2021
Genetic variants are identified to increase risk of COVID-19 related mortality from UK Biobank data
Hu J, Li C, Wang S, Li T, Zhang H. Genetic variants are identified to increase risk of COVID-19 related mortality from UK Biobank data. Human Genomics 2021, 15: 10. PMID: 33536081, PMCID: PMC7856608, DOI: 10.1186/s40246-021-00306-7.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesGenetic variantsPower of GWASTraditional genome-wide association studiesTraits of interestMulti-locus interactionsHuman bronchial epithelial cellsSignificant genetic variantsDownregulated genesChromosome 2Genetic basisGenetic factorsAssociation studiesBronchial epithelial cellsCilia dysfunctionSusceptibility lociMitochondrial dysfunctionGenome-wide significant genetic variantsEpithelial cellsGenesMolecular pathogenesisHost genetic factorsUK Biobank dataUK BiobankVariants
2020
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes
Marquez J, Mann N, Arana K, Deniz E, Ji W, Konstantino M, Mis EK, Deshpande C, Jeffries L, McGlynn J, Hugo H, Widmeier E, Konrad M, Tasic V, Morotti R, Baptista J, Ellard S, Lakhani SA, Hildebrandt F, Khokha MK. DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes. Journal Of Medical Genetics 2020, 58: 453-464. PMID: 32631816, PMCID: PMC7785698, DOI: 10.1136/jmedgenet-2019-106805.Peer-Reviewed Original ResearchConceptsLoss of ciliaPatient tissuesPatient variantsCongenital heart diseaseMultiple organ systemsMultiple congenital anomaliesDLG5 variantsVariety of pathologiesNephrotic syndromeHeart diseaseCongenital anomaliesRespiratory tractKidney tissueOrgan systemsCystic kidneysPatient phenotypesKidneyDiseaseLimb abnormalitiesUnrelated familiesRescue experimentsCraniofacial malformationsCilia dysfunctionTissue-specific manifestationsTissue
2014
Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia
Lin J, Yin W, Smith MC, Song K, Leigh MW, Zariwala MA, Knowles MR, Ostrowski LE, Nicastro D. Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia. Nature Communications 2014, 5: 5727. PMID: 25473808, PMCID: PMC4267722, DOI: 10.1038/ncomms6727.Peer-Reviewed Original ResearchConceptsCryo-electron tomographyNative 3D structureNormal human developmentDistant speciesHuman ciliaCilia structurePCD phenotypeCilia dysfunctionHuman diseasesNative structurePrimary ciliary dyskinesiaRadial spokesCiliaEssential roleFunctional heterogeneityHuman respiratory ciliaUnprecedented detailPrimary defectCiliary dyskinesiaUnknown primary defect
2013
Mutations in CSPP1 Lead to Classical Joubert Syndrome
Akizu N, Silhavy JL, Rosti RO, Scott E, Fenstermaker AG, Schroth J, Zaki MS, Sanchez H, Gupta N, Kabra M, Kara M, Ben-Omran T, Rosti B, Guemez-Gamboa A, Spencer E, Pan R, Cai N, Abdellateef M, Gabriel S, Halbritter J, Hildebrandt F, van Bokhoven H, Gunel M, Gleeson JG. Mutations in CSPP1 Lead to Classical Joubert Syndrome. American Journal Of Human Genetics 2013, 94: 80-86. PMID: 24360807, PMCID: PMC3882909, DOI: 10.1016/j.ajhg.2013.11.015.Peer-Reviewed Original ResearchConceptsJoubert syndromeDistinctive mid-hindbrain malformationMid-hindbrain malformationPrimary cilia dysfunctionPrimary ciliaKidney diseaseLarge cohortVariable involvementRelated disordersHuman neurogenesisNeural tissueProtein levelsAffected individualsSyndromeCilia dysfunctionCohortNeural-specific functionsCausative mutationsMutationsNull mutationCSPP1IndividualsCiliaDysfunctionJSRD
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