Search Results - "Dougherty, Gerard W"
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Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex
Published in American journal of human genetics (01-10-2015)“…Multiciliated epithelial cells protect the upper and lower airways from chronic bacterial infections by moving mucus and debris outward. Congenital disorders…”
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Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system
Published in Molecular human reproduction (27-02-2021)“…Motile cilia line the efferent ducts of the mammalian male reproductive tract. Several recent mouse studies have demonstrated that a reduced generation of…”
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Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia
Published in The European respiratory journal (01-12-2014)“…Primary ciliary dyskinesia (PCD) is a rare genetic disorder leading to recurrent respiratory tract infections. High-speed video-microscopy analysis (HVMA) of…”
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SPEF2- and HYDIN -Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics
Published in American journal of respiratory cell and molecular biology (01-03-2020)“…Primary ciliary dyskinesia (PCD) is a genetically heterogeneous chronic destructive airway disease. PCD is traditionally diagnosed by nasal nitric oxide…”
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TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization
Published in American journal of human genetics (04-08-2016)“…Multiprotein complexes referred to as outer dynein arms (ODAs) develop the main mechanical force to generate the ciliary and flagellar beat. ODA defects are…”
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Ciliary function and motor protein composition of human fallopian tubes
Published in Human reproduction (Oxford) (01-12-2015)“…STUDY QUESTION What is the motor protein composition and function of human fallopian tube (FT) cilia? SUMMARY ANSWER Although the motor protein composition and…”
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Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility
Published in PLoS genetics (27-08-2018)“…The clinical spectrum of ciliopathies affecting motile cilia spans impaired mucociliary clearance in the respiratory system, laterality defects including heart…”
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ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry
Published in American journal of human genetics (08-08-2013)“…The motive forces for ciliary movement are generated by large multiprotein complexes referred to as outer dynein arms (ODAs), which are preassembled in the…”
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Comparison of Nocturnal Cough Analysis in Healthy Subjects and in Patients with Cystic Fibrosis and Primary Ciliary Dyskinesia: A Prospective Observational Study
Published in Respiration (01-01-2019)“…Cough is a key symptom in patients with cystic fibrosis (CF) and primary ciliary dyskinesia (PCD). The study objectives were to test whether cough is related…”
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Myosin IIIa boosts elongation of stereocilia by transporting espin 1 to the plus ends of actin filaments
Published in Nature cell biology (01-04-2009)“…Two proteins implicated in inherited deafness, myosin IIIa, a plus-end-directed motor, and espin, an actin-bundling protein containing the…”
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De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry
Published in American journal of human genetics (07-11-2019)“…Hydrocephalus is one of the most prevalent form of developmental central nervous system (CNS) malformations. Cerebrospinal fluid (CSF) flow depends on both…”
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Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects
Published in American journal of human genetics (05-01-2017)“…Defects in motile cilia and sperm flagella cause primary ciliary dyskinesia (PCD), characterized by chronic airway disease, infertility, and left-right body…”
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Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways
Published in Developmental cell (18-12-2017)“…Cilia are organelles specialized for movement and signaling. To infer when during evolution signaling pathways became associated with cilia, we characterized…”
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MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia
Published in Nature communications (22-07-2014)“…Reduced generation of multiple motile cilia (RGMC) is a rare mucociliary clearance disorder. Affected persons suffer from recurrent infections of upper and…”
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Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect
Published in Human mutation (01-08-2017)“…Primary ciliary dyskinesia (PCD) is a genetic condition of impaired ciliary beating, characterized by chronic infections of the upper and lower airways and…”
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Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia
Published in Nature genetics (01-06-2014)“…Heymut Omran and colleagues show that biallelic mutations in CCNO cause a chronic destructive lung disease resulting from loss of multiple motile cilia from…”
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Mutations in TP73 cause impaired mucociliary clearance and lissencephaly
Published in American journal of human genetics (01-07-2021)“…TP73 belongs to the TP53 family of transcription factors and has therefore been well studied in cancer research. Studies in mice, however, have revealed…”
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Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure
Published in American journal of respiratory cell and molecular biology (01-09-2022)Get full text
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Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms
Published in American journal of human genetics (03-05-2018)“…Primary ciliary dyskinesia (PCD) is characterized by chronic airway disease, male infertility, and randomization of the left/right body axis as a result of…”
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DYX1C1 is required for axonemal dynein assembly and ciliary motility
Published in Nature genetics (01-09-2013)“…Heymut Omran, Joseph LoTurco and colleagues show that mutations in the dyslexia susceptibility candidate gene DYX1C1 cause primary ciliary dyskinesia. Their…”
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