James Mull

Tissue-Specific Expression of a Splicing Mutation in the Gene Causes Familial Dysautonomia

Susan A. Slaugenhaupt, Anat Blumenfeld, Sandra Gill et al. · The American Journal of Human Genetics · 2001 · 593 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +9

Tissue-Specific Reduction in Splicing Efficiency of IKBKAP Due to the Major Mutation Associated with Familial Dysautonomia

Math P. Cuajungco, Maire Leyne, James Mull et al. · The American Journal of Human Genetics · 2003 · 140 citations · Full text

Transcriptional Regulation, Genetic Disorder, Genetics +11

Loss of Mouse <i>Ikbkap</i>, a Subunit of Elongator, Leads to Transcriptional Deficits and Embryonic Lethality That Can Be Rescued by Human <i>IKBKAP</i>

Yei‐Tsung Chen, Matthew M. Hims, Ranjit S. Shetty et al. · Molecular and Cellular Biology · 2008 · 121 citations · Full text

Embryonic Lethality, Genetics, Embryology +19

Kinetin Improves IKBKAP mRNA Splicing in Patients With Familial Dysautonomia

Felicia B. Axelrod, Leonard Liebes, Gabrielle Gold‐von Simson et al. · Pediatric Research · 2011 · 98 citations · Full text

Transcriptional Regulation, Genetic Disorder, Genetics +7

Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia

Matthew M. Hims, El Chérif Ibrahim, Maire Leyne et al. · Journal of Molecular Medicine · 2007 · 73 citations

Therapeutic Potential, Genetics, Pathology +4