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Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetryExome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signalingMutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile ciliaNephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulinMislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesiaMutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutationNephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting ciliaMutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructurePrimary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutationsMCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile ciliaCCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formationAxonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesiaCongenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesiaMutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein armsMutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetryDNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein armMutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosisDYX1C1 is required for axonemal dynein assembly and ciliary motilityZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogsThe nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formationHigh prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy.Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasiaDNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defectsMutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism.Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory ComplexMutations in antiquitin in individuals with pyridoxine-dependent seizuresDominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathiesIdentification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patientsMutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm DefectsThe von Hippel-Lindau tumor suppressor protein controls ciliogenesis by orienting microtubule growth.Initiation and maturation of cilia-generated flow in newborn and postnatal mouse airway.DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm ComplexesCollecting clinical data in primary ciliary dyskinesia- challenges and opportunities.
P50
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P50
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Heymut Omran
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P214
P106
P21
P214
P31
P7859
viaf-57325479