Cystic kidney diseases: many ways to form a cyst

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

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

(2011) Liyun Sang et al.   CELL

Down-regulation of PKHD1 induces cell apoptosis through PI3K and NF-κB pathways

(2011) Liping Sun et al.   EXPERIMENTAL CELL RESEARCH

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

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

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

(2011) Francesc R Garcia-Gonzalo et al.   NATURE GENETICS

Mechanism-Based Therapeutics for Autosomal Dominant Polycystic Kidney Disease: Recent Progress and Future Prospects

(2011) Ming-Yang Chang et al.   NEPHRON CLINICAL PRACTICE

Ciliopathies

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

Spectrum of HNF1B Mutations in a Large Cohort of Patients Who Harbor Renal Diseases

(2010) L. Heidet et al.   Clinical Journal of the American Society of Nephrology

A polycystin-2 (TRPP2) dimerization domain essential for the function of heteromeric polycystin complexes

(2010) Aurélie Giamarchi et al.   EMBO JOURNAL

Novel targets for the treatment of autosomal dominant polycystic kidney disease

(2010) Franck A Belibi et al.   EXPERT OPINION ON INVESTIGATIONAL DRUGS

Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression

(2010) Frank Zaucke et al.   HUMAN MOLECULAR GENETICS

The cytoplasmic tail of fibrocystin contains a ciliary targeting sequence

(2010) John A. Follit et al.   JOURNAL OF CELL BIOLOGY

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

Aberrant Regulation of Planar Cell Polarity in Polycystic Kidney Disease

(2010) A. Luyten et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

The mTOR Pathway Is Activated in Human Autosomal-Recessive Polycystic Kidney Disease

(2010) Jan Ulrich Becker et al.   KIDNEY & BLOOD PRESSURE RESEARCH

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

(2010) Edgar A Otto et al.   NATURE GENETICS

Practical Genetics for Autosomal Dominant Polycystic Kidney Disease

(2010) York Pei   NEPHRON CLINICAL PRACTICE

Sirolimus and Kidney Growth in Autosomal Dominant Polycystic Kidney Disease

(2010) Andreas L. Serra et al.   NEW ENGLAND JOURNAL OF MEDICINE

Everolimus in Patients with Autosomal Dominant Polycystic Kidney Disease

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

Glomerulocystic kidney disease

(2010) John J. Bissler et al.   PEDIATRIC NEPHROLOGY

Similar renal outcomes in children with ADPKD diagnosed by screening or presenting with symptoms

(2010) Djalila Mekahli et al.   PEDIATRIC NEPHROLOGY

Nephrocystin-1 Forms a Complex with Polycystin-1 via a Polyproline Motif/SH3 Domain Interaction and Regulates the Apoptotic Response in Mammals

(2010) Claas Wodarczyk et al.   PLoS One

Impact of Mammalian Target of Rapamycin Inhibition on Autosomal-Dominant Polycystic Kidney Disease

(2010) R.P. Wüthrich et al.   TRANSPLANTATION PROCEEDINGS

Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure

(2009) Martina Živná et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Liver and kidney disease in ciliopathies

(2009) Meral Gunay-Aygun   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

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

Loss of Oriented Cell Division Does not Initiate Cyst Formation

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

HNF1B Mutations Associate with Hypomagnesemia and Renal Magnesium Wasting

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

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis

(2009) Kálmán Tory et al.   KIDNEY INTERNATIONAL

Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease

(2009) Sandro Rossetti et al.   KIDNEY INTERNATIONAL

Autosomal dominant polycystic kidney disease: the last 3 years

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

Genotype–phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease

(2009) Erick Denamur et al.   KIDNEY INTERNATIONAL

Wnt9b signaling regulates planar cell polarity and kidney tubule morphogenesis

(2009) Courtney M Karner et al.   NATURE GENETICS

DNA Testing for Live Kidney Donors at Risk for Autosomal Dominant Polycystic Kidney Disease

(2009) Edmund Huang et al.   TRANSPLANTATION

Nephronophthisis

(2008) Roslyn J Simms et al.   EUROPEAN 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

The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathway

(2008) Tiffiney R. Hartman et al.   HUMAN MOLECULAR GENETICS

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

Unified Criteria for Ultrasonographic Diagnosis of ADPKD

(2008) Y. Pei et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Increased left ventricular mass in children with autosomal dominant polycystic kidney disease and borderline hypertension

(2008) Melissa A. Cadnapaphornchai et al.   KIDNEY INTERNATIONAL

Nephronophthisis

(2008) Rémi Salomon et al.   PEDIATRIC NEPHROLOGY

Molecular Diagnostics in Autosomal Dominant Polycystic Kidney Disease: Utility and Limitations

(2007) X. Zhao et al.   Clinical Journal of the American Society of Nephrology