Recent advances in the molecular diagnosis of polycystic kidney disease

Mutations in GANAB , Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease

(2016) Binu Porath et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Primary cilia are not calcium-responsive mechanosensors

(2016) M. Delling et al.   NATURE

Formation of the transition zone by Mks5/Rpgrip1L establishes a ciliary zone of exclusion (CIZE) that compartmentalises ciliary signalling proteins and controls PIP2 ciliary abundance

(2015) V. L. Jensen et al.   EMBO JOURNAL

Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

(2015) Arlene B. Chapman et al.   KIDNEY INTERNATIONAL

An Efficient and Comprehensive Strategy for Genetic Diagnostics of Polycystic Kidney Disease

(2015) Tobias Eisenberger et al.   PLoS One

Transcriptional Complexity in Autosomal Recessive Polycystic Kidney Disease

(2014) V. Frank et al.   Clinical Journal of the American Society of Nephrology

Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1

(2014) Ravindra Boddu et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Translational research in ADPKD: lessons from animal models

(2014) Hester Happé et al.   Nature Reviews Nephrology

Macrophages promote polycystic kidney disease progression

(2013) Katherine I Swenson-Fields et al.   KIDNEY INTERNATIONAL

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

(2013) Sylvia Hoff et al.   NATURE GENETICS

New approaches to the autosomal recessive polycystic kidney disease patient with dual kidney-liver complications

(2013) Grzegorz Telega et al.   PEDIATRIC TRANSPLANTATION

The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization

(2012) Jeremy F Reiter et al.   EMBO REPORTS

Looking at the (w)hole: magnet resonance imaging in polycystic kidney disease

(2012) Max Christoph Liebau et al.   PEDIATRIC NEPHROLOGY

Congenital fibrocystic liver diseases

(2011) Joost P.H. Drenth et al.   BEST PRACTICE & RESEARCH IN CLINICAL GASTROENTEROLOGY

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

(2011) Liyun Sang et al.   CELL

Educational paper

(2011) Carsten Bergmann   EUROPEAN JOURNAL OF PEDIATRICS

It’s not all in the cilium, but on the road to it: Genetic interaction network in polycystic kidney and liver diseases and how trafficking and quality control matter

(2011) Carsten Bergmann et al.   JOURNAL OF HEPATOLOGY

Third-Hit Signaling in Renal Cyst Formation

(2011) T. Weimbs   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Macrophages Promote Cyst Growth in Polycystic Kidney Disease

(2011) A. Karihaloo et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

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

A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation

(2011) Sorin V Fedeles et al.   NATURE GENETICS

Complex interactions between genes controlling trafficking in primary cilia

(2011) Polloneal Jymmiel R Ocbina et al.   NATURE GENETICS

Ciliopathies

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

Higher Harmonic Anisotropic Flow Measurements of Charged Particles in Pb-Pb Collisions atsNN=2.76  TeV

(2011) K. Aamodt et al.   PHYSICAL REVIEW LETTERS

Molecular Advances in Autosomal Dominant Polycystic Kidney Disease

(2010) Anna Rachel Gallagher et al.   ADVANCES IN CHRONIC KIDNEY DISEASE

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

(2010) Daniel Moreno-De-Luca et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Correlation of Kidney Function, Volume and Imaging Findings, and PKHD1 Mutations in 73 Patients with Autosomal Recessive Polycystic Kidney Disease

(2010) M. Gunay-Aygun et al.   Clinical Journal of the American Society of Nephrology

Endothelial cells from humans and mice with polycystic kidney disease are characterized by polyploidy and chromosome segregation defects through survivin down-regulation

(2010) Wissam A. AbouAlaiwi 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

Diagnosis and management of childhood polycystic kidney disease

(2010) William E. Sweeney et al.   PEDIATRIC NEPHROLOGY

Screening for Intracranial Aneurysm in 355 Patients With Autosomal-Dominant Polycystic Kidney Disease

(2010) H.W. Xu et al.   STROKE

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

Polycystins and Primary Cilia: Primers for Cell Cycle Progression

(2009) Jing Zhou   Annual Review of Physiology

Polycystin-1 and -2 Dosage Regulates Pressure Sensing

(2009) Reza Sharif-Naeini et al.   CELL

The Vertebrate Primary Cilium in Development, Homeostasis, and Disease

(2009) Jantje M. Gerdes et al.   CELL

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

(2009) Sandesh Chakravarthy Sreenath Nagamani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Toxic tubular injury in kidneys from Pkd1-deletion mice accelerates cystogenesis accompanied by dysregulated planar cell polarity and canonical Wnt signaling pathways

(2009) H. Happe et al.   HUMAN MOLECULAR GENETICS

Renal injury is a third hit promoting rapid development of adult polycystic kidney disease

(2009) Ayumi Takakura et al.   HUMAN MOLECULAR GENETICS

Pkd1 Haploinsufficiency Increases Renal Damage and Induces Microcyst Formation following Ischemia/Reperfusion

(2009) A. P. Bastos et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Characterization of PKD Protein-Positive Exosome-Like Vesicles

(2009) M. C. Hogan 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

PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis

(2009) Meral Gunay-Aygun et al.   MOLECULAR GENETICS AND METABOLISM

Dual and opposing roles of primary cilia in medulloblastoma development

(2009) Young-Goo Han et al.   NATURE MEDICINE

Primary cilia can both mediate and suppress Hedgehog pathway–dependent tumorigenesis

(2009) Sunny Y Wong et al.   NATURE MEDICINE

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

Biliary and Pancreatic Dysgenesis in Mice Harboring a Mutation in Pkhd1

(2008) Anna-Rachel Gallagher et al.   AMERICAN JOURNAL OF PATHOLOGY

The Aneuploidy Paradox in Cell Growth and Tumorigenesis

(2008) Beth A. Weaver et al.   CANCER CELL

Loss of polycystin-1 causes centrosome amplification and genomic instability

(2008) Lorenzo Battini et al.   HUMAN MOLECULAR 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

Polycystin-2 Expression Is Regulated by a PC2-binding Domain in the Intracellular Portion of Fibrocystin

(2008) Ingyu Kim et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Nephronophthisis

(2008) Rémi Salomon et al.   PEDIATRIC NEPHROLOGY

Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF)

(2008) Baris Turkbey et al.   PEDIATRIC RADIOLOGY