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Results: 1 to 20 of 128

1.

Rescue of a human mRNA splicing defect by the plant cytokinin kinetin.

Slaugenhaupt SA, Mull J, Leyne M, Cuajungco MP, Gill SP, Hims MM, Quintero F, Axelrod FB, Gusella JF.

Hum Mol Genet. 2004 Feb 15;13(4):429-36. Epub 2004 Jan 6.

PMID:
14709595
[PubMed - indexed for MEDLINE]
Free Article
2.

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.

J Mol Med (Berl). 2007 Feb;85(2):149-61. Epub 2007 Jan 6.

PMID:
17206408
[PubMed - indexed for MEDLINE]
3.

Kinetin in familial dysautonomia carriers: implications for a new therapeutic strategy targeting mRNA splicing.

Gold-von Simson G, Goldberg JD, Rolnitzky LM, Mull J, Leyne M, Voustianiouk A, Slaugenhaupt SA, Axelrod FB.

Pediatr Res. 2009 Mar;65(3):341-6. doi: 10.1203/PDR.0b013e318194fd52.

PMID:
19033881
[PubMed - indexed for MEDLINE]
4.

Specific correction of a splice defect in brain by nutritional supplementation.

Shetty RS, Gallagher CS, Chen YT, Hims MM, Mull J, Leyne M, Pickel J, Kwok D, Slaugenhaupt SA.

Hum Mol Genet. 2011 Nov 1;20(21):4093-101. doi: 10.1093/hmg/ddr333. Epub 2011 Aug 5.

PMID:
21821670
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Genome-wide analysis of familial dysautonomia and kinetin target genes with patient olfactory ecto-mesenchymal stem cells.

Boone N, Bergon A, Loriod B, Devèze A, Nguyen C, Axelrod FB, Ibrahim EC.

Hum Mutat. 2012 Mar;33(3):530-40. doi: 10.1002/humu.22010. Epub 2012 Jan 17.

PMID:
22190446
[PubMed - indexed for MEDLINE]
6.

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.

Am J Hum Genet. 2003 Mar;72(3):749-58. Epub 2003 Feb 6.

PMID:
12577200
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Olfactory stem cells, a new cellular model for studying molecular mechanisms underlying familial dysautonomia.

Boone N, Loriod B, Bergon A, Sbai O, Formisano-Tréziny C, Gabert J, Khrestchatisky M, Nguyen C, Féron F, Axelrod FB, Ibrahim EC.

PLoS One. 2010 Dec 20;5(12):e15590. doi: 10.1371/journal.pone.0015590.

PMID:
21187979
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomia.

Axelrod FB, Liebes L, Gold-Von Simson G, Mendoza S, Mull J, Leyne M, Norcliffe-Kaufmann L, Kaufmann H, Slaugenhaupt SA.

Pediatr Res. 2011 Nov;70(5):480-3. doi: 10.1038/pr.2011.705.

PMID:
21775922
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.

Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M, Krappmann D, Scheidereit C, Maayan C, Axelrod FB, Gusella JF.

Am J Hum Genet. 2001 Mar;68(3):598-605. Epub 2001 Jan 22.

PMID:
11179008
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Tocotrienols induce IKBKAP expression: a possible therapy for familial dysautonomia.

Anderson SL, Qiu J, Rubin BY.

Biochem Biophys Res Commun. 2003 Jun 20;306(1):303-9.

PMID:
12788105
[PubMed - indexed for MEDLINE]
11.

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.

Pediatr Res. 2008 Feb;63(2):186-90.

PMID:
18091349
[PubMed - indexed for MEDLINE]
12.

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.

Hum Mutat. 2007 Jan;28(1):41-53.

PMID:
16964593
[PubMed - indexed for MEDLINE]
13.

Familial dysautonomia.

Slaugenhaupt SA, Gusella JF.

Curr Opin Genet Dev. 2002 Jun;12(3):307-11. Review.

PMID:
12076674
[PubMed - indexed for MEDLINE]
14.

Modulation of aberrant NF1 pre-mRNA splicing by kinetin treatment.

Pros E, Fernández-Rodríguez J, Benito L, Ravella A, Capellá G, Blanco I, Serra E, Lázaro C.

Eur J Hum Genet. 2010 May;18(5):614-7. doi: 10.1038/ejhg.2009.212. Epub 2009 Nov 25.

PMID:
19935827
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia.

Anderson SL, Qiu J, Rubin BY.

Biochem Biophys Res Commun. 2003 Oct 17;310(2):627-33.

PMID:
14521957
[PubMed - indexed for MEDLINE]
16.

Of splice and men: what does the distribution of IKAP mRNA in the rat tell us about the pathogenesis of familial dysautonomia?

Mezey E, Parmalee A, Szalayova I, Gill SP, Cuajungco MP, Leyne M, Slaugenhaupt SA, Brownstein MJ.

Brain Res. 2003 Sep 5;983(1-2):209-14.

PMID:
12914982
[PubMed - indexed for MEDLINE]
17.

Phosphatidylserine increases IKBKAP levels in a humanized knock-in IKBKAP mouse model.

Bochner R, Ziv Y, Zeevi D, Donyo M, Abraham L, Ashery-Padan R, Ast G.

Hum Mol Genet. 2013 Jul 15;22(14):2785-94. doi: 10.1093/hmg/ddt126. Epub 2013 Mar 20.

PMID:
23515154
[PubMed - indexed for MEDLINE]
Free Article
18.

Cardiac glycosides correct aberrant splicing of IKBKAP-encoded mRNA in familial dysautonomia derived cells by suppressing expression of SRSF3.

Liu B, Anderson SL, Qiu J, Rubin BY.

FEBS J. 2013 Aug;280(15):3632-46. doi: 10.1111/febs.12355. Epub 2013 Jun 18.

PMID:
23711097
[PubMed - indexed for MEDLINE]
19.

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.

Genomics. 2007 Sep;90(3):389-96. Epub 2007 Jul 17.

PMID:
17644305
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs.

Lee G, Papapetrou EP, Kim H, Chambers SM, Tomishima MJ, Fasano CA, Ganat YM, Menon J, Shimizu F, Viale A, Tabar V, Sadelain M, Studer L.

Nature. 2009 Sep 17;461(7262):402-6. doi: 10.1038/nature08320. Epub 2009 Aug 19.

PMID:
19693009
[PubMed - indexed for MEDLINE]
Free PMC Article

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