Current insights into renal ciliopathies: what can genetics teach us?

Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

(2012) Myriam Srour et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

(2012) Isabelle Perrault et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Informed consent for whole genome sequencing: A qualitative analysis of participant expectations and perceptions of risks, benefits, and harms

(2012) Holly K. Tabor et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Next-generation sequencing: ready for the clinics?

(2012) AN Desai et al.   CLINICAL GENETICS

Polycystic kidney disease

(2012) Theodore I. Steinman   CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION

Disease gene identification strategies for exome sequencing

(2012) Christian Gilissen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Lowe syndrome protein OCRL1 is involved in primary cilia assembly

(2012) Brian G. Coon et al.   HUMAN MOLECULAR GENETICS

Reprogramming the kidney: a novel approach for regeneration

(2012) Caroline E. Hendry et al.   KIDNEY INTERNATIONAL

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

(2012) Ji Eun Lee et al.   NATURE GENETICS

Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

(2012) J. H. Lee et al.   SCIENCE

Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis

(2011) Pleasantine Mill et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

(2011) Lijia Huang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski

(2011) Christian Thiel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

(2011) Cecilie Bredrup et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genomics really gets personal: How exome and whole genome sequencing challenge the ethical framework of human genetics research

(2011) Holly K. Tabor et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Zebrafish kidney development: Basic science to translational research

(2011) Lisa M. Swanhart et al.   BIRTH DEFECTS RESEARCH PART C-EMBRYO TODAY-REVIEWS

Polycystic kidney disease and therapeutic approaches

(2011) Eun-Young Park et al.   BMB Reports

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

(2011) Liyun Sang et al.   CELL

Modeling Human Disease in Humans: The Ciliopathies

(2011) Gaia Novarino et al.   CELL

Scrutinizing ciliopathies by unraveling ciliary interaction networks

(2011) Jeroen van Reeuwijk et al.   HUMAN MOLECULAR GENETICS

B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis

(2011) Katharina Hopp et al.   HUMAN MOLECULAR GENETICS

A novel murine allele of Intraflagellar Transport Protein 172 causes a syndrome including VACTERL-like features with hydrocephalus

(2011) J. M. Friedland-Little et al.   HUMAN MOLECULAR GENETICS

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

(2011) Claudia Dafinger et al.   JOURNAL OF CLINICAL INVESTIGATION

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

(2011) H. H. Arts et al.   JOURNAL OF MEDICAL GENETICS

Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for aPKD2missense mutation due to uniparental disomy

(2011) M Losekoot et al.   JOURNAL OF MEDICAL GENETICS

Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease

(2011) C. Bergmann et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

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

(2011) Moumita Chaki et al.   KIDNEY INTERNATIONAL

Modelling the long QT syndrome with induced pluripotent stem cells

(2011) Ilanit Itzhaki et al.   NATURE

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

(2011) Audrey Putoux et al.   NATURE GENETICS

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

(2011) Erica E Davis et al.   NATURE GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Ciliogenesis: building the cell's antenna

(2011) Hiroaki Ishikawa et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Ciliopathies

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

mTOR signaling in polycystic kidney disease

(2011) Oxana Ibraghimov-Beskrovnaya et al.   TRENDS IN MOLECULAR MEDICINE

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

Craniofacial ciliopathies: A new classification for craniofacial disorders

(2010) Samantha A. Brugmann et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Reducing Polycystic Liver Volume in ADPKD: Effects of Somatostatin Analogue Octreotide

(2010) A. Caroli et al.   Clinical Journal of the American Society of Nephrology

Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals

(2010) Sabine Janssen et al.   HUMAN GENETICS

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

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

(2010) E. A. Otto et al.   JOURNAL OF MEDICAL 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

Incompletely Penetrant PKD1 Alleles Mimic the Renal Manifestations of ARPKD

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

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

(2010) Edgar A Otto et al.   NATURE GENETICS

Mechanisms of Nephronophthisis and Related Ciliopathies

(2010) Toby W. Hurd et al.   NEPHRON EXPERIMENTAL NEPHROLOGY

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly

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

DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

(2009) Nathalie Dagoneau et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Connective tissue involvement in two patients with features of cranioectodermal dysplasia

(2009) Andrew E. Fry et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cranioectodermal dysplasia: A probable ciliopathy

(2009) Anastasia E. Konstantinidou et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Making sense of cilia in disease: The human ciliopathies

(2009) Kate Baker et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Advances in the pathogenesis and treatment of polycystic kidney disease

(2009) Vishal Patel et al.   CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION

Mouse mutagenesis identifies novel roles for left-right patterning genes in pulmonary, craniofacial, ocular, and limb development

(2009) Alexander Ermakov et al.   DEVELOPMENTAL DYNAMICS

Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6

(2009) Marion Delous et al.   HUMAN MOLECULAR GENETICS

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

(2009) D. P. Cavalcanti et al.   JOURNAL OF MEDICAL GENETICS

Safety and tolerability of sirolimus treatment in patients with autosomal dominant polycystic kidney disease

(2009) A. L. Serra et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

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

Identification and characterization of novel human tissue-specific RFX transcription factors

(2008) Syed Aftab et al.   BMC EVOLUTIONARY BIOLOGY

Co-inheritance of a PKD1 mutation and homozygous PKD2 variant: a potential modifier in autosomal dominant polycystic kidney disease

(2008) G. V. Z. Dedoussis et al.   EUROPEAN JOURNAL OF CLINICAL INVESTIGATION

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

(2008) Tobias Schäfer et al.   HUMAN MOLECULAR GENETICS

Sirolimus Reduces Polycystic Liver Volume in ADPKD Patients

(2008) Q. Qian 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

Restoration of renal function in zebrafish models of ciliopathies

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