ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

Clinical spectrum and pathogenesis of nephronophthisis

(2012) Thomas Benzing et al.   CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION

The ciliary protein Nek8/Nphp9 acts downstream of Inv/Nphp2 during pronephros morphogenesis and left-right establishment in zebrafish

(2012) Hajime Fukui et al.   FEBS LETTERS

Factor Inhibiting HIF (FIH) Recognizes Distinct Molecular Features within Hypoxia-inducible Factor-α (HIF-α)versusAnkyrin Repeat Substrates

(2012) Sarah E. Wilkins et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways

(2011) Liyun Sang et al.   CELL

MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis

(2011) Corey L. Williams et al.   JOURNAL OF CELL BIOLOGY

Genotype–phenotype correlation in 440 patients with NPHP-related ciliopathies

(2011) Moumita Chaki et al.   KIDNEY INTERNATIONAL

Ciliopathies

(2011) Friedhelm Hildebrandt et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Rac1 Regulator ELMO1 Controls Vascular Morphogenesis in Zebrafish

(2010) Daniel Epting et al.   CIRCULATION RESEARCH

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

(2010) John F. O’Toole et al.   JOURNAL OF CLINICAL INVESTIGATION

Factor inhibiting HIF limits the expression of hypoxia-inducible genes in podocytes and distal tubular cells

(2010) Johannes Schödel et al.   KIDNEY INTERNATIONAL

Inversin relays Frizzled-8 signals to promote proximal pronephros development

(2010) S. Lienkamp et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis

(2009) Kálmán Tory et al.   KIDNEY INTERNATIONAL

Regulation of ciliary polarity by the APC/C

(2009) A. Ganner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia

(2008) Carsten Bergmann et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Localization of Inv in a distinctive intraciliary compartment requires the C-terminal ninein-homolog-containing region

(2008) D. Shiba et al.   JOURNAL OF CELL SCIENCE

NEK8 Mutations Affect Ciliary and Centrosomal Localization and May Cause Nephronophthisis

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