Associated Papers
Genetics of Magnesium Disorders.
Li H et al.
Kidney Diseases (basel, Switzerland), 2017
Genetic causes of hypercalciuric nephrolithiasis.
Stechman MJ et al.
Pediatric Nephrology (berlin, Germany), 2009
Claudin-16 affects transcellular Cl- secretion in MDCK cells.
Günzel D et al.
The Journal of Physiology, 2009
Inherited forms of renal hypomagnesemia: an update.
Knoers NV
Pediatric Nephrology (berlin, Germany), 2009
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC): compound heterozygous mutation in the claudin 16 (CLDN16) gene.
Hampson G et al.
Bmc Nephrology, 2008
Protein interactions in human genetic diseases.
Schuster-Böckler B et al.
Genome Biology, 2008
18199329 (PubMed )
Supplement: gb-2008-9-1-r9-S2.xls › Sheet1
Genetics of hypercalciuric nephrolithiasis: renal stone disease.
Stechman MJ et al.
Annals of the New York Academy of Sciences, 2007
A novel PCLN-1 gene mutation in familial hypomagnesemia with hypercalciuria and atypical phenotype.
Sanjad SA et al.
Pediatric Nephrology (berlin, Germany), 2007
Convergent and divergent ligand specificity among PDZ domains of the LAP and zonula occludens (ZO) families.
Zhang Y et al.
The Journal of Biological Chemistry, 2006
Unusual clinical presentation and possible rescue of a novel claudin-16 mutation.
Müller D et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
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.
Müller D et al.
Human Molecular Genetics, 2006
Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of Claudin-16.
Kausalya PJ et al.
The Journal of Clinical Investigation, 2006
A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting.
Müller D et al.
American Journal of Human Genetics, 2003
Select a paper to view details