Picking up speed: advances in the genetics of primary ciliary dyskinesia

Asymmetric distribution of dynamic calcium signals in the node of mouse embryo during left–right axis formation

(2013) Daisuke Takao et al.   DEVELOPMENTAL BIOLOGY

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

(2013) Maureen Wirschell et al.   NATURE GENETICS

LRRC6 Mutation Causes Primary Ciliary Dyskinesia with Dynein Arm Defects

(2013) Amjad Horani et al.   PLoS One

Whole-Exome Capture and Sequencing Identifies HEATR2 Mutation as a Cause of Primary Ciliary Dyskinesia

(2012) Amjad Horani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss-of-Function Mutations in LRRC6 , a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia

(2012) Esther Kott et al.   AMERICAN JOURNAL OF HUMAN 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

Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia

(2012) Michael R. Knowles et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia

(2012) Alexandros Onoufriadis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2012) Nader Nakhleh et al.   CIRCULATION

Defective Nodal and Cerl2 expression in the Arl13bhnn mutant node underlie its heterotaxia

(2012) Christine E. Larkins et al.   DEVELOPMENTAL BIOLOGY

Management of primary ciliary dyskinesia in European children: recommendations and clinical practice

(2012) Marie-Pierre F. Strippoli et al.   EUROPEAN RESPIRATORY JOURNAL

Delineation ofCCDC39/CCDC40mutation spectrum and associated phenotypes in primary ciliary dyskinesia

(2012) Sylvain Blanchon et al.   JOURNAL OF MEDICAL GENETICS

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

(2012) Jennifer R Panizzi et al.   NATURE GENETICS

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

(2012) Hannah M Mitchison et al.   NATURE GENETICS

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

(2012) S. Yoshiba et al.   SCIENCE

Ciliary motility: The components and cytoplasmic preassembly mechanisms of the axonemal dyneins

(2011) Daisuke Kobayashi et al.   DIFFERENTIATION

Nasal nitric oxide and nitric oxide synthase expression in primary ciliary dyskinesia

(2011) M. Pifferi et al.   EUROPEAN RESPIRATORY JOURNAL

Regulation of ciliary beat frequency by the nitric oxide signaling pathway in mouse nasal and tracheal epithelial cells

(2011) Jian Jiao et al.   EXPERIMENTAL CELL RESEARCH

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

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

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

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

Mutations ofDNAH11in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

(2011) Michael R Knowles et al.   THORAX

Trafficking to the Ciliary Membrane: How to Get Across the Periciliary Diffusion Barrier?

(2010) Maxence V. Nachury et al.   Annual Review of Cell and Developmental Biology

Cooling of Cilia Allows Functional Analysis of the Beat Pattern for Diagnostic Testing

(2010) Claire M. Smith et al.   CHEST

New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure

(2010) M. Pifferi et al.   EUROPEAN RESPIRATORY JOURNAL

Ciliary entry of the kinesin-2 motor KIF17 is regulated by importin-β2 and RanGTP

(2010) John F. Dishinger 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

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

(2010) Anne-Christine Merveille et al.   NATURE GENETICS

Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm Defects

(2009) Niki Tomas Loges et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities

(2009) Victoria H. Castleman et al.   AMERICAN JOURNAL OF HUMAN 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

Long-Term Cigarette Smoke Exposure in a Mouse Model of Ciliated Epithelial Cell Function

(2009) Samantha M. Simet et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

The Vertebrate Primary Cilium in Development, Homeostasis, and Disease

(2009) Jantje M. Gerdes et al.   CELL

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

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS

Motile Cilia of Human Airway Epithelia Are Chemosensory

(2009) A. S. Shah et al.   SCIENCE

DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm

(2008) Niki Tomas Loges et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2008) James A. Driscoll et al.   CHEST

Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins

(2008) Heymut Omran et al.   NATURE