Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia
Published 2014 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia
Authors
Keywords
-
Journal
Nature Communications
Volume 5, Issue 1, Pages -
Publisher
Springer Nature
Online
2014-12-04
DOI
10.1038/ncomms6727
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- 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
- Restoring ciliary function to differentiated primary ciliary dyskinesia cells with a lentiviral vector
- (2014) L E Ostrowski et al. GENE THERAPY
- 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
- Structural mechanism of the dynein power stroke
- (2014) Jianfeng Lin et al. NATURE CELL BIOLOGY
- 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
- 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
- Founder Mutation inRSPH4AIdentified in Patients of Hispanic Descent with Primary Ciliary Dyskinesia
- (2013) M. Leigh Anne Daniels et al. HUMAN MUTATION
- The N-DRC forms a conserved biochemical complex that maintains outer doublet alignment and limits microtubule sliding in motile axonemes
- (2013) Raqual Bower et al. MOLECULAR BIOLOGY OF THE CELL
- Computer-assisted image analysis of human cilia and Chlamydomonas flagella reveals both similarities and differences in axoneme structure
- (2012) Eileen T. O'Toole et al. Cytoskeleton
- Polarity and asymmetry in the arrangement of dynein and related structures in theChlamydomonasaxoneme
- (2012) Khanh Huy Bui et al. JOURNAL OF CELL BIOLOGY
- Structural Studies of Ciliary Components
- (2012) Naoko Mizuno et al. JOURNAL OF MOLECULAR BIOLOGY
- 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
- Conditionally reprogrammed cells represent a stem-like state of adult epithelial cells
- (2012) F. A. Suprynowicz et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- ROCK Inhibitor and Feeder Cells Induce the Conditional Reprogramming of Epithelial Cells
- (2011) Xuefeng Liu et al. AMERICAN JOURNAL OF PATHOLOGY
- Cryoelectron tomography of radial spokes in cilia and flagella
- (2011) Gaia Pigino et al. JOURNAL OF CELL BIOLOGY
- Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia
- (2011) A Shoemark et al. JOURNAL OF CLINICAL PATHOLOGY
- Clustering and variance maps for cryo-electron tomography using wedge-masked differences
- (2011) John M. Heumann et al. JOURNAL OF STRUCTURAL BIOLOGY
- Three-dimensional structure of the radial spokes reveals heterogeneity and interactions with dyneins in Chlamydomonas flagella
- (2011) Cynthia F. Barber et al. MOLECULAR BIOLOGY OF THE CELL
- 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
- 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
- Ciliary defects and genetics of primary ciliary dyskinesia
- (2009) Estelle Escudier et al. Paediatric Respiratory Reviews
- Cilia orientation and the fluid mechanics of development
- (2008) Wallace F Marshall et al. CURRENT OPINION IN CELL BIOLOGY
- Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused byDNAH11mutations
- (2007) Georg C. Schwabe et al. HUMAN MUTATION
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started