Search Our Scientific Publications & Authors

J Clin Med 2022 Jul 26;11(15). Epub 2022 Jul 26.

Department of Biomedical Sciences of Cells and Systems, Section Molecular Cell Biology, University of Groningen, University Medical Center Groningen, 9713 AV Groningen, The Netherlands.

Microvillus inclusion disease (MVID) is a rare, inherited, congenital, diarrheal disorder that is invariably fatal if left untreated. Within days after birth, MVID presents as a life-threatening emergency characterized by severe dehydration, metabolic acidosis, and weight loss. Diagnosis is cumbersome and can take a long time. Read More

J Clin Med 2022 Jul 19;11(14). Epub 2022 Jul 19.

Department of Pediatrics, Gastroenterology and Hepatology, Yale University School of Medicine, New Haven, CT 06510, USA.

Microvillus inclusion disease (MVID), a lethal congenital diarrheal disease, results from loss of function mutations in the apical actin motor myosin VB (MYO5B). How loss of MYO5B leads to both malabsorption and fluid secretion is not well understood. Serum glucocorticoid-inducible kinase 1 (SGK1) regulates intestinal carbohydrate and ion transporters including cystic fibrosis transmembrane conductance regulator (CFTR). Read More

Front Genet 2022 30;13:872836. Epub 2022 May 30.

First Department of General Surgery & Pediatrics Research Institute of Hunan Province, Hunan Children's Hospital, Changsha, China.

Biallelically mutated is associated with microvillus inclusion disease (MVID, MIM: 251850), cholestasis, or both. This study aims at validating the splicing alteration and clinical features of an intron variant for diagnosis. A homozygous variant of , NM_001080467. Read More

Cell Mol Gastroenterol Hepatol 2022 Jun 1. Epub 2022 Jun 1.

Section of Surgical Sciences, Vanderbilt University Medical Center, Nashville, Tennessee; Department of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, Tennessee; Epithelial Biology Center, Vanderbilt University School of Medicine, Nashville, Tennessee; Nashville VA Medical Center, Nashville, Tennessee. Electronic address:

Microvillus inclusion disease (MVID) is a congenital diarrheal disorder resulting in life-threatening secretory diarrhea in newborns. Inactivating and nonsense mutations in myosin Vb (MYO5B) have been identified in MVID patients. Work using patient tissues, cell lines, mice, and pigs has led to critical insights into the pathology of MVID and a better understanding of both apical trafficking in intestinal enterocytes and intestinal stem cell differentiation. Read More

J Clin Invest 2022 05;132(10)

Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, Austria.

Variants in the UNC45A cochaperone have been recently associated with a syndrome combining diarrhea, cholestasis, deafness, and bone fragility. Yet the mechanism underlying intestinal failure in UNC45A deficiency remains unclear. Here, biallelic variants in UNC45A were identified by next-generation sequencing in 6 patients with congenital diarrhea. Read More