Transcription of human nNOS exon 1c is altered by a single nucleotide promoter polymorphism in patients with infantile hypertrophic pyloric stenosis
D Saur, J-M Vanderwinden, B Seidler, RM Schmid, M-H DeLaet, H-D Allescher · Zeitschrift für Gastroenterologie · 2015 · Heft 05
Bibliografische Angaben
Zusammenfassung
Introduction: Infantile hypertrophic pyloric stenosis (IHPS) with an incidence of 1–5 per 1000 live birth is the most is the most frequent disorder requiring surgery in the first year of life. The desease is characterized by enlarged pyloric musculature and gastric-outlet obstruction leading to live threatening vomiting 3–6 weeks after birth. Altered expression of neuronal nitric oxide synthase (nNOS) has been associated with IHPS, as as the pyloric circular muscle layer shows decreased staining of nNOS positive neurons. In addition, we previously demonstrated decreased expression of nNOS exon 1c transcripts, wh…