LRRC6 Mutation Causes Primary Ciliary Dyskinesia with Dynein Arm Defects - Horani, Amjad; Ferkol, Thomas W.; Shoseyov, David; Wasserman, Mollie G.; Oren, Yifat S.; Kerem, Batsheva; Amirav, Israel; Cohen-Cymberknoh, Malena; Dutcher, Susan K.; Brody, Steven L.; Elpeleg, Orly; Kerem, Eitan (PloS one, 2013)
Keywords: Acids; Adolescent; Adult; Amino Acid Sequence; Amino acids; Analysis; Analysis of Variance; Arabs - genetics; Aspartate; Aspartic acid; Autosomal recessive inheritance; Base Sequence; Biology; Children; Chromosome 8; Chromosomes, Human, Pair 8 - genetics; Cilia; Cilia beat frequency; Cytoplasm; Cytoskeletal Proteins; Defects; Dynein; Dyneins - genetics; Dyneins - metabolism; Dyskinesia; Epithelial cells; Female; Gene Expression Regulation, Developmental - physiology; Gene Silencing; Genes, Recessive; Genetic aspects; Genetic Linkage; Genetic research; Genetics; HEK293 Cells; Histidine; Humans; Insects; Kartagener Syndrome - genetics; Kartagener Syndrome - pathology; Leucine; Male; Medicine; Microscopy, Electron; Microscopy, Video; Molecular Sequence Data; Motility; Movement disorders; Mutation; Nasal Mucosa - cytology; Nasal Mucosa - metabolism; Nitric oxide; Oligonucleotides - genetics; Pediatrics; Pedigree; Primary ciliary dyskinesia; Proteins; Proteins - genetics; Respiratory tract; Reverse Transcriptase Polymerase Chain Reaction; RNA, Small Interfering - genetics; Sequence Analysis, DNA; Transplants & implants; Trypanosoma brucei; Zebrafish; Israel; Jerusalem Israel; United States--US; Missouri