2022
X chromosome inactivation in the human placenta is patchy and distinct from adult tissues
Phung TN, Olney KC, Pinto BJ, Silasi M, Perley L, O’Bryan J, Kliman HJ, Wilson MA. X chromosome inactivation in the human placenta is patchy and distinct from adult tissues. Human Genetics And Genomics Advances 2022, 3: 100121. PMID: 35712697, PMCID: PMC9194956, DOI: 10.1016/j.xhgg.2022.100121.Peer-Reviewed Original ResearchX-chromosome inactivationAdult tissuesChromosome inactivationX chromosomeX chromosome expressionTissue-specific mapsPaternal X chromosomeHuman adult tissuesChromosome expressionX inactivationAllele-specific approachesGenetic femalesLarge patchesChromosomesHuman placentaInactivationTissueGenesRNADNAObserved sex differencesExpressionPlacenta
2018
hCALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia
Mackie DI, Mutairi F, Davis RB, Kechele DO, Nielsen NR, Snyder JC, Caron MG, Kliman HJ, Berg JS, Simms J, Poyner DR, Caron KM. hCALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia. Journal Of Experimental Medicine 2018, 215: 2339-2353. PMID: 30115739, PMCID: PMC6122977, DOI: 10.1084/jem.20180528.Peer-Reviewed Original ResearchConceptsStructure-function insightsG protein-coupled receptorsNovel candidate genesFirst extracellular loopProtein-coupled receptorsReceptor activity modifying proteinMutant resultsPlasma membraneCandidate genesGenetic mouse modelsExtracellular loopFrame deletionBiochemical assaysGenetic ablationReceptor chaperoneLymphatic endothelialModifying proteinsCalcitonin receptor-like receptorHuman physiologyEmbryonic demiseChaperonesMouse modelLymphatic dysplasiaReceptorsGenes