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 studies