Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia
出版年份 2020 全文链接
标题
Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia
作者
关键词
Dyneins, Cilia, Swimming, Pathogen motility, Human genetics, Motor proteins, Epithelial cells, Homozygosity
出版物
PLoS Genetics
Volume 16, Issue 8, Pages e1008691
出版商
Public Library of Science (PLoS)
发表日期
2020-08-08
DOI
10.1371/journal.pgen.1008691
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注意：仅列出部分参考文献，下载原文获取全部文献信息。- How Does Cilium Length Affect Beating?
- (2019) Mathieu Bottier et al. BIOPHYSICAL JOURNAL
- WDR92 Is Required for Axonemal Dynein Heavy Chain Stability in Cytoplasm
- (2019) Ramila S. Patel-King et al. MOLECULAR BIOLOGY OF THE CELL
- FAP57/WDR65 targets assembly of a subset of inner arm dyneins and connects to regulatory hubs in cilia
- (2019) Jianfeng Lin et al. MOLECULAR BIOLOGY OF THE CELL
- De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry
- (2019) Julia Wallmeier et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Asymmetries in the cilia of Chlamydomonas
- (2019) Susan K. Dutcher PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
- Quantifying Ciliary Dynamics during Assembly Reveals Step-wise Waveform Maturation in Airway Cells
- (2018) Alina Oltean et al. AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY
- Ciliary proteins Fap43 and Fap44 interact with each other and are essential for proper cilia and flagella beating
- (2018) Paulina Urbanska et al. CELLULAR AND MOLECULAR LIFE SCIENCES
- Splicing mutations in human genetic disorders: examples, detection, and confirmation
- (2018) Abramowicz Anna et al. JOURNAL OF APPLIED GENETICS
- The IDA3 adapter, required for intraflagellar transport of I1 dynein, is regulated by ciliary length
- (2018) Emily L. Hunter et al. MOLECULAR BIOLOGY OF THE CELL
- A microtubule-dynein tethering complex regulates the axonemal inner dynein f (I1)
- (2018) Tomohiro Kubo et al. MOLECULAR BIOLOGY OF THE CELL
- The I1 dynein-associated tether and tether head complex is a conserved regulator of ciliary motility
- (2018) Gang Fu et al. MOLECULAR BIOLOGY OF THE CELL
- Establishment of the early cilia preassembly protein complex during motile ciliogenesis
- (2018) Amjad Horani et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia
- (2018) Laura Kasak et al. AMERICAN JOURNAL OF HUMAN GENETICS
- RPGRIP1L helps to establish the ciliary gate for entry of proteins
- (2018) Huawen Lin et al. JOURNAL OF CELL SCIENCE
- Mutation of serine/threonine protein kinase 36 (STK36 ) causes primary ciliary dyskinesia with a central pair defect
- (2017) Christine Edelbusch et al. HUMAN MUTATION
- Quantitative Proteomic Analysis of Human Airway Cilia Identifies Previously Uncharacterized Proteins of High Abundance
- (2017) Kevin Blackburn et al. JOURNAL OF PROTEOME RESEARCH
- X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
- (2017) Chiara Olcese et al. Nature Communications
- TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization
- (2016) Julia Wallmeier et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in DNAJB13 , Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility
- (2016) Elma El Khouri et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Genome-wide significance testing of variation from single case exomes
- (2016) Amy B Wilfert et al. NATURE GENETICS
- An Indexed, Mapped Mutant Library Enables Reverse Genetics Studies of Biological Processes in Chlamydomonas reinhardtii
- (2016) Xiaobo Li et al. PLANT CELL
- Robust Transgene Expression from Bicistronic mRNA in the Green Alga Chlamydomonas reinhardtii
- (2016) Masayuki Onishi et al. G3-Genes Genomes Genetics
- 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
- Continuous mucociliary transport by primary human airway epithelial cells in vitro
- (2015) Patrick R. Sears et al. AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY
- Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review
- (2015) Adam J. Shapiro et al. PEDIATRIC PULMONOLOGY
- The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
- (2015) et al. SCIENCE
- IFT–Cargo Interactions and Protein Transport in Cilia
- (2015) Karl F. Lechtreck TRENDS IN BIOCHEMICAL SCIENCES
- A NIMA-Related Kinase Suppresses the Flagellar Instability Associated with the Loss of Multiple Axonemal Structures
- (2015) Huawen Lin et al. PLoS Genetics
- Optimizing Cancer Genome Sequencing and Analysis
- (2015) Malachi Griffith et al. Cell Systems
- CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation
- (2014) Rim Hjeij et al. AMERICAN JOURNAL OF HUMAN GENETICS
- 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
- Nonsense Mutation in Coiled-Coil Domain Containing 151 Gene (CCDC151) Causes Primary Ciliary Dyskinesia
- (2014) Muslim M. Alsaadi et al. HUMAN MUTATION
- NPHP4 controls ciliary trafficking of membrane proteins and large soluble proteins at the transition zone
- (2014) J. Awata et al. JOURNAL OF CELL SCIENCE
- Off-Line High-pH Reversed-Phase Fractionation for In-Depth Phosphoproteomics
- (2014) Tanveer S. Batth et al. JOURNAL OF PROTEOME RESEARCH
- Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia
- (2014) Julia Wallmeier et al. NATURE GENETICS
- PredictProtein—an open resource for online prediction of protein structural and functional features
- (2014) Guy Yachdav et al. NUCLEIC ACIDS RESEARCH
- High-Throughput Genotyping of Green Algal Mutants Reveals Random Distribution of Mutagenic Insertion Sites and Endonucleolytic Cleavage of Transforming DNA
- (2014) R. Zhang et al. PLANT CELL
- A molecular ruler determines the repeat length in eukaryotic cilia and flagella
- (2014) T. Oda et al. SCIENCE
- MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia
- (2014) Mieke Boon et al. Nature Communications
- 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
- 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
- Rho-Associated Protein Kinase Inhibition Enhances Airway Epithelial Basal-Cell Proliferation and Lentivirus Transduction
- (2013) Amjad Horani et al. AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY
- Rapid transformation of Chlamydomonas reinhardtii without cell-wall removal
- (2013) Takashi Yamano et al. JOURNAL OF BIOSCIENCE AND BIOENGINEERING
- 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
- 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
- LRRC6 Mutation Causes Primary Ciliary Dyskinesia with Dynein Arm Defects
- (2013) Amjad Horani et al. PLoS One
- Molecular Basis of Tubulin Transport Within the Cilium by IFT74 and IFT81
- (2013) S. Bhogaraju et al. SCIENCE
- Culturing of Human Nasal Epithelial Cells at the Air Liquid Interface
- (2013) Loretta Müller et al. Jove-Journal of Visualized Experiments
- 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
- Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia
- (2012) Michael R. Knowles et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations inCCDC39andCCDC40are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms
- (2012) Dinu Antony et al. HUMAN MUTATION
- Polarity and asymmetry in the arrangement of dynein and related structures in theChlamydomonasaxoneme
- (2012) Khanh Huy Bui et al. JOURNAL OF CELL BIOLOGY
- 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
- Fiji: an open-source platform for biological-image analysis
- (2012) Johannes Schindelin et al. NATURE METHODS
- NIH Image to ImageJ: 25 years of image analysis
- (2012) Caroline A Schneider et al. NATURE METHODS
- Cryoelectron tomography reveals doublet-specific structures and unique interactions in the I1 dynein
- (2012) Thomas Heuser et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Ciliopathies: The Central Role of Cilia in a Spectrum of Pediatric Disorders
- (2011) Thomas W. Ferkol et al. JOURNAL OF PEDIATRICS
- ELM--the database of eukaryotic linear motifs
- (2011) H. Dinkel et al. NUCLEIC ACIDS RESEARCH
- Mutations ofDNAH11in patients with primary ciliary dyskinesia with normal ciliary ultrastructure
- (2011) Michael R Knowles et al. THORAX
- A Multifunctional Lentiviral-Based Gene Knockdown with Concurrent Rescue that Controls for Off-Target Effects of RNAi
- (2011) Yunfeng Feng et al. GENOMICS PROTEOMICS & BIOINFORMATICS
- Oda16/Wdr69 is essential for axonemal dynein assembly and ciliary motility during zebrafish embryogenesis
- (2010) Chunlei Gao et al. DEVELOPMENTAL DYNAMICS
- 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
- Synthesizing and Salvaging NAD+: Lessons Learned from Chlamydomonas reinhardtii
- (2010) Huawen Lin et al. PLoS Genetics
- Identification of dyneins that localize exclusively to the proximal portion of Chlamydomonas flagella
- (2009) T. Yagi et al. JOURNAL OF CELL SCIENCE
- ODA16 aids axonemal outer row dynein assembly through an interaction with the intraflagellar transport machinery
- (2008) Noveera T. Ahmed et al. JOURNAL OF CELL BIOLOGY
- Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins
- (2008) Heymut Omran et al. NATURE
- Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused byDNAH11mutations
- (2007) Georg C. Schwabe et al. HUMAN MUTATION
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