The
Alleles
Disease Susceptibility
Enterocolitis
/ etiology
Gene Expression
Gene Frequency
Genetic Variation
Genotype
Hirschsprung Disease
/ complications
Humans
Models, Molecular
Oncostatin M Receptor beta Subunit
/ chemistry
Protein Conformation
Proteomics
/ methods
Signal Transduction
Structure-Activity Relationship
Exome Sequencing
Whole Genome Sequencing
Hirschsprung Associated Enterocolitis (HAEC)
Oncostatin-M receptor (OSMR)
Whole-Exome Sequencing (WES)
gut inflammation
mucosal immunity
proteomics
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
07 Apr 2021
07 Apr 2021
Historique:
received:
11
03
2021
revised:
26
03
2021
accepted:
28
03
2021
entrez:
30
4
2021
pubmed:
1
5
2021
medline:
21
5
2021
Statut:
epublish
Résumé
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 affected (HAEC) or not affected (HSCR-only) by enterocolitis and replication of results on a larger panel of patients allowed the identification of the HAEC susceptibility variant p.H187Q in the Oncostatin-M receptor (
Identifiants
pubmed: 33917126
pii: ijms22083831
doi: 10.3390/ijms22083831
pmc: PMC8067804
pii:
doi:
Substances chimiques
OSMR protein, human
0
Oncostatin M Receptor beta Subunit
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Ministero della Salute
ID : GR-2011-02347381
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