Ciliary Mechanisms of Cyst Formation in Polycystic Kidney Disease

Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease

(2016) C. M. Heyer et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Primary cilia are not calcium-responsive mechanosensors

(2016) M. Delling et al.   NATURE

Vibratory Urticaria Associated with a Missense Variant in ADGRE2

(2016) Steven E. Boyden et al.   NEW ENGLAND JOURNAL OF MEDICINE

Intraciliary Calcium Oscillations Initiate Vertebrate Left-Right Asymmetry

(2015) Shiaulou Yuan et al.   CURRENT BIOLOGY

Proteomics of Primary Cilia by Proximity Labeling

(2015) David U. Mick et al.   DEVELOPMENTAL CELL

Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner

(2015) Vladimir G. Gainullin et al.   JOURNAL OF CLINICAL INVESTIGATION

Adhesion G protein-coupled receptors are activated by exposure of a cryptic tethered agonist

(2015) Hannah M. Stoveken et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Bardet–Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein

(2014) Xuefeng Su et al.   HUMAN MOLECULAR GENETICS

Altered trafficking and stability of polycystins underlie polycystic kidney disease

(2014) Yiqiang Cai et al.   JOURNAL OF CLINICAL INVESTIGATION

Downregulating Hedgehog Signaling Reduces Renal Cystogenic Potential of Mouse Models

(2014) P. V. Tran et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

The kinesin-4 protein Kif7 regulates mammalian Hedgehog signalling by organizing the cilium tip compartment

(2014) Mu He et al.   NATURE CELL BIOLOGY

Polycystin-1: a master regulator of intersecting cystic pathways

(2014) Sorin V. Fedeles et al.   TRENDS IN MOLECULAR MEDICINE

Polycystic liver disease: ductal plate malformation and the primary cilium

(2014) Edgar S. Wills et al.   TRENDS IN MOLECULAR MEDICINE

Ciliary membrane proteins traffic through the Golgi via a Rabep1/GGA1/Arl3-dependent mechanism

(2014) Hyunho Kim et al.   Nature Communications

Progress in demystification of adhesion G protein-coupled receptors

(2013) Ines Liebscher et al.   BIOLOGICAL CHEMISTRY

The Ciliary G-Protein-Coupled Receptor Gpr161 Negatively Regulates the Sonic Hedgehog Pathway via cAMP Signaling

(2013) Saikat Mukhopadhyay et al.   CELL

Cilioplasm is a cellular compartment for calcium signaling in response to mechanical and chemical stimuli

(2013) Xingjian Jin et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Hyperphosphorylation of polycystin-2 at a critical residue in disease reveals an essential role for polycystin-1-regulated dephosphorylation

(2013) Andrew J. Streets et al.   HUMAN MOLECULAR GENETICS

Proximal Tubule Proliferation Is Insufficient to Induce Rapid Cyst Formation after Cilia Disruption

(2013) N. Sharma et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

A Pkd1-Fbn1 Genetic Interaction Implicates TGF-  Signaling in the Pathogenesis of Vascular Complications in Autosomal Dominant Polycystic Kidney Disease

(2013) D. Liu et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Type of PKD1 Mutation Influences Renal Outcome in ADPKD

(2013) E. Cornec-Le Gall et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Adenylyl Cyclase 6 Deficiency Ameliorates Polycystic Kidney Disease

(2013) S. Rees et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Direct recording and molecular identification of the calcium channel of primary cilia

(2013) Paul G. DeCaen et al.   NATURE

Primary cilia are specialized calcium signalling organelles

(2013) Markus Delling et al.   NATURE

Loss of cilia suppresses cyst growth in genetic models of autosomal dominant polycystic kidney disease

(2013) Ming Ma et al.   NATURE GENETICS

Genetically encoded calcium indicator illuminates calcium dynamics in primary cilia

(2013) Steven Su et al.   NATURE METHODS

The regulation of cystogenesis in a tissue engineered kidney disease system by abnormal matrix interactions

