Nephronophthisis: a pathological and genetic perspective

TEMPORARY REMOVAL: Genetic and Sporadic Renal Cystic Diseases During the Perinatal and Neonatal Period: Core Curriculum 2021

(2021) Rupesh Raina et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Loss of Anks6 leads to YAP deficiency and liver abnormalities

(2020) Merlin Airik et al.   HUMAN MOLECULAR GENETICS

Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy

(2019) Yo Jun Choi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Roscovitine blocks collecting duct cyst growth in Cep164-deficient kidneys

(2019) Rannar Airik et al.   KIDNEY INTERNATIONAL

Fluorescence in situ hybridization for the diagnosis of NPHP1 deletion-related nephronophthisis on renal biopsy

(2018) Christopher P Larsen et al.   HUMAN PATHOLOGY

Network for Early Onset Cystic Kidney Diseases—A Comprehensive Multidisciplinary Approach to Hereditary Cystic Kidney Diseases in Childhood

(2018) Jens Christian König et al.   Frontiers in Pediatrics

Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome

(2018) Sara Nuovo et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies

(2017) Shalabh Srivastava et al.   HUMAN MOLECULAR GENETICS

Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome

(2017) Xiaoyu Shi et al.   NATURE CELL BIOLOGY

Photoreceptor Cilia and Retinal Ciliopathies

(2017) Kinga M. Bujakowska et al.   Cold Spring Harbor Perspectives in Biology

Intraflagellar transport proteins 172, 80, 57, 54, 38, and 20 form a stable tubulin‐binding IFT‐B2 complex

(2016) Michael Taschner et al.   EMBO JOURNAL

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

(2016) Daniela A. Braun et al.   KIDNEY INTERNATIONAL

Ciliopathies

(2016) Daniela A. Braun et al.   Cold Spring Harbor Perspectives in Biology

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

(2016) Valentina Grampa et al.   PLoS Genetics

DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling

(2015) Markus Schueler et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome

(2015) Gisela G. Slaats et al.   JOURNAL OF CLINICAL INVESTIGATION

ANKS6 is the critical activator of NEK8 kinase in embryonic situs determination and organ patterning

(2015) Peter G. Czarnecki et al.   Nature Communications

Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability

(2014) Marion Failler et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Renal-Retinal Ciliopathy Gene Sdccag8 Regulates DNA Damage Response Signaling

(2014) R. Airik et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Downregulating Hedgehog Signaling Reduces Renal Cystogenic Potential of Mouse Models

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

Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies

(2014) Henry Fehrenbach et al.   PEDIATRIC NEPHROLOGY

Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis

(2014) Ann Marie Hynes et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

From the Radiologic Pathology Archives: Pediatric Polycystic Kidney Disease and Other Ciliopathies: Radiologic-Pathologic Correlation

(2014) Ellen M. Chung et al.   RADIOGRAPHICS

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

(2013) Jan Halbritter et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Centriole distal appendages promote membrane docking, leading to cilia initiation

(2013) B. E. Tanos et al.   GENES & DEVELOPMENT

Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression

(2013) Valeska Frank et al.   HUMAN MOLECULAR GENETICS

Mutation of the Mg2+ Transporter SLC41A1 Results in a Nephronophthisis-Like Phenotype

(2013) T. W. Hurd et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Joubert syndrome: congenital cerebellar ataxia with the molar tooth

(2013) Marta Romani et al.   LANCET NEUROLOGY

NEK8 Links the ATR-Regulated Replication Stress Response and S Phase CDK Activity to Renal Ciliopathies

(2013) Hyo Jei Claudia Choi et al.   MOLECULAR CELL

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

(2013) Sylvia Hoff et al.   NATURE GENETICS

Wnt and planar cell polarity signaling in cystic renal disease

(2013) Paraskevi Goggolidou   Organogenesis

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

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

Ciliary disorder of the skeleton

(2012) Celine Huber et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

(2012) Moumita Chaki et al.   CELL

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

(2012) Jan Halbritter et al.   JOURNAL OF MEDICAL GENETICS

ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting

(2012) M. C. Humbert et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

(2011) Liyun Sang et al.   CELL

Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros

(2011) Céline Burcklé et al.   HUMAN MOLECULAR GENETICS

NPHP4, a cilia-associated protein, negatively regulates the Hippo pathway

(2011) Sandra Habbig et al.   JOURNAL OF CELL BIOLOGY

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

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

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

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

(2011) Moumita Chaki et al.   KIDNEY INTERNATIONAL

Transition zone proteins and cilia dynamics

(2011) Thomas Benzing et al.   NATURE GENETICS

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

(2011) Erica E Davis et al.   NATURE GENETICS

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

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

Ciliopathies

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

Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia

(2010) Dai Shiba et al.   Cytoskeleton

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

Primary cilia regulate mTORC1 activity and cell size through Lkb1

(2010) Christopher Boehlke et al.   NATURE CELL BIOLOGY

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

(2010) Edgar A Otto et al.   NATURE GENETICS

The primary cilium: a signalling centre during vertebrate development

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

The polycystic kidney disease-related proteins Bicc1 and SamCystin interact

(2009) Emily E. Stagner et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Lateral transport of Smoothened from the plasma membrane to the membrane of the cilium

(2009) Ljiljana Milenkovic et al.   JOURNAL OF CELL BIOLOGY

Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton

(2009) H. R. Dawe et al.   JOURNAL OF CELL SCIENCE

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

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

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

(2009) D. Doherty et al.   JOURNAL OF MEDICAL GENETICS

Nephronophthisis: Disease Mechanisms of a Ciliopathy

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

Late progression of renal pathology and cyst enlargement is reduced by rapamycin in a mouse model of nephronophthisis

(2009) Vincent H. Gattone et al.   KIDNEY INTERNATIONAL

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

Intraflagellar transport, cilia, and mammalian Hedgehog signaling: Analysis in mouse embryonic fibroblasts

(2008) Polloneal Jymmiel R. Ocbina et al.   DEVELOPMENTAL DYNAMICS

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

(2008) Tobias Schäfer et al.   HUMAN MOLECULAR GENETICS

MKS3/TMEM67mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

(2008) Francesco Brancati et al.   HUMAN MUTATION

Nek8 Regulates the Expression and Localization of Polycystin-1 and Polycystin-2

(2008) E. Sohara 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

Jouberin localizes to collecting ducts and interacts with nephrocystin-1

(2008) Lorraine Eley et al.   KIDNEY INTERNATIONAL

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

The solitary (primary) cilium–A mechanosensory toggle switch in bone and cartilage cells

(2007) J.F. Whitfield   CELLULAR SIGNALLING

Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing

(2007) Edgar A. Otto et al.   HUMAN MUTATION