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
2006
E‐cadherin promoter polymorphism (C‐160A) and risk of recurrence in patients with superficial bladder cancer
Lin J, Dinney C, Grossman H, Jhamb M, Zhu Y, Spitz, Wu X. E‐cadherin promoter polymorphism (C‐160A) and risk of recurrence in patients with superficial bladder cancer. Clinical Genetics 2006, 70: 240-245. PMID: 16922727, DOI: 10.1111/j.1399-0004.2006.00666.x.Peer-Reviewed Original ResearchConceptsSuperficial bladder cancerBladder cancer recurrenceBladder cancerCancer recurrencePromoter polymorphismHazard ratioCaucasian patientsMedian recurrence-free survivalMedical chart reviewRecurrence-free survivalRisk of recurrencePeripheral blood lymphocytesProportional hazards modelHomozygous CC genotypeChart reviewDisease recurrenceSmoking statusTumor recurrenceTumor stageBlood lymphocytesClinical dataCC genotypeHazards modelPatientsRecurrence risk