To beat, or not to beat, that is question! The spectrum of ciliopathies

Primary Cilia in Brain Development and Diseases

(2018) Yong Ha Youn et al.   AMERICAN JOURNAL OF PATHOLOGY

Airway ciliary dysfunction and respiratory symptoms in patients with transposition of the great arteries

(2018) Maliha Zahid et al.   PLoS One

The Cilium: Cellular Antenna and Central Processing Unit

(2017) Jarema J. Malicki et al.   TRENDS IN CELL BIOLOGY

Primary Cilia as a Possible Link between Left-Right Asymmetry and Neurodevelopmental Diseases

(2017) Andrey Trulioff et al.   Genes

The role of primary cilia in obesity and diabetes

(2016) Francesco Volta et al.   Annals of the New York Academy of Sciences

The cilium: a cellular antenna with an influence on obesity risk

(2016) Edwin C. M. Mariman et al.   BRITISH JOURNAL OF NUTRITION

Primary Ciliary Dyskinesia

(2016) Michael R. Knowles et al.   CLINICS IN CHEST MEDICINE

Dysfunction of intraflagellar transport-A causes hyperphagia-induced obesity and metabolic syndrome

(2016) Damon T. Jacobs et al.   Disease Models & Mechanisms

Systematic Analysis ofCCNOVariants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis

(2016) Israel Amirav et al.   HUMAN MUTATION

Motile and non-motile cilia in human pathology: from function to phenotypes

(2016) Hannah M Mitchison et al.   JOURNAL OF PATHOLOGY

Brain Dysplasia Associated with Ciliary Dysfunction in Infants with Congenital Heart Disease

(2016) Ashok Panigrahy et al.   JOURNAL OF PEDIATRICS

Respiratory manifestations in 38 patients with Alström syndrome

(2016) Caroline Boerwinkle et al.   PEDIATRIC PULMONOLOGY

Primary ciliary dyskinesia and associated sensory ciliopathies

(2016) Amjad Horani et al.   Expert Review of Respiratory Medicine

Cellular Mechanisms of Ciliary Length Control

(2016) Jacob Keeling et al.   Cells

Airway Epithelial Cell Cilia and Obstructive Lung Disease

(2016) Asma Yaghi et al.   Cells

Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex

(2015) Heike Olbrich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cilia Dysfunction in Lung Disease

(2015) Ann E. Tilley et al.   Annual Review of Physiology

Shared and Distinct Mechanisms of Compartmentalized and Cytosolic Ciliogenesis

(2015) Tomer Avidor-Reiss et al.   CURRENT BIOLOGY

Cardiac and Non-Cardiac Abnormalities in Heterotaxy Syndrome

(2015) Smita Mishra   INDIAN JOURNAL OF PEDIATRICS

Specialized Cilia in Mammalian Sensory Systems

(2015) Nathalie Falk et al.   Cells

Photoreceptor Sensory Cilium: Traversing the Ciliary Gate

(2015) Hemant Khanna   Cells

Cilia and Diseases

(2014) Jason M. Brown et al.   BIOSCIENCE

The prevalence of clinical features associated with primary ciliary dyskinesia in a heterotaxy population: results of a web-based survey

(2014) Adam J. Shapiro et al.   CARDIOLOGY IN THE YOUNG

Laterality Defects Other Than Situs Inversus Totalis in Primary Ciliary Dyskinesia

(2014) Adam J Shapiro et al.   CHEST

Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia

(2014) Julia Wallmeier et al.   NATURE GENETICS

Radiologic and Clinical Bronchiectasis Associated with Autosomal Dominant Polycystic Kidney Disease

(2014) Teng Moua et al.   PLoS One

Cilia and ciliopathies: Classic examples linking phenotype and genotype—An overview

(2014) Nicola Powles-Glover   REPRODUCTIVE TOXICOLOGY

Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia

(2014) Jianfeng Lin et al.   Nature Communications

MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia

(2014) Mieke Boon et al.   Nature Communications

Primary Ciliary Dyskinesia. Recent Advances in Diagnostics, Genetics, and Characterization of Clinical Disease

(2013) Michael R. Knowles et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

A unified model for left–right asymmetry? Comparison and synthesis of molecular models of embryonic laterality

(2013) Laura N. Vandenberg et al.   DEVELOPMENTAL BIOLOGY

The role of primary cilia in the development and disease of the retina

(2013) Gabrielle Wheway et al.   Organogenesis

High Prevalence of Respiratory Ciliary Dysfunction in Congenital Heart Disease Patients With Heterotaxy

(2012) Nader Nakhleh et al.   CIRCULATION

Ciliary aplasia associated with hydrocephalus: an extremely rare occurrence

(2012) Marco Berlucchi et al.   EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY

Scoring a backstage pass: Mechanisms of ciliogenesis and ciliary access

(2012) Francesc R. Garcia-Gonzalo et al.   JOURNAL OF CELL BIOLOGY

Cilia Discern Left from Right

(2012) D. P. Norris et al.   SCIENCE

Electron tomography of respiratory cilia

(2012) Amelia Shoemark et al.   THORAX

Cilia in the nervous system: linking cilia function and neurodevelopmental disorders

(2011) Ji E Lee et al.   CURRENT OPINION IN NEUROLOGY

Ultrastructural pathology of primary ciliary dyskinesia: report about 125 cases in Germany

(2011) Dirk Theegarten et al.   Diagnostic Pathology

Educational paper

(2011) Carsten Bergmann   EUROPEAN JOURNAL OF PEDIATRICS

Ciliopathies: The Central Role of Cilia in a Spectrum of Pediatric Disorders

(2011) Thomas W. Ferkol et al.   JOURNAL OF PEDIATRICS

Ciliopathies

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

Ciliopathies: an expanding disease spectrum

(2011) Aoife M. Waters et al.   PEDIATRIC NEPHROLOGY

Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting

(2011) A. L. D. Tadenev et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Primary Ciliary Dyskinesia in Children: A Review for Pediatricians, Allergists, and Pediatric Pulmonologists

(2011) Paul C. Stillwell et al.   Pediatric Allergy Immunology and Pulmonology

Ofd1, a Human Disease Gene, Regulates the Length and Distal Structure of Centrioles

(2010) Veena Singla et al.   DEVELOPMENTAL CELL

How cilia beat

(2010) T. J. Mitchison et al.   NATURE

Ciliary biology: Understanding the cellular and genetic basis of human ciliopathies

(2009) Magdalena Cardenas-Rodriguez et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Disorders of left-right asymmetry: Heterotaxy and situs inversus

(2009) Mardi J. Sutherland et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Olfactory Cilia: Linking Sensory Cilia Function and Human Disease

(2009) P. M. Jenkins et al.   CHEMICAL SENSES

Characterization of Primary Cilia in Human Airway Smooth Muscle Cells

(2009) Jun Wu et al.   CHEST

A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia

(2009) J. F. Papon et al.   EUROPEAN RESPIRATORY JOURNAL

The nonmotile ciliopathies

(2009) Jonathan L Tobin et al.   GENETICS IN MEDICINE

A Novel Mouse Model Reveals that Polycystin-1 Deficiency in Ependyma and Choroid Plexus Results in Dysfunctional Cilia and Hydrocephalus

(2009) Claas Wodarczyk et al.   PLoS One

Motile Cilia of Human Airway Epithelia Are Chemosensory

(2009) A. S. Shah et al.   SCIENCE

Autosomal Dominant Polycystic Kidney Disease Is Associated With an Increased Prevalence of Radiographic Bronchiectasis

(2008) James A. Driscoll et al.   CHEST

Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia

(2008) A. S. Shah et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA