Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)

(2009) E A Otto et al.   JOURNAL OF MEDICAL GENETICS

Nephronophthisis: Disease Mechanisms of a Ciliopathy

(2009) F. Hildebrandt et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

(2009) Hemant Khanna et al.   NATURE GENETICS

High-throughput generation of tagged stable cell lines for proteomic analysis

(2009) Jorge Z. Torres et al.   PROTEOMICS

A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations

(2009) Friedhelm Hildebrandt et al.   PLoS Genetics

A Genome-wide Association Study Identifies Three Loci Associated with Mean Platelet Volume

(2008) Christa Meisinger et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cystic Kidney Gene seahorse Regulates Cilia-Mediated Processes and Wnt Pathways

(2008) Norihito Kishimoto et al.   DEVELOPMENTAL CELL

Structure of Human Cytosolic X-prolyl Aminopeptidase

(2008) Xin Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

NEK8 Mutations Affect Ciliary and Centrosomal Localization and May Cause Nephronophthisis

(2008) E. A. Otto et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins

(2008) Heymut Omran et al.   NATURE

Loss of Fat4 disrupts PCP signaling and oriented cell division and leads to cystic kidney disease

(2008) Sakura Saburi et al.   NATURE GENETICS

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

(2008) Carmen C Leitch et al.   NATURE GENETICS

Zebrafish mutations affecting cilia motility share similar cystic phenotypes and suggest a mechanism of cyst formation that differs from pkd2 morphants

(2007) Jessica Sullivan-Brown et al.   DEVELOPMENTAL BIOLOGY

Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing

(2007) Edgar A. Otto et al.   HUMAN MUTATION