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 ResearchConceptsMRKH 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 studiesGenetics 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
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply