Frequency of Rare Allelic Variation in Candidate Genes among Individuals with Low and High Urinary Calcium Excretion

Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria

(2013) Benjamin Nota et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SLC13 family of Na+-coupled di- and tri-carboxylate/sulfate transporters

(2013) M.J. Bergeron et al.   MOLECULAR ASPECTS OF MEDICINE

Autosomal Dominant Hypercalciuria in a Mouse Model Due to a Mutation of the Epithelial Calcium Channel, TRPV5

(2013) Nellie Y. Loh et al.   PLoS One

Claudins and the Kidney

(2012) Jianghui Hou et al.   Annual Review of Physiology

Identification of Two Novel Mutations in the SLC4A1 Gene in Two Unrelated Chinese Families with Distal Renal Tubular Acidosis

(2012) Zeng Zhang et al.   ARCHIVES OF MEDICAL RESEARCH

Claudin-14 regulates renal Ca++transport in response to CaSR signalling via a novel microRNA pathway

(2012) Yongfeng Gong et al.   EMBO JOURNAL

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

(2012) T. Breiderhoff et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

(2011) Manuel A Rivas et al.   NATURE GENETICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Regulated transport of sulfate and oxalate by SLC26A2/DTDST

(2010) John F. Heneghan et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Urolithiasis and hepatotoxicity are linked to the anion transporter Sat1 in mice

(2010) Paul A. Dawson et al.   JOURNAL OF CLINICAL INVESTIGATION

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Calcium Kidney Stones

(2010) Elaine M. Worcester et al.   NEW ENGLAND JOURNAL OF MEDICINE

The genetic components of idiopathic nephrolithiasis

(2010) Massimo Attanasio   PEDIATRIC NEPHROLOGY

Association of Variants at UMOD with Chronic Kidney Disease and Kidney Stones—Role of Age and Comorbid Diseases

(2010) Daniel F. Gudbjartsson et al.   PLoS Genetics

Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density

(2009) Gudmar Thorleifsson et al.   NATURE GENETICS

Claudin-16 and claudin-19 interaction is required for their assembly into tight junctions and for renal reabsorption of magnesium

(2009) J. Hou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Knockout mouse models for intestinal electrolyte transporters and regulatory PDZ adaptors: new insights into cystic fibrosis, secretory diarrhoea and fructose-induced hypertension

(2008) Ursula Seidler et al.   EXPERIMENTAL PHYSIOLOGY

Functional characterization of genetic variants in NPC1L1 supports the sequencing extremes strategy to identify complex trait genes

(2008) Saleemah Fahmi et al.   HUMAN MOLECULAR GENETICS

Gain-of-function haplotype in the epithelial calcium channel TRPV6 is a risk factor for renal calcium stone formation

(2008) Yoshiro Suzuki et al.   HUMAN MOLECULAR GENETICS

Personal genomes: The case of the missing heritability

(2008) Brendan Maher   NATURE

Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease

(2008) Stefano Romeo et al.   NATURE GENETICS

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

(2008) Weizhen Ji et al.   NATURE GENETICS

NHERF1Mutations and Responsiveness of Renal Parathyroid Hormone

(2008) Zoubida Karim et al.   NEW ENGLAND JOURNAL OF MEDICINE

24-h uric acid excretion and the risk of kidney stones

(2007) G.C. Curhan et al.   KIDNEY INTERNATIONAL