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

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

Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects

(2015) Adrien Frommer et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Mutations inRSPH1Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype

(2014) Michael R. Knowles et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Characterizing the ultrastructure of primary ciliary dyskinesia transposition defect using electron tomography

(2014) Thomas Burgoyne et al.   Cytoskeleton

Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia

(2014) Johanna Raidt et al.   EUROPEAN RESPIRATORY JOURNAL

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

Space-Dependent Formation of Central Pair Microtubules and Their Interactions with Radial Spokes

(2014) Yuki Nakazawa et al.   PLoS One

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

(2014) Jianfeng Lin et al.   Nature Communications

Cilia-Mediated Hedgehog Signaling in Drosophila

(2014) Anujaianthi Kuzhandaivel et al.   Cell Reports

Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects

(2013) Esther Kott et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fused (Stk36) is a ciliary protein required for central pair assembly and motile cilia orientation in the mammalian oviduct

(2013) Yoko Inès Nozawa et al.   DEVELOPMENTAL DYNAMICS

Founder Mutation inRSPH4AIdentified in Patients of Hispanic Descent with Primary Ciliary Dyskinesia

(2013) M. Leigh Anne Daniels et al.   HUMAN MUTATION

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

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

RPGRmutations might cause reduced orientation of respiratory cilia

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

Mutations in Radial Spoke Head Genes and Ultrastructural Cilia Defects in East-European Cohort of Primary Ciliary Dyskinesia Patients

(2012) Ewa Ziętkiewicz et al.   PLoS One

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

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children

(2009) A. Barbato et al.   EUROPEAN RESPIRATORY JOURNAL

Fused has evolved divergent roles in vertebrate Hedgehog signalling and motile ciliogenesis

(2009) Christopher W. Wilson et al.   NATURE

Planarian Hh Signaling Regulates Regeneration Polarity and Links Hh Pathway Evolution to Cilia

(2009) J. C. Rink et al.   SCIENCE