2024
Müllerian anomalies and endometriosis: associations and phenotypic variations
Bhamidipaty-Pelosi S, Kyei-Barffour I, Volpert M, O’Neill N, Grimshaw A, Eriksson L, Vash-Margita A, Pelosi E. Müllerian anomalies and endometriosis: associations and phenotypic variations. Reproductive Biology And Endocrinology 2024, 22: 157. PMID: 39702195, PMCID: PMC11656925, DOI: 10.1186/s12958-024-01336-1.Peer-Reviewed Original ResearchMeSH KeywordsEndometriosisFemaleHumansInfertility, FemaleMullerian DuctsPhenotypePregnancyUrogenital AbnormalitiesConceptsMullerian anomaliesObstructive Mullerian anomaliesAdverse pregnancy outcomesDevelopment of endometriosisAbsence of obstructionFemale reproductive tractHeterogeneity of phenotypesPregnancy outcomesRetrograde menstruationSurgical correctionCongenital conditionEndometriosisAnatomical variationsHigh riskReproductive tractCardiovascular systemVariable comorbiditiesClinical researchIncomplete developmentLack of genetic informationMalformationsComorbiditiesObstructionInfertilityMenstruation
2023
Surgical Correction of Vaginal Agenesis via Modified Laparoscopic Vecchietti Procedure
Esencan E, St Martin B, Harmanli O, Vash-Margita A. Surgical Correction of Vaginal Agenesis via Modified Laparoscopic Vecchietti Procedure. Journal Of Pediatric And Adolescent Gynecology 2023, 36: 556-559. PMID: 37354985, DOI: 10.1016/j.jpag.2023.06.004.Peer-Reviewed Original ResearchConceptsLaparoscopic Vecchietti procedureVecchietti procedureVaginal dilationVaginal agenesisSurgical correctionRudimentary uterine hornExtensive counselingMayer-RokitanskyNormal ovariesSuture adjustmentPrimary amenorrheaSecondary sex characteristicsUterine hornVaginal canalAgenesisSex characteristicsType IDilationUnsuccessful attemptsAmenorrheaNeovaginaPatientsVaginoplastyMucosaGraft
2022
Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer–Rokitansky–Küster–Hauser syndrome
Thomson E, Tran M, Robevska G, Ayers K, van der Bergen J, Bhaskaran PG, Haan E, Cereghini S, Vash-Margita A, Margetts M, Hensley A, Nguyen Q, Sinclair A, Koopman P, Pelosi E. Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer–Rokitansky–Küster–Hauser syndrome. Human Molecular Genetics 2022, 32: 1032-1047. PMID: 36282544, PMCID: PMC9990990, DOI: 10.1093/hmg/ddac262.Peer-Reviewed Original ResearchConceptsSingle-cell RNA sequencingKüster-Hauser syndromeMRKH syndromeType II phenotypeRNA sequencingGenetic basisCandidate genesPathways downstreamMicroarray analysisMolecular mechanismsMayer-RokitanskyFirst mouse modelReproductive healthChromosomal changesCell proliferationHypoplastic developmentLhx1HNF1BWomen's reproductive healthGenetic settingExtragenital anomaliesIdentifies lossClinical genetics settingPhenotypeType II
2021
The Embryological Landscape of Mayer-Rokitansky-Kuster-Hauser Syndrome: Genetics and Environmental Factors.
Kyei-Barffour I, Margetts M, Vash-Margita A, Pelosi E. The Embryological Landscape of Mayer-Rokitansky-Kuster-Hauser Syndrome: Genetics and Environmental Factors. The Yale Journal Of Biology And Medicine 2021, 94: 657-672. PMID: 34970104, PMCID: PMC8686787.Peer-Reviewed Original ResearchMeSH Keywords46, XX Disorders of Sex DevelopmentAnimalsCongenital AbnormalitiesFemaleHumansMullerian DuctsPhenotypeVaginaConceptsMRKH syndromeClinical presentationMayer-RokitanskyEmbryonic developmentEnvironmental factorsEpigenetic changesFunctional validationCandidate genesGenetic analysisMolecular mechanismsDevelopmental pathwaysKüster-Hauser syndromeEarly organogenesisKuster-Hauser syndromeKey pathwaysGenetic componentInheritance patternEnvironmental compoundsIncomplete penetranceClinical managementDiscordant phenotypesEarly diagnosisAnimal modelsGeneticsTranslational studiesMolecular mechanisms of estrogen action in female genital tract development
Alderman MH, Taylor HS. Molecular mechanisms of estrogen action in female genital tract development. Differentiation 2021, 118: 34-40. PMID: 33707128, PMCID: PMC8073215, DOI: 10.1016/j.diff.2021.01.002.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsGene expressionSelective estrogen receptor modulatorsFemale genital tract developmentAberrant CpG methylationGenital tract developmentHistone modificationsEpigenetic regulationOrgan developmentCpG methylationTranscriptional pathwaysSpecific fetalEpigenetic modulationMolecular mechanismsFemale reproductive tractLate organogenesisHormonal regulationOrganogenesisEstrogen receptor modulatorsTract developmentReproductive tractIndependent fashionRegulationDisease statesEstrogen actionReceptor modulatorsGenetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer–Rokitansky–Küster–Hauser Syndrome
Mikhael S, Dugar S, Morton M, Chorich LP, Tam KB, Lossie AC, Kim HG, Knight J, Taylor HS, Mukherjee S, Capra JA, Phillips JA, Friez M, Layman LC. Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer–Rokitansky–Küster–Hauser Syndrome. Human Genetics 2021, 140: 667-680. PMID: 33469725, PMCID: PMC9211441, DOI: 10.1007/s00439-020-02239-y.Peer-Reviewed Original ResearchConceptsKüster-Hauser syndromeMouse modelHuman studiesCandidate variantsAgenesis/hypoplasiaMethodsWhole-exome sequencingMayer-RokitanskyCandidate genesCongenital absenceExome sequencingAuditory defectsSanger sequencingPatientsRare variantsSyndromeUterusMRKHVaginaFurther investigationDigenic combinationsPhysiological candidatesGenetic basisSame geneVariant analysisGenes
2015
The Role of Hox Genes in Female Reproductive Tract Development, Adult Function, and Fertility
Du H, Taylor HS. The Role of Hox Genes in Female Reproductive Tract Development, Adult Function, and Fertility. Cold Spring Harbor Perspectives In Medicine 2015, 6: a023002. PMID: 26552702, PMCID: PMC4691806, DOI: 10.1101/cshperspect.a023002.Peer-Reviewed Original ResearchConceptsReproductive tract developmentEndometrial developmentTract developmentPolycystic ovarian syndromeFemale reproductive tract developmentFemale reproductive trackOvarian syndromeEndometrial receptivityImplantation rateFemale infertilityGene expressionMüllerian defectsHOXA11 expressionGene mutationsReproductive trackAdult functionDevelopmental abnormalitiesHOXA10AbnormalitiesEndocrine disruptorsDiethylstilbestrolImplantationEssential regulatorExpressionThe role of EMX2 in uterine development
Taylor HS. The role of EMX2 in uterine development. Fertility And Sterility 2015, 103: 633-634. PMID: 25637477, DOI: 10.1016/j.fertnstert.2015.01.009.Peer-Reviewed Original Research
2009
WT1 represses HOX gene expression in the regulation of gynaecologic tumour histologic type
Andikyan V, Taylor HS. WT1 represses HOX gene expression in the regulation of gynaecologic tumour histologic type. Journal Of Cellular And Molecular Medicine 2009, 13: 4522-4531. PMID: 19017365, PMCID: PMC3107857, DOI: 10.1111/j.1582-4934.2008.00574.x.Peer-Reviewed Original ResearchMeSH KeywordsCell Line, TumorEndometrial NeoplasmsEndometriumEnhancer Elements, GeneticFemaleGene Expression ProfilingGene Expression Regulation, NeoplasticGenital Neoplasms, FemaleHomeobox A10 ProteinsHomeodomain ProteinsHumansKidneyMullerian DuctsOvarian NeoplasmsPromoter Regions, GeneticProtein BindingRepressor ProteinsUterine Cervical NeoplasmsWT1 ProteinsConceptsHox gene expressionGene expressionHomeobox gene HOXA10HOXA10 expressionEpithelial cell typesHox genesTumor 1 geneRepressor activityHomeobox genesEpithelial enhancersTranscription factorsEmbryonic developmentRegulatory elementsExpression of WT1Enhancer activitySelective repressionRepressor elementAberrant regulationDevelopmental identityOvarian cancer cellsUterine organogenesisCell typesGenesRepressorCancer cellsA novel mutation of HOXA13 in a family with hand-foot-genital syndrome and the role of polyalanine expansions in the spectrum of Müllerian fusion anomalies
Jorgensen EM, Ruman JI, Doherty L, Taylor HS. A novel mutation of HOXA13 in a family with hand-foot-genital syndrome and the role of polyalanine expansions in the spectrum of Müllerian fusion anomalies. Fertility And Sterility 2009, 94: 1235-1238. PMID: 19591980, PMCID: PMC2889242, DOI: 10.1016/j.fertnstert.2009.05.057.Peer-Reviewed Original ResearchConceptsGenital syndromeMüllerian fusion anomaliesCase-control studyAcademic medical centerNovel mutationsFoot symptomsFusion anomaliesAbsence of mutationsMedical CenterMAIN OUTCOMENormal controlsBiopsy samplesPatientsDistal limbSeptumSyndromeHFGSFamily membersHOXA13MutationsPolyalanine tractPolyalanine expansionsSequelaeRoentgenogramsSymptoms
2006
Hernia Uterus Inguinale
Turaga K, St. Peter S, Calkins C, Holcomb G, Ostlie D, Snyder C. Hernia Uterus Inguinale. Surgical Laparoscopy Endoscopy & Percutaneous Techniques 2006, 16: 366-367. PMID: 17057585, DOI: 10.1097/01.sle.0000213722.49838.44.Peer-Reviewed Original ResearchMeSH KeywordsAlgorithmsDisorders of Sex DevelopmentFemaleHernia, InguinalHumansInfantLaparoscopyMaleMullerian DuctsUterusAnatomic Factors in Recurrent Pregnancy Loss
Wold A, Pham N, Arici A. Anatomic Factors in Recurrent Pregnancy Loss. Seminars In Reproductive Medicine 2006, 24: 025-032. PMID: 16418975, DOI: 10.1055/s-2006-931798.Peer-Reviewed Original ResearchMeSH KeywordsAbortion, HabitualDiethylstilbestrolFemaleHumansMullerian DuctsPregnancyUltrasonographyUterine Cervical IncompetenceUterusConceptsRecurrent pregnancy lossPregnancy lossPoor reproductive outcomesConsecutive spontaneous abortionsPreterm laborUterine anomaliesUterine defectUterine malformationsUterine septumIntrauterine adhesionsAbnormal presentationAnatomic abnormalitiesTreatment optionsAnatomic factorsSpontaneous abortionSurgical correctionReproductive outcomesAdequate treatmentCommon congenitalAccurate diagnosisContemporary diagnosisReproductive difficultiesDiagnosisWomenFibroids
2004
Molecular Regulation of Müllerian Development by Hox Genes
DU H, TAYLOR HS. Molecular Regulation of Müllerian Development by Hox Genes. Annals Of The New York Academy Of Sciences 2004, 1034: 152-165. PMID: 15731308, DOI: 10.1196/annals.1335.018.Peer-Reviewed Original ResearchConceptsHox genesMolecular regulationCommon genetic systemConserved transcription factorHox gene expressionAspects of morphogenesisNormal embryonic developmentEmbryonic patterningGenetic systemTranscription factorsEmbryonic developmentDevelopmental processesGene expressionRegulatory moleculesCell differentiationGenesReproductive tract developmentAdult functionHOXA10 geneTract developmentEmbryonic periodReproductive tractRegulationMullerian tractMetazoans
2000
In utero diethylstilbestrol (DES) exposure alters Hox gene expression in the developing mullerian system
