Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal RecessiveFAM20AMutations

Calcium regulation of tight junction permeability

(2012) Markus Bleich et al.   Annals of the New York Academy of Sciences

PTH-independent regulation of blood calcium concentration by the calcium-sensing receptor

(2012) Alexandre Loupy et al.   JOURNAL OF CLINICAL INVESTIGATION

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

Amelogenesis Imperfecta and Other Biomineralization Defects in Fam20a and Fam20c Null Mice

(2012) P. Vogel et al.   VETERINARY PATHOLOGY

Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome

(2011) James O'Sullivan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel FAM20A mutations in hypoplastic amelogenesis imperfecta

(2011) Sang Hyun Cho et al.   HUMAN MUTATION

Mineral metabolism and vitamin D in chronic kidney disease—more questions than answers

(2011) David J. A. Goldsmith et al.   Nature Reviews Nephrology

Familial Autosomal Recessive Renal Tubular Acidosis: Importance of Early Diagnosis

(2011) Asaf Vivante et al.   NEPHRON PHYSIOLOGY

Amelogenesis Imperfecta and Nephrocalcinosis Syndrome: A Case Report and Review of the Literature

(2011) Hercílio Martelli-Júnior et al.   NEPHRON PHYSIOLOGY

Renal Stone Disease: A Commentary on the Nature and Significance of Randall’s Plaque

(2011) A.P. Evan et al.   NEPHRON PHYSIOLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Molecular basis of epithelial Ca2+and Mg2+transport: insights from the TRP channel family

(2010) Henrik Dimke et al.   JOURNAL OF PHYSIOLOGY-LONDON

Insights into Driving Forces and Paracellular Permeability from Claudin-16 Knockdown Mouse

(2009) Qixian Shan et al.   Annals of the New York Academy of Sciences

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

IBDfinderandSNPsetter: Tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease

(2009) Ian M. Carr et al.   HUMAN MUTATION

Proteomic Analysis of Human Parotid Gland Exosomes by Multidimensional Protein Identification Technology (MudPIT)

(2009) Mireya Gonzalez-Begne et al.   JOURNAL OF PROTEOME RESEARCH

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, andKCNJ10Mutations

(2009) Detlef Bockenhauer et al.   NEW ENGLAND JOURNAL OF MEDICINE

Enhanced Detection of Low Abundance Human Plasma Proteins Using a Tandem IgY12-SuperMix Immunoaffinity Separation Strategy

(2008) Wei-Jun Qian et al.   MOLECULAR & CELLULAR PROTEOMICS