Related references
Note: Only part of the references are listed.A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia
Kazuhiko Takeuchi et al.
AURIS NASUS LARYNX (2018)
Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure
Lin Yang et al.
FRONTIERS IN GENETICS (2018)
Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk
Stephane E. Castel et al.
NATURE GENETICS (2018)
Evaluating Runs of Homozygosity in Exome Sequencing Data - Utility in Disease Inheritance Model Selection and Variant Filtering
Jorge Oliveira et al.
BIOMEDICAL ENGINEERING SYSTEMS AND TECHNOLOGIES (BIOSTEC 2017) (2018)
Major regulatory mechanisms involved in sperm motility
Rute Pereira et al.
ASIAN JOURNAL OF ANDROLOGY (2017)
Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations
Xuan Xu et al.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2017)
Cilia and Mucociliary Clearance
Ximena M. Bustamante-Marin et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2017)
Clinical care for primary ciliary dyskinesia: current challenges and future directions
Bruna Rubbo et al.
EUROPEAN RESPIRATORY REVIEW (2017)
Cryo-EM Reveals How Human Cytoplasmic Dynein Is Auto-inhibited and Activated
Kai Zhang et al.
CELL (2017)
CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature
Weiguo Sui et al.
CLINICAL RESPIRATORY JOURNAL (2016)
Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia
Gen Kano et al.
MOLECULAR MEDICINE REPORTS (2016)
Cilia-based flow network in the brain ventricles
Regina Faubel et al.
SCIENCE (2016)
Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents
Margaret W. Leigh et al.
ANNALS OF THE AMERICAN THORACIC SOCIETY (2016)
Clinical Features of Childhood Primary Ciliary Dyskinesia by Genotype and Ultrastructural Phenotype
Stephanie D. Davis et al.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2015)
Mutation analysis in patients with total sperm immotility
Rute Pereira et al.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2015)
New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing
Jorge Oliveira et al.
JOURNAL OF HUMAN GENETICS (2015)
A genome-wide approach to link genotype to clinical outcome by utilizing next generation sequencing and gene chip data of 6,697 breast cancer patients
Lorinc Pongor et al.
GENOME MEDICINE (2015)
Structure of human cytoplasmic dynein-2 primed for its power stroke
Helgo Schmidt et al.
NATURE (2015)
Graded gene expression changes determine phenotype severity in mouse models of CRX-associated retinopathies
Philip A. Ruzycki et al.
GENOME BIOLOGY (2015)
Diagnosis and management of primary ciliary dyskinesia
Jane S. Lucas et al.
ARCHIVES OF DISEASE IN CHILDHOOD (2014)
Left-Right Organizer Flow Dynamics: How Much Cilia Activity Reliably Yields Laterality?
Pedro Sampaio et al.
DEVELOPMENTAL CELL (2014)
A molecular ruler determines the repeat length in eukaryotic cilia and flagella
Toshiyuki Oda et al.
SCIENCE (2014)
Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia
Michael R. Knowles et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6
Maimoona A. Zariwala et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms
Dinu Antony et al.
HUMAN MUTATION (2013)
Primary Ciliary Dyskinesia-Causing Mutations in Amish and Mennonite Communities
Thomas W. Ferkol et al.
JOURNAL OF PEDIATRICS (2013)
RNA-Guided Human Genome Engineering via Cas9
Prashant Mali et al.
SCIENCE (2013)
Multiplex Genome Engineering Using CRISPR/Cas Systems
Le Cong et al.
SCIENCE (2013)
Human housekeeping genes, revisited
Eli Eisenberg et al.
TRENDS IN GENETICS (2013)
High Prevalence of Respiratory Ciliary Dysfunction in Congenital Heart Disease Patients With Heterotaxy
Nader Nakhleh et al.
CIRCULATION (2012)
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia
Sylvain Blanchon et al.
JOURNAL OF MEDICAL GENETICS (2012)
The 2.8 Å crystal structure of the dynein motor domain
Takahide Kon et al.
NATURE (2012)
Insights into dynein motor domain function from a 3.3-Å crystal structure
Helgo Schmidt et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2012)
Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia
Jana Djakow et al.
PEDIATRIC PULMONOLOGY (2012)
Structural Basis for Microtubule Binding and Release by Dynein
William B. Redwine et al.
SCIENCE (2012)
Protein localization in disease and therapy
Mien-Chie Hung et al.
JOURNAL OF CELL SCIENCE (2011)
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation
Anita Becker-Heck et al.
NATURE GENETICS (2011)
Exome sequencing as a tool for Mendelian disease gene discovery
Michael J. Bamshad et al.
NATURE REVIEWS GENETICS (2011)
Ciliary Transport, Gamete Interaction, and Effects of the Early Embryo in the Oviduct: Ex Vivo Analyses Using a New Digital Videomicroscopic System in the Cow
Sabine Koelle et al.
BIOLOGY OF REPRODUCTION (2009)
Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia
M. Failly et al.
JOURNAL OF MEDICAL GENETICS (2009)
HomozygosityMapper-an interactive approach to homozygosity mapping
Dominik Seelow et al.
NUCLEIC ACIDS RESEARCH (2009)
DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm
Niki Tomas Loges et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Cystic fibrosis mouse models
Claudine Guilbault et al.
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY (2007)
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects
Nada Hornef et al.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2006)
The reproductive significance of human Fallopian tube cilia
R. A. Lyons et al.
HUMAN REPRODUCTION UPDATE (2006)
Prediction of protein stability changes for single-site mutations using support vector machines
JL Cheng et al.
PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS (2006)
The affinity of the dynein microtubule-binding domain is modulated by the conformation of its coiled-coil stalk
IR Gibbons et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia
M Fliegauf et al.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2005)
Genomic variants in exons and introns: identifying the splicing spoilers
F Pagani et al.
NATURE REVIEWS GENETICS (2004)
Dynein structure and power stroke
SA Burgess et al.
NATURE (2003)
Identification of dynein heavy chain 7 as an inner arm component of human cilia that is synthesized but not assembled in a case of primary ciliary dyskinesia
YJ Zhang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus
I Ibañez-Tallon et al.
HUMAN MOLECULAR GENETICS (2002)
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right and asymmetry
H Olbrich et al.
NATURE GENETICS (2002)
A new mathematical model for relative quantification in real-time RT-PCR
MW Pfaffl
NUCLEIC ACIDS RESEARCH (2001)
Model for the motor component of dynein heavy chain based on homology to the AAA family of oligomeric ATPases
G Mocz et al.
STRUCTURE (2001)
Functional elements within the dynein microtubule-binding domain
MP Koonce et al.
MOLECULAR BIOLOGY OF THE CELL (2000)