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    ELP1 elongator acetyltransferase complex subunit 1 [ Homo sapiens (human) ]

    Gene ID: 8518, updated on 5-May-2024

    GeneRIFs: Gene References Into Functions

    Submit: New GeneRIFCorrection

    GeneRIFPubMed TitleDate
    Evidence for the role of the cytosolic interactions of IKAP in cell adhesion and migration, and support the notion that cell-motility deficiencies could contribute to familial dysautonomia.

    IKAP localizes to membrane ruffles with filamin A and regulates actin cytoskeleton organization and cell migration.
    Johansen LD, Naumanen T, Knudsen A, Westerlund N, Gromova I, Junttila M, Nielsen C, Bøttzauw T, Tolkovsky A, Westermarck J, Coffey ET, Jäättelä M, Kallunki T.

    		01/21/2010
    IKBKAP may have a role in familial dysautonomia

    IKBKAP mRNA in peripheral blood leukocytes: a molecular marker of gene expression and splicing in familial dysautonomia.
    Gold-von Simson G, Leyne M, Mull J, Rolnitzky LM, Goldberg JD, Berlin D, Axelrod FB, Slaugenhaupt SA.

    		01/21/2010
    Observational study of genotype prevalence. (HuGE Navigator)

    Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?
    Fares F, Badarneh K, Abosaleh M, Harari-Shaham A, Diukman R, David M.

    		04/3/2008
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (9) articles

    Interleukin-9 polymorphism in infants with respiratory syncytial virus infection: an opposite effect in boys and girls.
    Schuurhof A, Bont L, Siezen CL, Hodemaekers H, van Houwelingen HC, Kimman TG, Hoebee B, Kimpen JL, Janssen R.

    Application of gene network analysis techniques identifies AXIN1/PDIA2 and endoglin haplotypes associated with bicuspid aortic valve.
    Wooten EC, Iyer LK, Montefusco MC, Hedgepeth AK, Payne DD, Kapur NK, Housman DE, Mendelsohn ME, Huggins GS.

    Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium.

    Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
    Rotthier A, Baets J, De Vriendt E, Jacobs A, Auer-Grumbach M, Lévy N, Bonello-Palot N, Kilic SS, Weis J, Nascimento A, Swinkels M, Kruyt MC, Jordanova A, De Jonghe P, Timmerman V.

    Analyses of associations with asthma in four asthma population samples from Canada and Australia.
    Daley D, Lemire M, Akhabir L, Chan-Yeung M, He JQ, McDonald T, Sandford A, Stefanowicz D, Tripp B, Zamar D, Bosse Y, Ferretti V, Montpetit A, Tessier MC, Becker A, Kozyrskyj AL, Beilby J, McCaskie PA, Musk B, Warrington N, James A, Laprise C, Palmer LJ, Paré PD, Hudson TJ.

    Genetic variation in the nuclear factor kappaB pathway in relation to susceptibility to rheumatoid arthritis.
    Dieguez-Gonzalez R, Akar S, Calaza M, Perez-Pampin E, Costas J, Torres M, Vicario JL, Velloso ML, Navarro F, Narvaez J, Joven B, Herrero-Beaumont G, Gonzalez-Alvaro I, Fernandez-Gutierrez B, de la Serna AR, Carreño L, Lopez-Longo J, Caliz R, Collado-Escobar MD, Blanco FJ, Fernandez-Lopez C, Balsa A, Pascual-Salcedo D, Gomez-Reino JJ, Gonzalez A.

    Genetic susceptibility to respiratory syncytial virus bronchiolitis is predominantly associated with innate immune genes.
    Janssen R, Bont L, Siezen CL, Hodemaekers HM, Ermers MJ, Doornbos G, van 't Slot R, Wijmenga C, Goeman JJ, Kimpen JL, van Houwelingen HC, Kimman TG, Hoebee B.

    Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension.
    Kokubo Y, Tomoike H, Tanaka C, Banno M, Okuda T, Inamoto N, Kamide K, Kawano Y, Miyata T.

