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PLoS ONE, ISSN 1932-6203, 03/2013, Volume 8, Issue 3, p. e59436
Despite recent progress in defining the ciliome, the genetic basis for many cases of primary ciliary dyskinesia (PCD) remains elusive. We evaluated five... 
SITUS-INVERSUS | CELLS | PROTEIN | GENE | MULTIDISCIPLINARY SCIENCES | LEUCINE-RICH REPEAT | OF-FUNCTION MUTATIONS | KARTAGENER-SYNDROME | PROTEOMIC ANALYSIS | BEAT FREQUENCY | IDENTIFICATION | Oligonucleotides - genetics | Chromosomes, Human, Pair 8 - genetics | RNA, Small Interfering - genetics | Humans | Molecular Sequence Data | Male | Microscopy, Video | Kartagener Syndrome - genetics | Base Sequence | HEK293 Cells | Adult | Female | Nasal Mucosa - metabolism | Gene Expression Regulation, Developmental - physiology | Genetic Linkage | Dyneins - metabolism | Amino Acid Sequence | Gene Silencing | Microscopy, Electron | Reverse Transcriptase Polymerase Chain Reaction | Genes, Recessive | Sequence Analysis, DNA | Proteins - genetics | Analysis of Variance | Pedigree | Kartagener Syndrome - pathology | Adolescent | Nasal Mucosa - cytology | Arabs - genetics | Dyneins - genetics | Proteins | Analysis | Nitric oxide | Dynein | Genetic research | Aspartate | Genetic aspects | Movement disorders | Pediatrics | Motility | Transplants & implants | Epithelial cells | Trafficking | Amino acids | Leucine | Defects | Respiratory tract | Histidine | Primary ciliary dyskinesia | Genetics | Aspartic acid | Children | Dyskinesia | Cilia | Cilia beat frequency | Zebrafish | Medicine | Acids | Insects | Chromosome 8 | Mutation | Cytoplasm
Journal Article
AMERICAN JOURNAL OF HUMAN GENETICS, ISSN 0002-9297, 01/2017, Volume 100, Issue 1, pp. 160 - 168
Defects in motile cilia and sperm flagella cause primary ciliary dyskinesia (PCD), characterized by chronic airway disease, infertility, and left-right body... 
BODY ASYMMETRY | RANDOMIZATION | SCREEN | DOCKING | DISEASE | COMPLEXES | GENETICS & HEREDITY | RESPIRATORY CILIA | OF-FUNCTION MUTATIONS | AXONEMAL DYNEIN | DYSFUNCTION
Journal Article
European Respiratory Journal, ISSN 0903-1936, 12/2014, Volume 44, Issue 6, pp. 1579 - 1588
Primary ciliary dyskinesia (PCD) is a rare genetic disorder leading to recurrent respiratory tract infections. High-speed video-microscopy analysis (HVMA) of... 
BODY ASYMMETRY | RANDOMIZATION | ABNORMALITIES | RESPIRATORY SYSTEM | ULTRASTRUCTURE | FUNCTIONAL-ANALYSIS | DYNEIN ARM DEFECTS | OUTER | MUTATIONS | REGULATORY COMPLEX | CHILDREN | Cilia - physiology | Genetic Variation | Homozygote | Phenotype | Gene Frequency | Humans | Kartagener Syndrome - physiopathology | Genotype | Heterozygote | Microscopy, Video | Kartagener Syndrome - genetics | Mutation
Journal Article
Biology of Reproduction, ISSN 0006-3363, 10/2011, Volume 85, Issue 4, pp. 690 - 701
Journal Article
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 02/2018, Volume 115, Issue 6, pp. E1221 - E1228
Motile cilia are characterized by dynein motor units, which preassemble in the cytoplasm before trafficking into the cilia. Proteins required for dynein... 
Ciliopathy | Genetics | Preassembly | Primary ciliary dyskinesia | Cilia | FLAGELLAR MOTILITY | REPEAT | MULTIDISCIPLINARY SCIENCES | DYSKINESIA | preassembly | OF-FUNCTION MUTATIONS | ciliopathy | genetics | EPITHELIAL-CELLS | INTERACTS | DYNEIN ARM DEFECTS | cilia | OUTER | AXONEMAL DYNEIN | primary ciliary dyskinesia | INNER | Physiological aspects | Cilia and ciliary motion | Biological Sciences | PNAS Plus
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