2025
Biallelic variants in the conserved ribosomal protein chaperone gene PDCD2 are associated with hydrops fetalis and early pregnancy loss
Landry-Voyer A, Holling T, Mis E, Hassani Z, Alawi M, Ji W, Jeffries L, Kutsche K, Bachand F, Lakhani S. Biallelic variants in the conserved ribosomal protein chaperone gene PDCD2 are associated with hydrops fetalis and early pregnancy loss. Proceedings Of The National Academy Of Sciences Of The United States Of America 2025, 122: e2426078122. PMID: 40208938, PMCID: PMC12012559, DOI: 10.1073/pnas.2426078122.Peer-Reviewed Original ResearchConceptsRibosomal RNA processingRNA processingNonimmune hydrops fetalisRibosomal biogenesis disordersNext generation sequencingRibosome biogenesisPregnancy lossPatient variantsMolecular chaperonesExome sequencingGeneration sequencingPDCD2Biallelic variantsGenetic variantsHydrops fetalisIndependent familiesIn vivo approachesAffected fetusMolecular causesPrimary fibroblastsDevelopmental defectsMonogenic disordersAssociated with hydrops fetalisUS5Early pregnancy loss
2024
Modulation of canonical Wnt signaling regulates peribiliary mesenchymal identity during homeostasis and injury
Singh S, Budiman T, Redmond D, Gupta V. Modulation of canonical Wnt signaling regulates peribiliary mesenchymal identity during homeostasis and injury. Hepatology Communications 2024, 8: e0368. PMID: 38251878, PMCID: PMC10805418, DOI: 10.1097/hc9.0000000000000368.Peer-Reviewed Original ResearchConceptsT-box transcription factorTranscription factorsMesenchymal gene expressionSignaling effectorsGene expressionGli transcription factorsGene transcription programUpregulation of TBX2Gain of functionSingle-cell sequencingExtrahepatic bile ductCellular identityTranscriptome analysisTranscriptional programsReceptor-ligand analysisMyofibroblast transdifferentiationIn vivo approachesB-cateninT-boxSignaling pathwayBile ductTbx3 expressionTbx3Primary sclerosing cholangitisBile duct ligation
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