2018
Detection of heterozygous mutation in hook microtubule-tethering protein 1 in three patients with decapitated and decaudated spermatozoa syndrome
Chen H, Zhu Y, Zhu Z, Zhi E, Lu K, Wang X, Liu F, Li Z, Xia W. Detection of heterozygous mutation in hook microtubule-tethering protein 1 in three patients with decapitated and decaudated spermatozoa syndrome. Journal Of Medical Genetics 2018, 55: 150. PMID: 29330334, DOI: 10.1136/jmedgenet-2016-104404.Peer-Reviewed Original ResearchConceptsAssisted reproduction treatmentFertilization rateClinical studiesReproduction treatmentWhole genomic DNAPatientsTeratozoospermia patientsControl individualsNovel missense mutationAbnormal junctionProtein 1 geneHeterozygous mutationsIntramanchette transportUnreported mutationsHeadless tailsGenetic cuesPopulation-matched control individualsReduced fertilization ratesGenomic therapyMorphological observationsProtein 1Genomic DNADysfunctional proteinsFurther studiesMolecular mechanisms
2014
Epigenome-wide analysis of piRNAs in gene-specific DNA methylation
Fu A, Jacobs D, Zhu Y. Epigenome-wide analysis of piRNAs in gene-specific DNA methylation. RNA Biology 2014, 11: 1301-1312. PMID: 25590657, PMCID: PMC4615395, DOI: 10.1080/15476286.2014.996091.Peer-Reviewed Original ResearchConceptsPIWI-interacting RNAsGene-specific DNA methylationDNA methylationGenic lociTransposable elementsCpG sitesSilencing of transposable elementsGenome-wide methylation profilingDifferentially methylated CpG sitesGenome-wide effortsTarget CpG sitesInduce DNA methylationTransposon classesEpigenome-wide analysisIntergenic regionGenomic regionsNascent mRNAHuman genomeMethylation changesGenomic DNAMethylation profilesHuman somatic cellsUnique speciesGenome copiesSomatic cells