The genetics of monogenic intestinal epithelial disorders

SJ Babcock, D Flores-Marin, JR Thiagarajah - Human Genetics, 2023 - Springer
Monogenic intestinal epithelial disorders, also known as congenital diarrheas and
enteropathies (CoDEs), are a group of rare diseases that result from mutations in genes that …

Intestinal Tuft Cells: Morphology, Function, and Implications for Human Health

JB Silverman, PN Vega, MJ Tyska… - Annual Review of …, 2024 - annualreviews.org
Tuft cells are a rare and morphologically distinct chemosensory cell type found throughout
many organs, including the gastrointestinal tract. These cells were identified by their unique …

Patient-derived enteroids provide a platform for the development of therapeutic approaches in microvillus inclusion disease

M Kalashyan, K Raghunathan, H Oller… - The Journal of …, 2023 - Am Soc Clin Investig
Microvillus inclusion disease (MVID), caused by loss-of-function mutations in the motor
protein myosin Vb (MYO5B), is a severe infantile disease characterized by diarrhea …

Applications of human organoids in the personalized treatment for digestive diseases

Q Wang, F Guo, Y Jin, Y Ma - Signal Transduction and Targeted …, 2022 - nature.com
Digestive system diseases arise primarily through the interplay of genetic and environmental
influences; there is an urgent need in elucidating the pathogenic mechanisms of these …

Alterations in cellular metabolic pathway and epithelial cell maturation induced by MYO5B defects are partially reversible by LPAR5 activation

M Momoh, S Rathan-Kumar… - American Journal …, 2024 - journals.physiology.org
Functional loss of the motor protein myosin Vb (MYO5B) induces various defects in intestinal
epithelial function and causes a congenital diarrheal disorder, namely, microvillus inclusion …

A purified diet affects intestinal epithelial proliferation and barrier functions through gut microbial alterations

H Shiratori, KM Hattori, K Nakata… - International …, 2024 - academic.oup.com
The gut microbiota plays a crucial role in maintaining epithelial barrier function. Although
multiple studies have demonstrated the significance of dietary factors on the gut microbiota …

Luminal chemosensory cells in the small intestine

A Burman, I Kaji - Nutrients, 2021 - mdpi.com
In addition to the small intestine's well-known function of nutrient absorption, the small
intestine also plays a major role in nutrient sensing. Similar to taste sensors seen on the …

Modeling the cell biology of monogenetic intestinal epithelial disorders

I Kaji, JR Thiagarajah, JR Goldenring - Journal of Cell Biology, 2024 - rupress.org
Monogenetic variants are responsible for a range of congenital human diseases. Variants in
genes that are important for intestinal epithelial function cause a group of disorders …

Listeria motility increases the efficiency of epithelial invasion during intestinal infection

IMN Wortel, S Kim, AY Liu, EC Ibarra, MJ Miller - PLoS pathogens, 2022 - journals.plos.org
Listeria monocytogenes (Lm) is a food-borne pathogen that causes severe bacterial
gastroenteritis, with high rates of hospitalization and mortality. Lm is ubiquitous in soil, water …

[HTML][HTML] Altered MYO5B function underlies microvillus inclusion disease: opportunities for intervention at a cellular level

DM Bowman, I Kaji, JR Goldenring - Cellular and Molecular …, 2022 - Elsevier
Microvillus inclusion disease (MVID) is a congenital diarrheal disorder resulting in life-
threatening secretory diarrhea in newborns. Inactivating and nonsense mutations in myosin …