Mutations inRSPH1Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype
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Title
Mutations inRSPH1Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype
Authors
Keywords
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Journal
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
Volume 189, Issue 6, Pages 707-717
Publisher
American Thoracic Society
Online
2014-02-26
DOI
10.1164/rccm.201311-2047oc
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Note: Only part of the references are listed.- Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia
- (2013) Christina Austin-Tse et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms
- (2013) Michael R. Knowles et al. AMERICAN JOURNAL OF HUMAN GENETICS
- ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry
- (2013) Rim Hjeij et al. AMERICAN JOURNAL OF HUMAN GENETICS
- 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
- Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia
- (2013) Daniel J. Moore et al. AMERICAN JOURNAL OF HUMAN GENETICS
- ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6
- (2013) Maimoona A. Zariwala 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 nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans
- (2013) Maureen Wirschell et al. NATURE GENETICS
- DYX1C1 is required for axonemal dynein assembly and ciliary motility
- (2013) Aarti Tarkar et al. NATURE GENETICS
- CCDC65 Mutation Causes Primary Ciliary Dyskinesia with Normal Ultrastructure and Hyperkinetic Cilia
- (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
- Cilia, KIF3 molecular motor and nodal flow
- (2012) Nobutaka Hirokawa et al. CURRENT OPINION IN CELL BIOLOGY
- Multi-ethnic reference values for spirometry for the 3–95-yr age range: the global lung function 2012 equations
- (2012) Philip H. Quanjer et al. EUROPEAN RESPIRATORY JOURNAL
- Mutations inCCDC39andCCDC40are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms
- (2012) Dinu Antony et al. HUMAN MUTATION
- High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing
- (2012) Jan Halbritter et al. JOURNAL OF MEDICAL GENETICS
- Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
- (2012) Wenqing Fu et al. NATURE
- 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
- 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
- Primary Ciliary Dyskinesia Caused by Homozygous Mutation in DNAL1, Encoding Dynein Light Chain 1
- (2011) Masha Mazor et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations ofDNAH11in patients with primary ciliary dyskinesia with normal ciliary ultrastructure
- (2011) Michael R Knowles et al. THORAX
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- 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
- Loss-of-Function Mutations in the Human Ortholog of Chlamydomonas reinhardtii ODA7 Disrupt Dynein Arm Assembly and Cause Primary Ciliary Dyskinesia
- (2009) Philippe Duquesnoy et al. AMERICAN JOURNAL OF HUMAN 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
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia
- (2009) J. F. Papon et al. EUROPEAN RESPIRATORY JOURNAL
- Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome
- (2009) Margaret W Leigh et al. GENETICS IN MEDICINE
- Increased nasal epithelial ciliary beat frequency associated with lifestyle tobacco smoke exposure
- (2009) Haibo Zhou et al. INHALATION TOXICOLOGY
- DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm
- (2008) Niki Tomas Loges et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins
- (2008) Heymut Omran et al. NATURE
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