Slaugenhaupt SA - Search Results

1

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. Gold-von Simson G, et al. Among authors: slaugenhaupt sa. Pediatr Res. 2008 Feb;63(2):186-90. doi: 10.1203/PDR.0b013e31815ef74b. Pediatr Res. 2008. PMID: 18091349

2

Fludrocortisone in patients with familial dysautonomia--assessing effect on clinical parameters and gene expression.

Axelrod FB, Goldberg JD, Rolnitzky L, Mull J, Mann SP, Gold von Simson G, Berlin D, Slaugenhaupt SA. Axelrod FB, et al. Among authors: slaugenhaupt sa. Clin Auton Res. 2005 Aug;15(4):284-91. doi: 10.1007/s10286-005-0288-1. Clin Auton Res. 2005. PMID: 16032383

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. Gold-von Simson G, et al. Among authors: slaugenhaupt sa. Pediatr Res. 2009 Mar;65(3):341-6. doi: 10.1203/PDR.0b013e318194fd52. Pediatr Res. 2009. PMID: 19033881

4

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. Axelrod FB, et al. Among authors: slaugenhaupt sa. Pediatr Res. 2011 Nov;70(5):480-3. doi: 10.1203/PDR.0b013e31822e1825. Pediatr Res. 2011. PMID: 21775922 Free PMC article.

5

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. Slaugenhaupt SA, et al. Hum Mol Genet. 2004 Feb 15;13(4):429-36. doi: 10.1093/hmg/ddh046. Epub 2004 Jan 6. Hum Mol Genet. 2004. PMID: 14709595

6

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. Hims MM, et al. Among authors: slaugenhaupt sa. J Mol Med (Berl). 2007 Feb;85(2):149-61. doi: 10.1007/s00109-006-0137-2. Epub 2007 Jan 6. J Mol Med (Berl). 2007. PMID: 17206408

7

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. Hims MM, et al. Among authors: slaugenhaupt sa. Genomics. 2007 Sep;90(3):389-96. doi: 10.1016/j.ygeno.2007.05.012. Epub 2007 Jul 17. Genomics. 2007. PMID: 17644305 Free PMC article.

8

Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP.

Chen YT, Hims MM, Shetty RS, Mull J, Liu L, Leyne M, Slaugenhaupt SA. Chen YT, et al. Among authors: slaugenhaupt sa. Mol Cell Biol. 2009 Feb;29(3):736-44. doi: 10.1128/MCB.01313-08. Epub 2008 Nov 17. Mol Cell Biol. 2009. PMID: 19015235 Free PMC article.

9

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. Cuajungco MP, et al. Among authors: slaugenhaupt sa. Am J Hum Genet. 2003 Mar;72(3):749-58. doi: 10.1086/368263. Epub 2003 Feb 6. Am J Hum Genet. 2003. PMID: 12577200 Free PMC article.

10

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. Leyne M, et al. Among authors: slaugenhaupt sa. Am J Med Genet A. 2003 May 1;118A(4):305-8. doi: 10.1002/ajmg.a.20052. Am J Med Genet A. 2003. PMID: 12687659

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