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in Acta Neuropathol

Disturbed function of the blood-cerebrospinal fluid barrier aggravates neuro-inflammation

G. Kooij et al.
in Proc Natl Acad Sci U S A

Deletion of claudin-10 (Cldn10) in the thick ascending limb impairs paracellular sodium permeability and leads to hypermagnesemia and nephrocalcinosis

T. Breiderhoff et al.
in Am J Hum Genet

CNNM2, encoding a basolateral protein required for renal Mg(2+) handling, is mutated in dominant hypomagnesemia

M. Stuiver et al.
in Am J Physiol Renal Physiol

Targeted deletion of murine Cldn16 identifies extra- and intrarenal compensatory mechanisms of Ca2+ and Mg2+ wasting

C. Will et al.
in Nephrol Dial Transplant

EUNEFRON, the European Network for the Study of Orphan Nephropathies

O. Devuyst et al.
in Am J Physiol Renal Physiol

Magnesium stimulates renal phosphate reabsorption

J. Thumfart et al.
in Hum Mol Genet

L1 retrotransposition can occur early in human embryonic development

J.A. van den Hurk et al.
in J Clin Endocrinol Metab

Unusual clinical presentation and possible rescue of a novel Claudin-16 mutation

D. Mueller et al.
in Hum Mol Genet

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: blocking endocytosis restores surface expression of a novel Claudin-16 mutant that lacks the entire C-terminal cytosolic tail

D. Mueller et al.
in Organogenesis

The European Renal Genome Project: An integrated approach towards understanding the genetics of kidney development and disease

T.E. Willnow et al.