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Article

The OSMR Gene Is Involved in Hirschsprung Associated Enterocolitis Susceptibility through an Altered Downstream Signaling.

International journal of molecular sciences - 7 Apr 2021

Bachetti Tiziana, Rosamilia Francesca, Bartolucci Martina, Santamaria Giuseppe, Mosconi Manuela, Sartori Serenella, De Filippo Maria Rosaria, Di Duca Marco, Obino Valentina, Avanzini Stefano, Mavilio Domenico, Candiani Simona, Petretto Andrea, Pini Prato Alessio, Ceccherini Isabella, Lantieri Francesca

Abstract excerpt

Hirschsprung (HSCR) Associated Enterocolitis (HAEC) is a common life-threatening complication in HSCR. HAEC is suggested to be due to a loss of gut homeostasis caused by impairment of immune system, barrier defense, and microbiome, likely related to genetic causes. No gene has been claimed to contribute to HAEC occurrence, yet. Genetic investigation of HAEC by Whole-Exome Sequencing (WES) on 24 HSCR patients...

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Identifiers

PMID: 33917126
DOI: 10.3390/ijms22083831
PMCID: PMC8067804

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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