Functional studies associate novel DUOX2 gene variants detected in heterozygosity to Crohn’s disease-Reference-Cited by-同舟云学术

Functional studies associate novel DUOX2 gene variants detected in heterozygosity to Crohn’s disease

Published:2024-03-08 Issue:1 Volume:51 Page:
ISSN:0301-4851
Container-title:Molecular Biology Reports
language:en
Short-container-title:Mol Biol Rep

Author:

Schwarz Martin^ORCID,Gazdarica Matej^ORCID,Froňková Eva^ORCID,Svatoň Michael^ORCID,Bronský Jiří^ORCID,Havlovicová Markéta^ORCID,Křepelová Anna^ORCID,Macek jr Milan^ORCID

Funder

Univerzita Karlova v Praze

Ministry of Youth Education and Sports, Czech Republic

Ministry of Health, Czech Republic

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s11033-024-09317-8.pdf

Reference20 articles.

1. Ashton JJ, Ennis S, Beattie RM (2017) Early-onset paediatric inflammatory bowel disease. Lancet Child Adolesc Health 1:147–158. https://doi.org/10.1016/S2352-4642(17)30017-2

2. Uhlig HH, Charbit-Henrion F, Kotlarz D et al (2021) Clinical Genomics for the diagnosis of monogenic forms of inflammatory bowel disease: a position paper from the Paediatric IBD Porto Group of European Society of Paediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr 72:456–473. https://doi.org/10.1097/MPG.0000000000003017

3. Levine AP, Pontikos N, Schiff ER et al (2016) Genetic complexity of Crohn’s Disease in two large Ashkenazi jewish families. Gastroenterology 151:698–709. https://doi.org/10.1053/j.gastro.2016.06.040

4. Hayes P, Dhillon S, O’Neill K et al (2015) Defects in nicotinamide-adenine dinucleotide phosphate oxidase genes NOX1 and DUOX2 in very early onset inflammatory bowel disease. Cell Mol Gastroenterol Hepatol 1:489–502. https://doi.org/10.1016/j.jcmgh.2015.06.005

5. Parlato M, Charbit-Henrion F, Hayes P et al (2017) First Identification of Biallelic inherited DUOX2 inactivating mutations as a cause of very early onset inflammatory bowel disease. Gastroenterology 153:609–611e3. https://doi.org/10.1053/j.gastro.2016.12.053

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