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James Mull Selected Research

Familial Dysautonomia (Riley Day Syndrome)

11/2011Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomia.
11/2011Specific correction of a splice defect in brain by nutritional supplementation.
3/2009Kinetin in familial dysautonomia carriers: implications for a new therapeutic strategy targeting mRNA splicing.
2/2009Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP.
2/2008IKBKAP mRNA in peripheral blood leukocytes: a molecular marker of gene expression and splicing in familial dysautonomia.
2/2007Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia.
8/2005Fludrocortisone in patients with familial dysautonomia--assessing effect on clinical parameters and gene expression.
3/2003Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.

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James Mull Research Topics

Disease

8Familial Dysautonomia (Riley Day Syndrome)
11/2011 - 03/2003
1Disease Progression
11/2011
1Neurodegenerative Diseases (Neurodegenerative Disease)
11/2011
1Inborn Genetic Diseases (Disease, Hereditary)
11/2011
1Neurofibromatoses (Neurofibromatosis)
02/2007
1Dizziness (Lightheadedness)
08/2005
1Orthostatic Hypotension (Postural Hypotension)
08/2005
1Headache (Headaches)
08/2005
1Syncope (Fainting)
08/2005
1Renal Insufficiency (Renal Failure)
08/2005

Drug/Important Bio-Agent (IBA)

6Proteins (Proteins, Gene)FDA Link
11/2011 - 03/2003
6Messenger RNA (mRNA)IBA
11/2011 - 08/2005
4I-kappa B KinaseIBA
11/2011 - 03/2003
4KinetinIBA
11/2011 - 02/2007
1Phosphotransferases (Kinase)IBA
11/2011
1FludrocortisoneIBA
08/2005