Block K, Kardana A, Igarashi P, Taylor H. In utero diethylstilbestrol (DES) exposure alters Hox gene expression in the developing mullerian system. The FASEB Journal 2000, 14: 1101-1108. PMID: 10834931, DOI: 10.1096/fasebj.14.9.1101.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBody PatterningCell LineCycloheximideDiethylstilbestrolEstradiolFemaleGene Expression Regulation, DevelopmentalGenes, HomeoboxGenitalia, FemaleHomeodomain ProteinsHumansIn Situ HybridizationLitter SizeMaleMiceMullerian DuctsOvaryPregnancyPrenatal Exposure Delayed EffectsRNA, MessengerTeratogensUterusVaginaConceptsHox gene expressionHox genesGene expressionExpression patternsPosterior Hox genesAnterior Hox genesReproductive tractAnterior transformationAcid regulationMolecular mechanismsReproductive tract developmentGenesHOXA10 gene expressionTract developmentExpressionCell culturesMullerian systemPregnant womenAnatomic abnormalitiesFemale offspringDrug usePosterior shiftPotential markerLater stagesMorphogensImplantation in the Human: The Role of HOX Genes
Daftary G, Taylor H. Implantation in the Human: The Role of HOX Genes. Seminars In Reproductive Medicine 2000, 18: 311-320. PMID: 11299969, DOI: 10.1055/s-2000-12568.Peer-Reviewed Original ResearchConceptsHox genesHox gene expressionPattern of expressionTranscription factorsEssential regulatorGene expressionMolecular markersProper developmentPeri-implantation windowGenesTargeted disruptionEmbryonic periodReproductive tractPotential mechanismsExpressionRecent evidenceAdult uterusRegulatorHOXA11RoleUterine receptivityRegulationHOXA10MoleculesHumans
1997
A Conserved Hox Axis in the Mouse and Human Female Reproductive System: Late Establishment and Persistent Adult Expression of the Hoxa Cluster Genes
Taylor H, Heuvel G, Igarashi P. A Conserved Hox Axis in the Mouse and Human Female Reproductive System: Late Establishment and Persistent Adult Expression of the Hoxa Cluster Genes. Biology Of Reproduction 1997, 57: 1338-1345. PMID: 9408238, DOI: 10.1095/biolreprod57.6.1338.Peer-Reviewed Original ResearchConceptsHox genesHoxa-9Hoxa-13Hoxa-11Mammalian female reproductive systemFemale reproductive systemHOXA cluster genesTiming of geneHuman female reproductive systemReproductive systemTemporal colinearitySpatial colinearityCluster genesLate establishmentDevelopmental plasticityExpression patternsMolecular mechanismsParamesonephric ductsHOXA-10GenesAdult expressionEmbryonic miceColinearityPersistent expressionMüllerian tract
1984
Genetics studies in incomplete müllerian fusion.
Elias S, Simpson J, Carson S, Malinak L, Buttram V. Genetics studies in incomplete müllerian fusion. Obstetrics And Gynecology 1984, 63: 276-9. PMID: 6700848.Peer-Reviewed Original Research
1983
Heritable aspects of uterine anomalies. II. Genetic analysis of Müllerian aplasia**Supported in part by grants from the March of Dimes Birth Defects Foundation and by NIH grants HD 11021 and HD 02841.
Carson S, Simpson J, Malinak L, Elias S, Gerbie A, Buttram V, Sarto G. Heritable aspects of uterine anomalies. II. Genetic analysis of Müllerian aplasia**Supported in part by grants from the March of Dimes Birth Defects Foundation and by NIH grants HD 11021 and HD 02841. Fertility And Sterility 1983, 40: 86-90. PMID: 6862043, DOI: 10.1016/s0015-0282(16)47182-7.Peer-Reviewed Original ResearchMeSH KeywordsCervix UteriCleft LipFallopian TubesFemaleHumansKidneyMenstruationMullerian DuctsUterine DiseasesUterusVaginaHeritable aspects of uterine anomalies. I. Three familial aggregates with Müllerian fusion anomalies**Supported in part by NIH grants HD 11021 and HD 02841, and grants from the March of Dimes.
Verp M, Simpson J, Elias S, Carson S, Sarto G, Feingold M. Heritable aspects of uterine anomalies. I. Three familial aggregates with Müllerian fusion anomalies**Supported in part by NIH grants HD 11021 and HD 02841, and grants from the March of Dimes. Fertility And Sterility 1983, 40: 80-85. PMID: 6862042, DOI: 10.1016/s0015-0282(16)47181-5.Peer-Reviewed Original Research
1972
Urinary Retention Secondary to Müllerian Duct Cyst in a Child
Feldman R, Weiss R. Urinary Retention Secondary to Müllerian Duct Cyst in a Child. Journal Of Urology 1972, 108: 647-648. PMID: 4651363, DOI: 10.1016/s0022-5347(17)60828-0.Peer-Reviewed Original Research
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