Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms

Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation

(2010) Simon Edvardson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prospects for mTOR Inhibitor Use in Patients with Polycystic Kidney Disease and Hamartomatous Diseases

(2010) V. E. Torres et al.   Clinical Journal of the American Society of Nephrology

Broad-Minded Links Cell Cycle-Related Kinase to Cilia Assembly and Hedgehog Signal Transduction

(2010) Hyuk Wan Ko et al.   DEVELOPMENTAL CELL

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

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

(2010) Enza Maria Valente et al.   NATURE GENETICS

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

(2010) Carrie M Louie et al.   NATURE GENETICS

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

(2010) Edgar A Otto et al.   NATURE GENETICS

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

(2010) N. A. Zaghloul et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2010) Su Kyoung Kim et al.   SCIENCE

Clinical and molecular features of Joubert syndrome and related disorders

(2009) Melissa A. Parisi   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Ciliary biology: Understanding the cellular and genetic basis of human ciliopathies

(2009) Magdalena Cardenas-Rodriguez et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Polycystins and Primary Cilia: Primers for Cell Cycle Progression

(2009) Jing Zhou   Annual Review of Physiology

The Vertebrate Primary Cilium in Development, Homeostasis, and Disease

(2009) Jantje M. Gerdes et al.   CELL

Cystic kidney diseases and planar cell polarity signaling

(2009) RL Bacallao et al.   CLINICAL GENETICS

The Extracellular Domain of Smoothened Regulates Ciliary Localization and Is Required for High-Level Hh Signaling

(2009) Pia Aanstad et al.   CURRENT BIOLOGY

A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling

(2009) Scott D. Weatherbee et al.   HUMAN MOLECULAR GENETICS

The multimeric structure of polycystin-2 (TRPP2): structural-functional correlates of homo- and hetero-multimers with TRPC1

(2009) P. Zhang et al.   HUMAN MOLECULAR GENETICS

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

(2009) Norann A. Zaghloul et al.   JOURNAL OF CLINICAL INVESTIGATION

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

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

The Role of the Mammalian Target Of Rapamycin (mTOR) in Renal Disease

(2009) W. Lieberthal et al.   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

Nephronophthisis: Disease Mechanisms of a Ciliopathy

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

Planar Cell Polarity and the Kidney

(2009) H. McNeill   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Conditional Mutation of Pkd2 Causes Cystogenesis and Upregulates  -Catenin

(2009) I. Kim et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Autosomal dominant polycystic kidney disease: the last 3 years

(2009) Vicente E. Torres et al.   KIDNEY INTERNATIONAL

Wnt9b signaling regulates planar cell polarity and kidney tubule morphogenesis

(2009) Courtney M Karner et al.   NATURE GENETICS

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

(2009) Hemant Khanna et al.   NATURE GENETICS

Impaired Wnt–β-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy

(2009) Madeline A Lancaster et al.   NATURE MEDICINE

Primary Cilia Are Not Required for Normal Canonical Wnt Signaling in the Mouse Embryo

(2009) Polloneal Jymmiel R. Ocbina et al.   PLoS One

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

A BBSome Subunit Links Ciliogenesis, Microtubule Stability, and Acetylation

(2008) Alexander V. Loktev et al.   DEVELOPMENTAL CELL

Building it up and taking it down: The regulation of vertebrate ciliogenesis

(2008) Nicole Santos et al.   DEVELOPMENTAL DYNAMICS

Deciphering the function of canonical Wnt signals in development and disease: conditional loss- and gain-of-function mutations of  -catenin in mice

(2008) T. Grigoryan et al.   GENES & DEVELOPMENT

Hedgehog: functions and mechanisms

(2008) M. Varjosalo et al.   GENES & DEVELOPMENT

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

(2008) Vishal Patel et al.   HUMAN MOLECULAR GENETICS

TRPP2 and TRPV4 form a polymodal sensory channel complex

(2008) Michael Köttgen 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

Src Inhibition Ameliorates Polycystic Kidney Disease

(2008) W. E. Sweeney 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

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

Restoration of renal function in zebrafish models of ciliopathies

(2008) Jonathan L. Tobin et al.   PEDIATRIC NEPHROLOGY

Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia

(2008) N. F. Berbari et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

(2007) Valeska Frank et al.   HUMAN MUTATION