(2012) Balajikarthick Subramanian et al.   BIOMATERIALS

A GAIN in understanding autoproteolytic G protein-coupled receptors and polycystic kidney disease proteins

(2012) John J G Tesmer   EMBO JOURNAL

A novel evolutionarily conserved domain of cell-adhesion GPCRs mediates autoproteolysis

(2012) Demet Araç et al.   EMBO JOURNAL

Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients

(2012) Marie-Pierre Audrézet et al.   HUMAN MUTATION

Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity

(2012) Katharina Hopp et al.   JOURNAL OF CLINICAL INVESTIGATION

Tolvaptan in Patients with Autosomal Dominant Polycystic Kidney Disease

(2012) Vicente E. Torres et al.   NEW ENGLAND JOURNAL OF MEDICINE

Cilia at the Node of Mouse Embryos Sense Fluid Flow for Left-Right Determination via Pkd2

(2012) S. Yoshiba et al.   SCIENCE

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

(2011) Liyun Sang et al.   CELL

Pkd1l1 establishes left-right asymmetry and physically interacts with Pkd2

(2011) S. Field et al.   DEVELOPMENT

Pkd1l1 complexes with Pkd2 on motile cilia and functions to establish the left-right axis

(2011) K. Kamura et al.   DEVELOPMENT

Aurora A kinase activity influences calcium signaling in kidney cells

(2011) Olga V. Plotnikova et al.   JOURNAL OF CELL BIOLOGY

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

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

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

Polycystin-2 and phosphodiesterase 4C are components of a ciliary A-kinase anchoring protein complex that is disrupted in cystic kidney diseases

(2011) Y.-H. Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Conserved Bardet-Biedl Syndrome Proteins Assemble a Coat that Traffics Membrane Proteins to Cilia

(2010) Hua Jin et al.   CELL

Evidence of Extraordinary Growth in the Progressive Enlargement of Renal Cysts

(2010) J. J. Grantham et al.   Clinical Journal of the American Society of Nephrology

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

Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome

(2010) C. Cui et al.   Disease Models & Mechanisms

The ADPKD genes pkd1a/b and pkd2 regulate extracellular matrix formation

(2010) S. Mangos et al.   Disease Models & Mechanisms

Rapamycin Ameliorates PKD Resulting from Conditional Inactivation of Pkd1

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

Polycystin-1 Surface Localization Is Stimulated by Polycystin-2 and Cleavage at the G Protein-coupled Receptor Proteolytic Site

(2010) Hannah C. Chapin et al.   MOLECULAR BIOLOGY OF THE CELL

Primary cilia regulate mTORC1 activity and cell size through Lkb1

(2010) Christopher Boehlke et al.   NATURE CELL BIOLOGY

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation

(2010) Anita Becker-Heck et al.   NATURE GENETICS

The primary cilium: a signalling centre during vertebrate development

(2010) Sarah C. Goetz et al.   NATURE REVIEWS GENETICS

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

Situs Inversus in Dpcd/Poll–/–, Nme7–/–, and Pkd1l1–/– Mice

(2010) P. Vogel et al.   VETERINARY PATHOLOGY

The Vertebrate Primary Cilium in Development, Homeostasis, and Disease

(2009) Jantje M. Gerdes et al.   CELL

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

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

Nephronophthisis: Disease Mechanisms of a Ciliopathy

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

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

(2009) Sandro Rossetti et al.   KIDNEY INTERNATIONAL

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

(2009) Stephanie L Bielas et al.   NATURE GENETICS

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

Cyst formation and activation of the extracellular regulated kinase pathway after kidney specific inactivation of Pkd1

(2008) Sekiya Shibazaki et al.   HUMAN MOLECULAR GENETICS

Domain Mapping of the Polycystin-2 C-terminal Tail Usingde NovoMolecular Modeling and Biophysical Analysis

(2008) Andjelka Ćelić et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Determinants of renal volume in autosomal-dominant polycystic kidney disease

(2007) J.J. Grantham et al.   KIDNEY INTERNATIONAL