Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: A case report [PDF]
Background: Sixty mutations of claudin 16 coding gene have been reported in familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) patients. Recent investigations revealed that a highly conserved glycine-leucine-tryptophan (115G-L-W117)
Bottillo, I +5 more
core +1 more source
Claudins are a family of tight junction membrane proteins that regulate paracellular permeability of epithelia, likely by forming the lining of the paracellular pore. Claudins are expressed throughout the renal tubule, and mutations in two claudin genes are now known to cause familial hypercalciuric hypomagnesemia with nephrocalcinosis. In this review,
Susanne, Angelow +2 more
openaire +3 more sources
Protein Kinase C Activation Has Distinct Effects on the Localization, Phosphorylation and Detergent Solubility of the Claudin Protein Family in Tight and Leaky Epithelial Cells [PDF]
We have previously shown that protein kinase C (PKC) activation has distinct effects on the structure and barrier properties of cultured epithelial cells (HT29 and MDCK I). Since the claudin family of tight junction (TJ)-associated proteins is considered
Anita Sjö +2 more
core +1 more source
Epithelia act as a barrier between the internal and external environments, and the movement of substances via the paracellular pathway is regulated by tight junctions (TJs). Claudins are major determinants of TJ permeability.
Shinsaku Tokuda +2 more
doaj +1 more source
Functional Analysis of Gastric Tight Junction Proteins in Xenopus laevis Oocytes
The epithelial barrier is crucial for proper gastrointestinal function, preventing the unwanted passage of solutes and therefore representing a prerequisite for vectorial transport.
Laura Stein, Nora Brunner, Salah Amasheh
doaj +1 more source
Celiac Disease Monocytes Induce a Barrier Defect in Intestinal Epithelial Cells [PDF]
Intestinal epithelial barrier function in celiac disease (CeD) patients is altered. However, the mechanism underlying this effect is not fully understood.
Branchi, Federica +6 more
core +1 more source
Background: Inflammatory bowel diseases are characterized by the alterations of the mucosa and gastrointestinal physiology, and the core of these alterations is endothelial cells.
Hui-Xin Zhang +3 more
doaj +1 more source
Intestinal barrier tightening by a cell-penetrating antibody to Bin1, a candidate target for immunotherapy of ulcerative colitis. [PDF]
Patients afflicted with ulcerative colitis (UC) are at increased risk of colorectal cancer. While its causes are not fully understood, UC is associated with defects in colonic epithelial barriers that sustain inflammation of the colon mucosa caused by ...
Alexander, Walker +8 more
core +2 more sources
Since the discovery of Claudins more than a decade ago, much has been learned about their structure-function relationships. Claudins are tetraspan membrane proteins responsible for the formation of tight junctions. In this capacity, Claudins form a tissue-specific selective permeability barrier that is critical for the function of the tissue.
openaire +2 more sources
Intestinal Barrier Function in Gluten-Related Disorders [PDF]
Gluten-related disorders include distinct disease entities, namely celiac disease, wheat-associated allergy and non-celiac gluten/wheat sensitivity. Despite having in common the contact of the gastrointestinal mucosa with components of wheat and other ...
Branchi, Federica +6 more
core +2 more sources

