Ciliopathies

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

(2010) Enza Maria Valente et al.   NATURE GENETICS

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

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

Loss of Oriented Cell Division Does not Initiate Cyst Formation

(2009) S. Nishio et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

(2009) Stephanie L Bielas et al.   NATURE GENETICS

CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa

(2008) Abdul Noor et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

(2008) Vincent Cantagrel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of CC2D2A as a Meckel Syndrome Gene Adds an Important Piece to the Ciliopathy Puzzle

(2008) Jonna Tallila et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia

(2008) Vishal Patel et al.   HUMAN MOLECULAR GENETICS

TheCaenorhabditis elegansnephrocystins act as global modifiers of cilium structure

(2008) Andrew R. Jauregui et al.   JOURNAL OF CELL BIOLOGY

Fibrocystin/Polyductin Modulates Renal Tubular Formation by Regulating Polycystin-2 Expression and Function

(2008) I. Kim et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Nek8 Regulates the Expression and Localization of Polycystin-1 and Polycystin-2

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

NEK8 Mutations Affect Ciliary and Centrosomal Localization and May Cause Nephronophthisis

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

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

(2008) Carmen C Leitch et al.   NATURE GENETICS

Dishevelled controls apical docking and planar polarization of basal bodies in ciliated epithelial cells

(2008) Tae Joo Park et al.   NATURE GENETICS

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