Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Atypical fundoscopic manifestation with good visual prognosis in familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Girón-Ortega M et al.
Ophthalmic Genetics, 2024
Mouse Models of Human Claudin-Associated Disorders: Benefits and Limitations.
Seker M et al.
International Journal of Molecular Sciences, 2019
Disease-associated mutations of claudin-19 disrupt retinal neurogenesis and visual function.
Wang SB et al.
Communications Biology, 2019
Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation.
Khan AO et al.
Ophthalmic Genetics, 2018
Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations.
Yamaguti PM et al.
Journal of Medical Genetics, 2017
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: clinical and molecular characteristics.
Claverie-Martin F
Clinical Kidney Journal, 2015
First report of a novel missense CLDN19 mutations causing familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a Chinese family.
Yuan T et al.
Calcified Tissue International, 2015
Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Claverie-Martín F et al.
Plos One, 2013
Impaired paracellular ion transport in the loop of Henle causes familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Haisch L et al.
Annals of the New York Academy of Sciences, 2012
Do cell junction protein mutations cause an airway phenotype in mice or humans?
Chang EH et al.
American Journal of Respiratory Cell and Molecular Biology, 2011
The role of tight junctions in paracellular ion transport in the renal tubule: lessons learned from a rare inherited tubular disorder.
Haisch L et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2011
Mutation in the tight-junction gene claudin 19 (CLDN19) and familial hypomagnesemia, hypercalciuria, nephrocalcinosis (FHHNC) and severe ocular disease.
Naeem M et al.
American Journal of Nephrology, 2011
Genetic causes of hypercalciuric nephrolithiasis.
Stechman MJ et al.
Pediatric Nephrology (berlin, Germany), 2009
Claudin-16 and claudin-19 interact and form a cation-selective tight junction complex.
Hou J et al.
The Journal of Clinical Investigation, 2008
Genetics of hypercalciuric nephrolithiasis: renal stone disease.
Stechman MJ et al.
Annals of the New York Academy of Sciences, 2007
Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement.
Konrad M et al.
American Journal of Human Genetics, 2006