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American journal of human genetics, ISSN 0002-9297, 2014, Volume 94, Issue 1, pp. 95 - 104
Journal Article
Proceedings of the National Academy of Sciences - PNAS, ISSN 1091-6490, 2011, Volume 108, Issue 7, pp. 2915 - 2920
Journal Article
Journal Article
Nature genetics, ISSN 1061-4036, 03/2013, Volume 45, Issue 3, pp. 262 - 268
Primary ciliary dyskinesia (PCD) is characterized by dysfunction of respiratory cilia and sperm flagella and random determination of visceral asymmetry. Here,... 
ASYMMETRY | DEFECTS | MUTANTS | DYSKINESIA | GENETICS & HEREDITY | ARMS | RADIAL SPOKES | MUTATIONS | CHLAMYDOMONAS-FLAGELLA | IDENTIFICATION | INNER | Axoneme - metabolism | Microtubule-Associated Proteins - genetics | Axonemal Dyneins - metabolism | Microtubule-Associated Proteins - metabolism | Humans | Axonemal Dyneins - genetics | Molecular Sequence Data | Male | Kartagener Syndrome - genetics | Chlamydomonas - metabolism | Axoneme - genetics | Chlamydomonas - ultrastructure | Sperm Tail - metabolism | Axonemal Dyneins - ultrastructure | Plasminogen Activator Inhibitor 1 - metabolism | Axoneme - ultrastructure | Chlamydomonas - genetics | Algal Proteins - genetics | Cilia - ultrastructure | Plasminogen Activator Inhibitor 1 - genetics | Amino Acid Sequence | Cytoskeleton - genetics | Kartagener Syndrome - physiopathology | Cilia - metabolism | Cilia - genetics | Carrier Proteins - genetics | Ciliary Motility Disorders - pathology | Sperm Tail - ultrastructure | Cytoskeleton - metabolism | Kartagener Syndrome - metabolism | Mutation | Ciliary Motility Disorders - genetics | Genetic disorders | Gene mutations | Dynein | Physiological aspects | Genetic aspects | Research | Health aspects | Genetic screening | Motility | Genes | Algae | Cloning | Colleges & universities | Genomes | Molecular weight | Defects | Proteins | Databases | Microscopy | Proteomics | Mass spectrometry | Clinical Medicine | Oto-rhino-laryngologi | Medical and Health Sciences | Medicin och hälsovetenskap | Otorhinolaryngology | Klinisk medicin | Cancer and Oncology | Cancer och onkologi
Journal Article
PLoS genetics, ISSN 1553-7404, 2017, Volume 13, Issue 7, p. e1006936
...), a syndrome caused by defects in cilia transport and function, as well as McKusick-Kaufman syndrome, a genetic disorder characterized by congenital heart defects... 
ZEBRAFISH EMBRYOS | KUPFFERS VESICLE | MCKUSICK-KAUFMAN-SYNDROME | SWI/SNF COMPLEX | PORE COMPLEX | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | SYNDROME GENES | MUTATIONS | BETA-CATENIN | MOUSE EMBRYO | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Uterine Diseases - metabolism | Bardet-Biedl Syndrome - metabolism | Humans | Uterine Diseases - pathology | Chromatin Assembly and Disassembly - genetics | Cytoplasm - metabolism | Polydactyly - metabolism | Group II Chaperonins - genetics | Heart Defects, Congenital - genetics | Hydrocolpos - genetics | Bardet-Biedl Syndrome - pathology | Bardet-Biedl Syndrome - genetics | Hydrocolpos - pathology | Active Transport, Cell Nucleus - genetics | Abnormalities, Multiple - genetics | Disease Models, Animal | Cilia - pathology | Polydactyly - genetics | Heart Defects, Congenital - pathology | Hydrocolpos - metabolism | Transcription Factors - biosynthesis | Transcription Factors - genetics | Cilia - metabolism | Protein Transport - genetics | Zebrafish - genetics | Animals | Animals, Genetically Modified - genetics | Uterine Diseases - genetics | Heart Defects, Congenital - metabolism | Mice | Mutation | Chromatin - genetics | Polydactyly - pathology | Chromatin | Bardet-Biedl syndrome | Genetic aspects | Gene mutations | Health aspects | Heart | Pediatrics | Profiling | Transcription | Funding | Retinitis pigmentosa | Disorders | Transgenic | Cardiovascular disease | Biology | Remodeling | Nuclei | Defects | Proteins | Localization | Heart diseases | Cilia | Genetic disorders | Congenital diseases | Zebrafish | Roles | Gene expression | Patients | Coronary artery disease | Chromatin remodeling | Medicine | Alleles | McKusick-Kaufman syndrome | Genetic engineering | Retinitis | Transport | Cytoplasm
Journal Article
PLoS genetics, ISSN 1553-7404, 2016, Volume 12, Issue 12, p. e1006469
Journal Article
PLoS genetics, ISSN 1553-7404, 2013, Volume 9, Issue 12, p. e1003977
Cilia are microtubule-based cell appendages, serving motility, chemo-/mechano-/photo- sensation, and developmental signaling functions. Cilia are comprised of... 
COMPLEX | CAENORHABDITIS-ELEGANS | TRANSITION ZONE | ARL13B | SIGNALING PROTEINS | GENETICS & HEREDITY | TRAFFICKING | C-ELEGANS | CILIOGENESIS | SENSORY CILIA | INTRAFLAGELLAR TRANSPORT | Polycystic Kidney Diseases - genetics | Cytoskeletal Proteins - genetics | Humans | Biological Transport, Active - genetics | Cerebellum - abnormalities | Membranes - metabolism | Polycystic Kidney Diseases - pathology | Retinitis Pigmentosa | Cerebellar Diseases - pathology | Bardet-Biedl Syndrome - pathology | Kidney Diseases, Cystic - genetics | Bardet-Biedl Syndrome - genetics | Cytoskeletal Proteins - metabolism | ADP-Ribosylation Factors - metabolism | ADP-Ribosylation Factors - genetics | Encephalocele - genetics | Caenorhabditis elegans - metabolism | Caenorhabditis elegans - genetics | Abnormalities, Multiple | Transcription Factors - genetics | Eye Abnormalities - genetics | Cilia - metabolism | Cilia - genetics | Kidney Diseases, Cystic - pathology | Transcription Factors - metabolism | Animals | Cerebellar Diseases - genetics | Ciliary Motility Disorders - pathology | Encephalocele - pathology | Eye Abnormalities - pathology | Retina - abnormalities | Retina - pathology | Ciliary Motility Disorders - genetics | Cilia and ciliary motion | Biological transport, Active | Joubert syndrome | Physiological aspects | Genetic research | Genetic aspects | Research | Health aspects | Proteins | Studies | Genotype & phenotype | Membranes | Motility | Peptides | Proteomics | Diffusion | Experiments
Journal Article
American journal of human genetics, ISSN 0002-9297, 2013, Volume 93, Issue 4, pp. 672 - 686
Journal Article