Kidney stone disease (nephrolithiasis) is a common problem that can be associated with
alterations in urinary solute composition including hypercalciuria. Studies suggest that the …

Sequential expression of claudins, a family of tight junction proteins, along the nephron
mirrors the sequential expression of ion channels and transporters. Only by the interplay of …

The overall diagnostic yield of massively parallel sequencing–based tests in patients with
chronic kidney disease (CKD) is 30% for paediatric cases and 6–30% for adult cases. These …

Amelogenesis imperfecta (AI) is a heterogeneous group of genetic rare diseases disrupting
enamel development (Smith et al., Front Physiol, 2017a, 8, 333). The clinical enamel …

Claudins are integral proteins expressed at the tight junctions of epithelial and endothelial
cells. In the mammalian kidney, every tubular segment express a specific set of claudins that …

Dental enamel malformations, or amelogenesis imperfecta (AI), can be isolated or
syndromic. To improve the prospects of making a successful diagnosis by genetic testing, it …

There is growing evidence showing that tight junctions play an important role in develo**
enamel. Claudins are one of the main components of tight junctions and may have pivotal …

Magnesium (Mg2+) is indispensable for several vital functions, such as neurotransmission,
cardiac conductance, blood glucose, blood pressure regulation, and proper function of more …

Enamel is the most calcified tissue in vertebrates. It differs from bone in a number of
characteristics including its origin from ectodermal epithelium, lack of remodeling capacity …

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC; OMIM
248250) is a rare autosomal recessive kidney disease caused by mutations in the CLDN16 …