Motile cilia defects in diseases other than primary ciliary dyskinesia: The contemporary diagnostic and research role for transmission electron microscopy

Mutation of serine/threonine protein kinase 36 (STK36 ) causes primary ciliary dyskinesia with a central pair defect

(2017) Christine Edelbusch et al.   HUMAN MUTATION

The development and functions of multiciliated epithelia

(2017) Nathalie Spassky et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Genes and molecular pathways underpinning ciliopathies

(2017) Jeremy F. Reiter et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Understanding Idiopathic Scoliosis: A New Zebrafish School of Thought

(2017) Curtis W. Boswell et al.   TRENDS IN GENETICS

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

(2017) Chiara Olcese et al.   Nature Communications

Rapid Expansion of Human Epithelial Stem Cells Suitable for Airway Tissue Engineering

(2016) Colin R. Butler et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

(2016) Jane S. Lucas et al.   EUROPEAN RESPIRATORY JOURNAL

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

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

Microtubule doublets are double-track railways for intraflagellar transport trains

(2016) L. Stepanek et al.   SCIENCE

Zebrafish models of idiopathic scoliosis link cerebrospinal fluid flow defects to spine curvature

(2016) D. T. Grimes et al.   SCIENCE

The importance of transmission electron microscopy analysis of spermatozoa: Diagnostic applications and basic research

(2016) Elena Moretti et al.   Systems Biology in Reproductive Medicine

Axoneme Structure from Motile Cilia

(2016) Takashi Ishikawa   Cold Spring Harbor Perspectives in Biology

The Central Apparatus of Cilia and Eukaryotic Flagella

(2016) Thomas D. Loreng et al.   Cold Spring Harbor Perspectives in Biology

Axonemal Dynein Arms

(2016) Stephen M. King   Cold Spring Harbor Perspectives in Biology

Modelling estimates of the burden of respiratory syncytial virus infection in children in the UK

(2016) Sylvia Taylor et al.   BMJ Open

Cilia Dysfunction in Lung Disease

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

Bardet Biedl Syndrome

(2015) Amelia Shoemark et al.   CHEST

Levonorgestrel decreases cilia beat frequency of human fallopian tubes and rat oviducts without changing morphological structure

(2015) Weihong Zhao et al.   CLINICAL AND EXPERIMENTAL PHARMACOLOGY AND PHYSIOLOGY

Ciliary function and motor protein composition of human fallopian tubes

(2015) Johanna Raidt et al.   HUMAN REPRODUCTION

Global genetic analysis in mice unveils central role for cilia in congenital heart disease

(2015) You Li et al.   NATURE

Cilia in the choroid plexus: their roles in hydrocephalus and beyond

(2015) Keishi Narita et al.   Frontiers in Cellular Neuroscience

Diagnosis and management of primary ciliary dyskinesia

(2014) J. S. Lucas et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Multiciliogenesis: Multicilin Directs Transcriptional Activation of Centriole Formation

(2014) Fernando R. Balestra et al.   CURRENT BIOLOGY

Multiciliated Cells

(2014) Eric R. Brooks et al.   CURRENT BIOLOGY

Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects

(2014) Alexandros Onoufriadis et al.   HUMAN MOLECULAR GENETICS

Cystic fibrosis: An inherited disease affecting mucin-producing organs

(2014) Camille Ehre et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

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

(2014) Julia Wallmeier et al.   NATURE GENETICS

Culture of Primary Ciliary Dyskinesia Epithelial Cells at Air-Liquid Interface Can Alter Ciliary Phenotype but Remains a Robust and Informative Diagnostic Aid

(2014) Robert A. Hirst et al.   PLoS One

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

(2014) Mieke Boon et al.   Nature Communications

Broadening the ciliopathy spectrum: Motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in theINVS/NPHP2gene

(2013) Sharon Moalem et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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

Ciliary ultrastructure in patients with chronic rhinosinusitis and primary ciliary dyskinesia

(2013) Ricardo Cassiano Demarco et al.   EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY

Ciliary dyskinesia is an early feature of respiratory syncytial virus infection

(2013) C. M. Smith et al.   EUROPEAN RESPIRATORY JOURNAL

The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans

(2013) Maureen Wirschell et al.   NATURE GENETICS

Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

(2012) Heike Olbrich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

OFD1mutations in males: phenotypic spectrum and ciliary basal body docking impairment

(2012) C Thauvin-Robinet et al.   CLINICAL GENETICS

Microtubules Enable the Planar Cell Polarity of Airway Cilia

(2012) Eszter K. Vladar et al.   CURRENT BIOLOGY

Persistent disruption of ciliated epithelium following paediatric lung transplantation

(2012) Biju Thomas et al.   EUROPEAN RESPIRATORY JOURNAL

RPGRmutations might cause reduced orientation of respiratory cilia

(2012) Zuzanna Bukowy-Bieryłło et al.   PEDIATRIC PULMONOLOGY

Value of quantitative ultramorphological sperm analysis in infertile men

(2012) Maria F. Skowronek et al.   Reproductive Biology

A Periciliary Brush Promotes the Lung Health by Separating the Mucus Layer from Airway Epithelia

(2012) B. Button et al.   SCIENCE

Light, polarizing, and transmission electron microscopy: Three methods for the evaluation of sperm quality

(2012) Giulia Collodel et al.   Systems Biology in Reproductive Medicine

Electron tomography of respiratory cilia

(2012) Amelia Shoemark et al.   THORAX

Loss of SPEF2 Function in Mice Results in Spermatogenesis Defects and Primary Ciliary Dyskinesia1

(2011) Anu Sironen et al.   BIOLOGY OF REPRODUCTION

Ciliopathies

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

Ciliopathies: an expanding disease spectrum

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

Quantification of Periciliary Fluid Height in Human Airway Biopsies Is Feasible, but Not Suitable as a Biomarker

(2010) Uta Griesenbach et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

CEP290, a gene with many faces: mutation overview and presentation of CEP290base

(2010) Frauke Coppieters et al.   HUMAN MUTATION

Ciliary dysfunction and ultrastructural abnormalities are features of severe asthma

(2010) Biju Thomas et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations

(2010) J. F. Papon et al.   JOURNAL OF MEDICAL GENETICS

Three-dimensional structural analysis of eukaryotic flagella/cilia by electron cryo-tomography

(2010) Khanh Huy Bui et al.   JOURNAL OF SYNCHROTRON RADIATION

The primary cilium: a signalling centre during vertebrate development

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

Making sense of cilia in disease: The human ciliopathies

(2009) Kate Baker et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

The BBSome

(2009) Hua Jin et al.   CURRENT BIOLOGY

The Primary Cilium as a Complex Signaling Center

(2009) Nicolas F. Berbari et al.   CURRENT BIOLOGY

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome

(2009) Margaret W Leigh et al.   GENETICS IN MEDICINE

The dynein regulatory complex is the nexin link and a major regulatory node in cilia and flagella

(2009) Thomas Heuser et al.   JOURNAL OF CELL BIOLOGY

Severe impaired respiratory ciliary function in Wegener granulomatosis

(2008) S Ullrich et al.   ANNALS OF THE RHEUMATIC DISEASES

Structure and function of mammalian cilia

(2008) Peter Satir et al.   HISTOCHEMISTRY AND CELL BIOLOGY

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