonomia in Israel: evidence for higher carrier rate among Polish Ashkenazi Jews | Q73717898 |
| | Teaching old drugs new tricks. Meeting of the Neurodegeneration Drug Screening Consortium, 7-8 April 2002, Washington, DC, USA | Q74763481 |
| | Mending the message | Q79333360 |
| | Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia | Q80238946 |
| P433 | issue | 2 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 149-161 | |
| P577 | publication date | 2007-01-06 | |
| P1433 | published in | Journal of Molecular Medicine | Q6295593 |
| P1476 | title | Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia | |
| P478 | volume | 85 | |