Mutations in mitochondrial DNA causing tubulointerstitial kidney disease

Human mitochondrial ribosomes can switch their structural RNA composition

(2016) Joanna Rorbach et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Combinatorial Conflicting Homozygosity (CCH) analysis enables the rapid identification of shared genomic regions in the presence of multiple phenocopies

(2015) Adam P Levine et al.   BMC GENOMICS

limma powers differential expression analyses for RNA-sequencing and microarray studies

(2015) Matthew E. Ritchie et al.   NUCLEIC ACIDS RESEARCH

2016 update of the PRIDE database and its related tools

(2015) Juan Antonio Vizcaíno et al.   NUCLEIC ACIDS RESEARCH

Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin

(2014) Arif B. Ekici et al.   KIDNEY INTERNATIONAL

Genenames.org: the HGNC resources in 2015

(2014) Kristian A. Gray et al.   NUCLEIC ACIDS RESEARCH

The Application of SILAC Mouse in Human Body Fluid Proteomics Analysis Reveals Protein Patterns Associated with IgA Nephropathy

(2013) Shilin Zhao et al.   Evidence-based Complementary and Alternative Medicine

Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease

(2013) Emma L. Blakely et al.   HUMAN MUTATION

QuaNCAT: quantitating proteome dynamics in primary cells

(2013) Andrew J M Howden et al.   NATURE METHODS

Heterogeneity of the Transition/Transversion Ratio in Drosophila and Hominidae Genomes

(2012) V. B. Seplyarskiy et al.   MOLECULAR BIOLOGY AND EVOLUTION

Mitochondrial tRNAPhe mutation as a cause of end-stage renal disease in childhood

(2012) Kristin E. D’Aco et al.   PEDIATRIC NEPHROLOGY

Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNAIle mutation causing hypertrophic cardiomyopathy

(2011) Elena Perli et al.   HUMAN MOLECULAR GENETICS

Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNAPhe gene

(2010) G. Zsurka et al.   NEUROLOGY

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL