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Molecular overview of progressive familial intrahepatic cholestasis
S Amirneni, N Haep, MA Gad… - World journal of …, 2020 - pmc.ncbi.nlm.nih.gov
Cholestasis is a clinical condition resulting from the imapairment of bile flow. This condition
could be caused by defects of the hepatocytes, which are responsible for the complex …
could be caused by defects of the hepatocytes, which are responsible for the complex …
The genetics of monogenic intestinal epithelial disorders
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 …
enteropathies (CoDEs), are a group of rare diseases that result from mutations in genes that …
Modeling the cell biology of monogenetic intestinal epithelial disorders
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 …
genes that are important for intestinal epithelial function cause a group of disorders …
Increased intestinal permeability and downregulation of absorptive ion transporters Nhe3, Dra, and Sglt1 contribute to diarrhea during Clostridioides difficile …
ABSTRACT Background & Aim Clostridioides difficile infection (CDI) is the leading cause of
hospital-acquired diarrhea and pseudomembranous colitis. Two protein toxins, TcdA and …
hospital-acquired diarrhea and pseudomembranous colitis. Two protein toxins, TcdA and …
Patient-derived enteroids provide a platform for the development of therapeutic approaches in microvillus inclusion disease
M Kalashyan, K Raghunathan, H Oller, MT Bayer… - The Journal of Clinical …, 2023 - jci.org
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 …
protein myosin Vb (MYO5B), is a severe infantile disease characterized by diarrhea …
Aquaporin: targets for dietary nutrients to regulate intestinal health
H Lv, Y Li, C Xue, N Dong, C Bi… - Journal of Animal …, 2022 - Wiley Online Library
Aquaporins (AQP) are a class of water channel membrane proteins that are widely
expressed in the gut. The biological functions of aquaporins, which regulate the absorption …
expressed in the gut. The biological functions of aquaporins, which regulate the absorption …
Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis
S **e, S Wei, X Ma, R Wang, T He, Z Zhang… - Frontiers in …, 2023 - frontiersin.org
Hereditary cholestatic liver disease caused by a class of autosomal gene mutations results
in jaundice, which involves the abnormality of the synthesis, secretion, and other disorders …
in jaundice, which involves the abnormality of the synthesis, secretion, and other disorders …
Lysophosphatidic acid increases maturation of brush borders and SGLT1 activity in MYO5B-deficient mice, a model of microvillus inclusion disease
I Kaji, JT Roland, M Watanabe, AC Engevik… - Gastroenterology, 2020 - Elsevier
Background & Aim Myosin VB (MYO5B) is an essential trafficking protein for membrane
recycling in gastrointestinal epithelial cells. The inactivating mutations of MYO5B cause the …
recycling in gastrointestinal epithelial cells. The inactivating mutations of MYO5B cause the …
Cell differentiation is disrupted by MYO5B loss through Wnt/Notch imbalance
Functional loss of myosin Vb (MYO5B) induces a variety of deficits in intestinal epithelial cell
function and causes a congenital diarrheal disorder, microvillus inclusion disease (MVID) …
function and causes a congenital diarrheal disorder, microvillus inclusion disease (MVID) …
Alterations in cellular metabolic pathway and epithelial cell maturation induced by MYO5B defects are partially reversible by LPAR5 activation
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 …
epithelial function and causes a congenital diarrheal disorder, namely, microvillus inclusion …