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Items: 1 to 20 of 164

1.

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.

2.

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.

3.

Familial dysautonomia is caused by mutations of the IKAP gene.

Anderson SL, Coli R, Daly IW, Kichula EA, Rork MJ, Volpi SA, Ekstein J, Rubin BY.

Am J Hum Genet. 2001 Mar;68(3):753-8. Epub 2001 Jan 22.

4.

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.

Am J Med Genet. 2002 Jul 1;110(3):253-7.

PMID:
12116234
5.

Identification of the first non-Jewish mutation in familial Dysautonomia.

Leyne M, Mull J, Gill SP, Cuajungco MP, Oddoux C, Blumenfeld A, Maayan C, Gusella JF, Axelrod FB, Slaugenhaupt SA.

Am J Med Genet A. 2003 May 1;118A(4):305-8.

PMID:
12687659
6.

Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31.

Blumenfeld A, Slaugenhaupt SA, Liebert CB, Temper V, Maayan C, Gill S, Lucente DE, Idelson M, MacCormack K, Monahan MA, Mull J, Leyne M, Mendillo M, Schiripo T, Mishori E, Breakefield X, Axelrod FB, Gusella JF.

Am J Hum Genet. 1999 Apr;64(4):1110-8.

7.

Genomic organization and chromosomal localization of the mouse IKBKAP gene.

Coli R, Anderson SL, Volpi SA, Rubin BY.

Gene. 2001 Nov 14;279(1):81-9.

PMID:
11722848
8.

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
9.

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
10.

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.

11.

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
12.

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

Boone N, Bergon A, Loriod B, Dev├Ęze 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
13.

Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis.

Blumenfeld A, Slaugenhaupt SA, Axelrod FB, Lucente DE, Maayan C, Liebert CB, Ozelius LJ, Trofatter JA, Haines JL, Breakefield XO, et al.

Nat Genet. 1993 Jun;4(2):160-4.

PMID:
8102296
14.

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.

15.

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
16.

The molecular basis of familial dysautonomia: overview, new discoveries and implications for directed therapies.

Rubin BY, Anderson SL.

Neuromolecular Med. 2008;10(3):148-56. Epub 2007 Nov 6. Review.

PMID:
17985250
17.

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.

18.

Familial dysautonomia.

Slaugenhaupt SA, Gusella JF.

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

PMID:
12076674
19.

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
20.

Deletion of exon 20 of the Familial Dysautonomia gene Ikbkap in mice causes developmental delay, cardiovascular defects, and early embryonic lethality.

Dietrich P, Yue J, E S, Dragatsis I.

PLoS One. 2011;6(10):e27015. doi: 10.1371/journal.pone.0027015. Epub 2011 Oct 28.

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