Neel Dhingani
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View article: Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Disease Caused by TTC7A Deficiency
Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Disease Caused by TTC7A Deficiency Open
In a drug screen, we identified leflunomide as an agent that reduces apoptosis and activates AKT signaling in TTC7A-KO cells. In zebrafish with disruption of ttc7a, leflunomide restores gut motility, reduces intestinal tract narrowing, and…
View article: A99 RESCUING TTC7A MUTANT PHENOTYPES ASSOCIATED WITH VERY EARLY ONSET INFLAMMATORY BOWEL DISEASE (VEO-IBD)
A99 RESCUING TTC7A MUTANT PHENOTYPES ASSOCIATED WITH VERY EARLY ONSET INFLAMMATORY BOWEL DISEASE (VEO-IBD) Open
BACKGROUND: Very early onset inflammatory bowel disease (VEOIBD) is a severe disease presenting in children <6 years. Patients with TTC7A mutations present with apoptotic enterocolitis, disrupted intestinal architecture, multiple intestina…
View article: A276 INVESTIGATING THE ROLE OF TTC7A THROUGH ITS INTERACTION WITH UBR5 TO MAINTAIN CELL SURVIVAL
A276 INVESTIGATING THE ROLE OF TTC7A THROUGH ITS INTERACTION WITH UBR5 TO MAINTAIN CELL SURVIVAL Open
BACKGROUND: Patients with mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) results in a severe and untreatable form of inflammatory bowel disease with the majority dying before 2 years of age. Pathological features of these patients…
View article: A81 FUNCTIONAL ANALYSIS IMPLICATING SAMD9 MUTATION FOR INTESTINAL INFLAMMATION IN PATIENTS WITH MIRAGE SYNDROME AND INFLAMMATORY BOWEL DISEASE
A81 FUNCTIONAL ANALYSIS IMPLICATING SAMD9 MUTATION FOR INTESTINAL INFLAMMATION IN PATIENTS WITH MIRAGE SYNDROME AND INFLAMMATORY BOWEL DISEASE Open
BACKGROUND: MIRAGE syndrome is caused by heterozygous mutation in the SAMD9 gene. The syndrome is characteristic of enteropathy, and is often fatal within the first 2 years of life. However, the pathogenesis of enteropathy in the syndrome …