    The role of the IKAP gene polymorphisms in atopic diseases in the middle European population.
    Schüller M, Izakovičová Hollá L, Bučková D, Znojil V, Štelcl M, Rybníček O, Vácha J, Schüller M, Izakovičová Hollá L, Bučková D, Znojil V, Štelcl M, Rybníček O, Vácha J.

    		03/13/2008
    Observational study of genotype prevalence and genetic testing. (HuGE Navigator)

    Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews.
    Dong J, Edelmann L, Bajwa AM, Kornreich R, Desnick RJ.

    		03/13/2008
    IKAP/hELP1 may play a role in oligodendrocyte differentiation and/or myelin formation.

    IKAP/hELP1 deficiency in the cerebrum of familial dysautonomia patients results in down regulation of genes involved in oligodendrocyte differentiation and in myelination.
    Cheishvili D, Maayan C, Smith Y, Ast G, Razin A.

    		01/21/2010
    description of a humanized IKBKAP transgenic mouse that models a tissue-specific human splicing defect

    A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect.
    Hims MM, Shetty RS, Pickel J, Mull J, Leyne M, Liu L, Gusella JF, Slaugenhaupt SA., Free PMC Article

    		01/21/2010
    investigated the nature of the FD splicing defect and the mechanism by which kinetin improves exon inclusion

    Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia.
    Hims MM, Ibrahim EC, Leyne M, Mull J, Liu L, Lazaro C, Shetty RS, Gill S, Gusella JF, Reed R, Slaugenhaupt SA.

    		01/21/2010
    Tissue-specific reduction in splicing efficiency of this protein is due to the major mutation associated with familial dysautonomia.

    Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.
    Cuajungco MP, Leyne M, Mull J, Gill SP, Lu W, Zagzag D, Axelrod FB, Maayan C, Gusella JF, Slaugenhaupt SA., Free PMC Article

    		01/21/2010
    novel role for the I kappa B kinase complex-associated protein (IKAP) in the regulation of activation of the mammalian stress response via the c-Jun N-terminal kinase (JNK)-signaling pathway

    A novel specific role for I kappa B kinase complex-associated protein in cytosolic stress signaling.
    Holmberg C, Katz S, Lerdrup M, Herdegen T, Jäättelä M, Aronheim A, Kallunki T.

    		01/21/2010
    whereas IKBKAP (Elongator) is recruited to both target and nontarget genes, only target genes display histone H3 hypoacetylation and progressively lower RNAPII density through the coding region in familial dysautonomia cells

    Transcription impairment and cell migration defects in elongator-depleted cells: implication for familial dysautonomia.
    Close P, Hawkes N, Cornez I, Creppe C, Lambert CA, Rogister B, Siebenlist U, Merville MP, Slaugenhaupt SA, Bours V, Svejstrup JQ, Chariot A.

    		01/21/2010
    Genetics of familial dysautonomia; tissue-specific expression of a splicing mutation (REVIEW)

    Genetics of familial dysautonomia. Tissue-specific expression of a splicing mutation in the IKBKAP gene.
    Slaugenhaupt SA.

    		01/21/2010
    The study results suggest that the polymorphisms in the coding region of the IKAP gene are unlikely to contribute to atopic disease risk in the Czech population.

    The role of the IKAP gene polymorphisms in atopic diseases in the middle European population.
    Schüller M, Izakovičová Hollá L, Bučková D, Znojil V, Štelcl M, Rybníček O, Vácha J, Schüller M, Izakovičová Hollá L, Bučková D, Znojil V, Štelcl M, Rybníček O, Vácha J.

    		01/21/2010
    Neurodevelopmental disease familial dysautonomia (FD)caused by a single-base change in the 5' splice site (5'ss) of intron 20 in the IKBKAP gene (c.2204+6T>C).

    Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia.
    Ibrahim EC, Hims MM, Shomron N, Burge CB, Slaugenhaupt SA, Reed R.

    		01/21/2010
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