Ciliopathies: an expanding disease spectrum

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

(2010) Christian Gilissen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene

(2010) Joanna Walczak-Sztulpa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ofd1, a Human Disease Gene, Regulates the Length and Distal Structure of Centrioles

(2010) Veena Singla et al.   DEVELOPMENTAL CELL

CEP290, a gene with many faces: mutation overview and presentation of CEP290base

(2010) Frauke Coppieters et al.   HUMAN MUTATION

RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction

(2010) Carlos A. Murga-Zamalloa et al.   JOURNAL OF GENETICS

Randomized Clinical Trial of Long-Acting Somatostatin for Autosomal Dominant Polycystic Kidney and Liver Disease

(2010) M. C. Hogan et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Centriolar Association of ALMS1 and Likely Centrosomal Functions of the ALMS Motif–containing Proteins C10orf90 and KIAA1731

(2010) Victoria J. Knorz et al.   MOLECULAR BIOLOGY OF THE CELL

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

(2010) Edgar A Otto et al.   NATURE GENETICS

Everolimus in Patients with Autosomal Dominant Polycystic Kidney Disease

(2010) Gerd Walz et al.   NEW ENGLAND JOURNAL OF MEDICINE

Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and Ciliogenesis

(2010) Su Kyoung Kim et al.   SCIENCE

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

(2009) Karlien L.M. Coene et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa

(2009) Hui Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SnapShot: Intraflagellar Transport

(2009) Douglas G. Cole et al.   CELL

Centrioles, Centrosomes, and Cilia in Health and Disease

(2009) Erich A. Nigg et al.   CELL

The Vertebrate Primary Cilium in Development, Homeostasis, and Disease

(2009) Jantje M. Gerdes et al.   CELL

What drives cell morphogenesis: A look inside the vertebrate photoreceptor

(2009) Breandán Kennedy et al.   DEVELOPMENTAL DYNAMICS

CC2D2Amutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

(2009) Soumaya Mougou-Zerelli et al.   HUMAN MUTATION

Lateral transport of Smoothened from the plasma membrane to the membrane of the cilium

(2009) Ljiljana Milenkovic et al.   JOURNAL OF CELL BIOLOGY

2008 Homer W. Smith Award: Insights into the Pathogenesis of Polycystic Kidney Disease from Gene Discovery

(2009) P. C. Harris   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Loss of Oriented Cell Division Does not Initiate Cyst Formation

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

The planar cell polarity effector Fuz is essential for targeted membrane trafficking, ciliogenesis and mouse embryonic development

(2009) Ryan S. Gray et al.   NATURE CELL BIOLOGY

Wnt9b signaling regulates planar cell polarity and kidney tubule morphogenesis

(2009) Courtney M Karner et al.   NATURE GENETICS

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

CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290

(2008) Nicholas T. Gorden 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

Polycystic Kidney Disease

(2008) Peter C. Harris et al.   Annual Review of Medicine

Cholangiocyte primary cilia in liver health and disease

(2008) Anatoliy I. Masyuk et al.   DEVELOPMENTAL DYNAMICS

MKS3/TMEM67mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

(2008) Francesco Brancati et al.   HUMAN MUTATION

Jouberin localizes to collecting ducts and interacts with nephrocystin-1

(2008) Lorraine Eley et al.   KIDNEY INTERNATIONAL

Kruppel-Like Zinc Finger Protein Glis2 Is Essential for the Maintenance of Normal Renal Functions

(2008) Y.-S. Kim et al.   MOLECULAR AND CELLULAR BIOLOGY

G protein Gαi functions immediately downstream of Smoothened in Hedgehog signalling

(2008) Stacey K. Ogden 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

Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome

(2008) J. L. Tobin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA