Related references
Note: Only part of the references are listed.Airway Inflammation in Children with Primary Ciliary Dyskinesia
Scott D. Sagel et al.
ANNALS OF THE AMERICAN THORACIC SOCIETY (2023)
Single nucleotide substitutions effectively block Cas9 and allow for scarless genome editing in Caenorhabditis elegans
Jeffrey C. Medley et al.
GENETICS (2022)
Novel insights into surfactant protein C trafficking revealed through the study of a pathogenic mutant
Jennifer A. Dickens et al.
EUROPEAN RESPIRATORY JOURNAL (2022)
Derivation of Airway Basal Stem Cells from Human Pluripotent Stem Cells
Finn J. Hawkins et al.
CELL STEM CELL (2021)
Motile cilia genetics and cell biology: big results from little mice
Lance Lee et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2021)
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia
Amelia Shoemark et al.
EUROPEAN RESPIRATORY JOURNAL (2021)
Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system
Isabella Aprea et al.
MOLECULAR HUMAN REPRODUCTION (2021)
Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility
Isabella Aprea et al.
PLOS GENETICS (2021)
Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern Medicine
Lacramioara Ionela Butnariu et al.
JOURNAL OF CLINICAL MEDICINE (2021)
Cytoplasmic factories for axonemal dynein assembly
Stephen M. King
JOURNAL OF CELL SCIENCE (2021)
Primary ciliary dyskinesia in the genomics age
Jane S. Lucas et al.
LANCET RESPIRATORY MEDICINE (2020)
SCO-Spondin Defects and Neuroinflammation Are Conserved Mechanisms Driving Spinal Deformity across Genetic Models of Idiopathic Scoliosis
Chloe D. Rose et al.
CURRENT BIOLOGY (2020)
The Reissner Fiber Is Highly Dynamic In Vivo and Controls Morphogenesis of the Spine
Benjamin R. Troutwine et al.
CURRENT BIOLOGY (2020)
The inner junction complex of the cilia is an interaction hub that involves tubulin post-translational modifications
Ahmad Abdelzaher Zaki Khalifa et al.
ELIFE (2020)
A structural variation reference for medical and population genetics
Ryan L. Collins et al.
NATURE (2020)
Functional partitioning of a liquid-like organelle during assembly of axonemal dyneins
Chanjae Lee et al.
ELIFE (2020)
Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance
Ximena M. Bustamante-Marin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
Ciliary Beating Compartmentalizes Cerebrospinal Fluid Flow in the Brain and Regulates Ventricular Development
Emilie W. Olstad et al.
CURRENT BIOLOGY (2019)
ClinVar: improving access to variant interpretations and supporting evidence
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2018)
Quantifying Ciliary Dynamics during Assembly Reveals Stepwise Waveform Maturation in Airway Cells
Alina Oltean et al.
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY (2018)
Advances in the Genetics of Primary Ciliary Dyskinesia: Clinical Implications
Amjad Horani et al.
CHEST (2018)
Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients
Tamara Paff et al.
HUMAN MUTATION (2018)
Integrating single-cell transcriptomic data across different conditions, technologies, and species
Andrew Butler et al.
NATURE BIOTECHNOLOGY (2018)
Establishment of the early cilia preassembly protein complex during motile ciliogenesis
Amjad Horani et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)
ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms
Kyeong Jee Cho et al.
PLOS GENETICS (2018)
Strain-specific differences in brain gene expression in a hydrocephalic mouse model with motile cilia dysfunction
Casey W. McKenzie et al.
SCIENTIFIC REPORTS (2018)
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus
Mahmoud R. Fassad et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
A liquid-like organelle at the root of motile ciliopathy
Ryan L. Huizar et al.
ELIFE (2018)
Infertility in an adult cohort with primary ciliary dyskinesia: phenotype-gene association
Gert Jan Vanaken et al.
EUROPEAN RESPIRATORY JOURNAL (2017)
Genes and molecular pathways underpinning ciliopathies
Jeremy F. Reiter et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2017)
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
Chiara Olcese et al.
NATURE COMMUNICATIONS (2017)
Cilia-based flow network in the brain ventricles
Regina Faubel et al.
SCIENCE (2016)
Mutations in Dnaaf1 and Lrrc48 Cause Hydrocephalus, Laterality Defects, and Sinusitis in Mice
Seungshin Ha et al.
G3-GENES GENOMES GENETICS (2016)
Tissue-based map of the human proteome
Mathias Uhlen et al.
SCIENCE (2015)
Detailed Phenotypic and Molecular Analyses of Genetically Modified Mice Generated by CRISPR-Cas9-Mediated Editing
Bijal A. Parikh et al.
PLOS ONE (2015)
Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype
Michael R. Knowles et al.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2014)
HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus
Christine P. Diggle et al.
PLOS GENETICS (2014)
ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6
Maimoona A. Zariwala et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
DYX1C1 is required for axonemal dynein assembly and ciliary motility
Aarti Tarkar et al.
NATURE GENETICS (2013)
LRRC6 Mutation Causes Primary Ciliary Dyskinesia with Dynein Arm Defects
Amjad Horani et al.
PLOS ONE (2013)
Whole-Exome Capture and Sequencing Identifies HEATR2 Mutation as a Cause of Primary Ciliary Dyskinesia
Amjad Horani et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
Hannah M. Mitchison et al.
NATURE GENETICS (2012)
Loss of SPEF2 Function in Mice Results in Spermatogenesis Defects and Primary Ciliary Dyskinesia
Anu Sironen et al.
BIOLOGY OF REPRODUCTION (2011)
Conditional Deletion of Dnaic1 in a Murine Model of Primary Ciliary Dyskinesia Causes Chronic Rhinosinusitis
Lawrence E. Ostrowski et al.
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY (2010)
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
Helen V. Firth et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Evolutionary mutant models for human disease
R. Craig Albertson et al.
TRENDS IN GENETICS (2009)
Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins
Heymut Omran et al.
NATURE (2008)
Primary ciliary dyskinesia in mice lacking the novel ciliary protein Pcdp1
Lance Lee et al.
MOLECULAR AND CELLULAR BIOLOGY (2008)
RhoA-mediated apical actin enrichment is required for ciliogenesis and promoted by Foxj1
Jiehong Pan et al.
JOURNAL OF CELL SCIENCE (2007)
Role of f-box factor foxj1 in differentiation of ciliated airway epithelial cells
YJ You et al.
AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY (2004)
All-digital image capture and whole-field analysis of ciliary beat frequency
JH Sisson et al.
JOURNAL OF MICROSCOPY-OXFORD (2003)
Growth and differentiation of mouse tracheal epithelial cells: selection of a proliferative population
YJ You et al.
AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY (2002)
A proteomic analysis of human cilia - Identification of novel components
LE Ostrowski et al.
MOLECULAR & CELLULAR PROTEOMICS (2002)
Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus
I Ibañez-Tallon et al.
HUMAN MOLECULAR GENETICS (2002)
Comparison of ARM and HEAT protein repeats
MA Andrade et al.
JOURNAL OF MOLECULAR BIOLOGY (2001)
HEAT repeats associated with condensins, cohesins, and other complexes involved in chromosome-related functions
AF Neuwald et al.
GENOME RESEARCH (2000)
Ciliogenesis and left-right axis defects in forkhead factor HFH-4-null mice
SL Brody et al.
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY (2000)