Amy E. O’Connell
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View article: Loss of WNT2B Increases Progression from Dysplasia to Colorectal Cancer
Loss of WNT2B Increases Progression from Dysplasia to Colorectal Cancer Open
Colorectal cancer (CRC) is the third most common cancer and the second leading cause of cancer-related deaths in the United States, and upregulation of the WNT pathway is a primary driver in most cases. However, the role of individual WNT …
View article: Mesenchymal WNT2B is required for the development and function of the human intestine
Mesenchymal WNT2B is required for the development and function of the human intestine Open
Background and Aims WNT2B mutations result in Diarrhea-9 (DIAR9), a congenital diarrhea syndrome with an extreme phenotype and unique histological defects. Attempts to model DIAR9 in rodents and study patient epithelial tissue have not bee…
View article: Necrotizing enterocolitis causes increased ileal goblet cell loss in<i>Wnt2b</i>KO mice
Necrotizing enterocolitis causes increased ileal goblet cell loss in<i>Wnt2b</i>KO mice Open
WNT2B is Wnt ligand which is able to support intestinal stem cells (ISC) in culture and support the intestinal epithelium in vivo. We have previously shown that WNT2B is critical for resistance to colitis, but not small intestinal injury, …
View article: 7887 Non-Canonical Wnt Signaling Via WNT2B Is Critical For Adrenal Morphogenesis and Aldosterone Production
7887 Non-Canonical Wnt Signaling Via WNT2B Is Critical For Adrenal Morphogenesis and Aldosterone Production Open
Disclosure: K.S. Borges: None. D.W. Little III: None. T. de Almeida Magalhães: None. C. Ribeiro: None. K. Basham: None. T. Dumonte: None. S. Azova: None. A.E. O’Connell: None. N.A. Guagliardo: None. P.Q. Barrett: None. M. Berber: None. D. …
View article: Cataloguing the postnatal small intestinal transcriptome during the first postnatal month
Cataloguing the postnatal small intestinal transcriptome during the first postnatal month Open
In the first postnatal month, the developing mouse intestine shifts from an immature to a mature intestine that will sustain the organism throughout the lifespan. Here, we surveyed the mouse intestine in C57Bl/6 mice by RNA-Seq to evaluate…
View article: A 4-Month-Old With Jaundice, Lethargy, and Emesis
A 4-Month-Old With Jaundice, Lethargy, and Emesis Open
Acute liver failure is rare in the neonatal and infant population; however, when encountered, it requires timely diagnosis, management, and identification of the underlying etiology to provide the best clinical outcomes. Here, we present a…
View article: Non-canonical Wnt signaling triggered by WNT2B drives adrenal aldosterone production
Non-canonical Wnt signaling triggered by WNT2B drives adrenal aldosterone production Open
The steroid hormone aldosterone, produced by the zona glomerulosa (zG) of the adrenal gland, is a master regulator of plasma electrolytes and blood pressure. While aldosterone control by the renin-angiotensin system is well understood, oth…
View article: Applying the bronchopulmonary dysplasia framework to necrotizing enterocolitis
Applying the bronchopulmonary dysplasia framework to necrotizing enterocolitis Open
Necrotizing enterocolitis (NEC) is a devastating disease of the neonatal intestine, causing widespread intestinal necrosis as well systemic illness that frequently results in death. Because the clinical onset of NEC is sudden and difficult…
View article: M1 and M2 Macrophages Differentially Regulate Colonic Crypt Renewal
M1 and M2 Macrophages Differentially Regulate Colonic Crypt Renewal Open
Background The colonic epithelium is the most rapidly renewing tissue in the body and is organized into a single cell layer of invaginations called crypts. Crypt renewal occurs through Lgr5 + gut stem cells situated at the crypt base, whic…
View article: Antimicrobial peptides modulate lung injury by altering the intestinal microbiota
Antimicrobial peptides modulate lung injury by altering the intestinal microbiota Open
Background Mammalian mucosal barriers secrete antimicrobial peptides (AMPs) as critical, host-derived regulators of the microbiota. However, mechanisms that support microbiota homeostasis in response to inflammatory stimuli, such as suprap…
View article: Antimicrobial peptides modulate lung injury by altering the intestinal microbiota
Antimicrobial peptides modulate lung injury by altering the intestinal microbiota Open
This repository contains the OTU tables for "Antimicrobial peptides modulate pulmonary inflammation by altering the intestinal microbiota" by Abdelgawad and Nicola et al., an analysis of the role of antimicrobial peptide in the gut-lung ax…
View article: Antimicrobial peptides modulate lung injury by altering the intestinal microbiota
Antimicrobial peptides modulate lung injury by altering the intestinal microbiota Open
This repository contains the OTU tables for "Antimicrobial peptides modulate pulmonary inflammation by altering the intestinal microbiota" by Abdelgawad and Nicola et al., an analysis of the role of antimicrobial peptide in the gut-lung ax…
View article: Outcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome
Outcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome Open
Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder characterized by combined immunodeficiency, eczema, microthrombocytopenia, autoimmunity, and lymphoid malignancies. Gene therapy (GT) to modify autologous CD34+ cells is an emergin…
View article: WNT2B Deficiency Causes Increased Susceptibility to Colitis in Mice and Impairs Intestinal Epithelial Development in Humans
WNT2B Deficiency Causes Increased Susceptibility to Colitis in Mice and Impairs Intestinal Epithelial Development in Humans Open
Background and aims WNT2B is a canonical Wnt ligand previously thought to be fully redundant with other Wnts in the intestinal epithelium. However, humans with WNT2B deficiency have severe intestinal disease, highlighting a critical role f…
View article: Ectopic Rod Photoreceptor Development in Mice with Genetic Deficiency of WNT2B
Ectopic Rod Photoreceptor Development in Mice with Genetic Deficiency of WNT2B Open
Wnt/β-catenin signaling is essential for embryonic eye development in both the anterior eye and retina. WNT2B, a ligand and activator of the Wnt/β-catenin pathway, assists in the development of the lens and peripheral regions of the eye. I…
View article: Antimicrobial peptides modulate lung injury by altering the intestinal microbiota
Antimicrobial peptides modulate lung injury by altering the intestinal microbiota Open
SUMMARY Mammalian mucosal barriers secrete antimicrobial peptides (AMPs) as critical host-derived regulators of the microbiota. However, mechanisms that support homeostasis of the microbiota in response to inflammatory stimuli such as supr…
View article: Premature Infants Have Normal Maturation of the T Cell Receptor Repertoire at Term
Premature Infants Have Normal Maturation of the T Cell Receptor Repertoire at Term Open
Premature infants are known to have immature immune systems compared to term infants; however, the impacts of ex utero immune development are not well characterized. Our previous retrospective clinical review showed prolonged T cell lympho…
View article: Insights into the Role of Commensal-Specific T Cells in Intestinal Inflammation
Insights into the Role of Commensal-Specific T Cells in Intestinal Inflammation Open
Arne Gehlhaar,1,* Ashwin Inala,1,* Dhana Llivichuzhca-Loja,1,* Tatiana N Silva,1,* Comfort Y Adegboye,2 Amy E O’Connell,2,3 Liza Konnikova1,4,5 1Department of Pediatrics, Yale University, New Haven, CT, USA; 2Division of Newborn Medicine, …
View article: Inborn Errors of Immunity in the Premature Infant: Challenges in Recognition and Diagnosis
Inborn Errors of Immunity in the Premature Infant: Challenges in Recognition and Diagnosis Open
Due to heightened awareness and advanced genetic tools, inborn errors of immunity (IEI) are increasingly recognized in children. However, diagnosing of IEI in premature infants is challenging and, subsequently, reports of IEI in premature …
View article: Wnt2b Is Essential for Adrenocortical Progenitor Cell Fate and Zona Glomerulosa Identity in Vivo
Wnt2b Is Essential for Adrenocortical Progenitor Cell Fate and Zona Glomerulosa Identity in Vivo Open
Dysregulation of normal adrenal structure and function contributes to a spectrum of diseases from hypoplasia to cancer. Peripheral adrenocortical progenitor cells in the zona glomerulosa (zG) centripetally migrate and differentiate to repl…
View article: Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis
Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis Open
WNT2B is a member of the Wnt family, a group of signal transduction proteins involved in embryologic development and stem cell renewal and maintenance. We recently reported homozygous nonsense variants in WNT2B in three individuals with se…
View article: Gene and Stem Cell Therapies for Fetal Care
Gene and Stem Cell Therapies for Fetal Care Open
Fetal stem cell and gene therapy bring important therapeutic opportunities for select disorders that present in the fetal and neonatal periods. While this field is in its infancy, these therapies are starting to be available clinically, an…
View article: The Developmental Role of Serotonin: A Comparison of Short- and Long-term Blockade of the Serotonin Transporter on Behavioural Outcomes in Adulthood
The Developmental Role of Serotonin: A Comparison of Short- and Long-term Blockade of the Serotonin Transporter on Behavioural Outcomes in Adulthood Open
Serotonin is an important neurotransmitter that regulates a range of processes within the brain and is implicated in several psychiatric disorders. In addition, serotonin acts as a developmental signal during critical periods of prenatal d…
View article: Risk‐factors Associated With Poor Outcomes in VEO‐IBD Secondary to XIAP Deficiency
Risk‐factors Associated With Poor Outcomes in VEO‐IBD Secondary to XIAP Deficiency Open
Very early onset inflammatory bowel disease (VEO‐IBD) represents a diagnostic and treatment challenge. Here we present a case of VEO‐IBD secondary to a mutation in BIRC4 gene, which encodes X‐linked inhibitor of apoptosis protein (XIAP), i…
View article: Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation
Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation Open
Hbs1 has been established as a central component of the cell's translational quality control pathways in both yeast and prokaryotic models; however, the functional characteristics of its human ortholog (Hbs1L) have not been well-defined. W…