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WNT2B Deficiency Causes Increased Susceptibility to Colitis in Mice and Impairs Intestinal Epithelial Development in Humans.
O'Connell AE, Raveenthiraraj S, Adegboye C, Qi W, Khetani RS, Singh A, Sundaram N, Emeonye C, Lin J, Goldsmith JD, Thiagarajah JR, Carlone DL, Turner JR, Agrawal PB, Helmrath M, Breault DT. O'Connell AE, et al. bioRxiv [Preprint]. 2023 Apr 22:2023.04.21.537894. doi: 10.1101/2023.04.21.537894. bioRxiv. 2023. PMID: 37131772 Free PMC article. Preprint.
Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations.
O'Connell AE, Zhou F, Shah MS, Murphy Q, Rickner H, Kelsen J, Boyle J, Doyle JJ, Gangwani B, Thiagarajah JR, Kamin DS, Goldsmith JD, Richmond C, Breault DT, Agrawal PB. O'Connell AE, et al. Am J Hum Genet. 2018 Jul 5;103(1):131-137. doi: 10.1016/j.ajhg.2018.05.007. Epub 2018 Jun 14. Am J Hum Genet. 2018. PMID: 29909964 Free PMC article.
Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis.
Zhang YJ, Jimenez L, Azova S, Kremen J, Chan YM, Elhusseiny AM, Saeed H, Goldsmith J, Al-Ibraheemi A, O'Connell AE, Kovbasnjuk O, Rodan L, Agrawal PB, Thiagarajah JR. Zhang YJ, et al. Eur J Hum Genet. 2021 Jun;29(6):998-1007. doi: 10.1038/s41431-021-00812-1. Epub 2021 Feb 1. Eur J Hum Genet. 2021. PMID: 33526876 Free PMC article.
Antimicrobial peptides modulate lung injury by altering the intestinal microbiota.
Abdelgawad A, Nicola T, Martin I, Halloran BA, Tanaka K, Adegboye CY, Jain P, Ren C, Lal CV, Ambalavanan N, O'Connell AE, Jilling T, Willis KA. Abdelgawad A, et al. bioRxiv [Preprint]. 2023 Mar 15:2023.03.14.529700. doi: 10.1101/2023.03.14.529700. bioRxiv. 2023. Update in: Microbiome. 2023 Oct 16;11(1):226. doi: 10.1186/s40168-023-01673-0 PMID: 36993189 Free PMC article. Updated. Preprint.
A 4-Month-Old With Jaundice, Lethargy, and Emesis.
McCullagh K, Yeoh L, Holmes BM, Sacharow S, Wehrman A, Kritzer A, O'Connell AE. McCullagh K, et al. Among authors: o connell ae. Pediatrics. 2024 Oct 1;154(4):e2023065540. doi: 10.1542/peds.2023-065540. Pediatrics. 2024. PMID: 39290186
Non-canonical Wnt signaling triggered by WNT2B drives adrenal aldosterone production.
Borges KS, Little DW 3rd, Magalhães TA, Ribeiro C, Dumontet T, Lapensee C, Basham KJ, Seth A, Azova S, Guagliardo NA, Barrett PQ, Berber M, O'Connell AE, Turcu AF, Lerario AM, Mohan DR, Rainey W, Carlone DL, Hirschhorn JN, Salic A, Breault DT, Hammer GD. Borges KS, et al. Among authors: o connell ae. bioRxiv [Preprint]. 2024 Aug 24:2024.08.23.609423. doi: 10.1101/2024.08.23.609423. bioRxiv. 2024. PMID: 39229119 Free PMC article. Preprint.
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