Search results for "HNF4a"

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An epistatic mini-circuitry between the transcription factors Snail and HNF4α controls liver stem cell and hepatocyte features exhorting opposite reg…

2011

Preservation of the epithelial state involves the stable repression of epithelial-to-mesenchymal transition program, whereas maintenance of the stem compartment requires the inhibition of differentiation processes. A simple and direct molecular mini-circuitry between master elements of these biological processes might provide the best device to keep balanced such complex phenomena. In this work, we show that in hepatic stem cell Snail, a transcriptional repressor of the hepatocyte differentiation master gene HNF4α, directly represses the expression of the epithelial microRNAs (miRs)-200c and-34a, which in turn target several stem cell genes. Notably, in differentiated hepatocytes HNF4α, p…

Transcription GeneticTranscription FactorCellular differentiationLiver Stem CellSnailMESH: Mice KnockoutMESH: HepatocytesMice0302 clinical medicineSnail; hnf4a; mir-200; mir-34a; stemness; hepatocyte differentiationHepatocyteMESH: AnimalsMice KnockoutHepatocyte differentiationmir-34a0303 health sciencesStemneStem CellsMicroRNACell DifferentiationMESH: Transcription FactorsCell biologySnailmir-200Hepatocyte Nuclear Factor 4Liver030220 oncology & carcinogenesisMiRs-200MESH: Hepatocyte Nuclear Factor 4Hepatocyte differentiation; HNF4a; MiR-34a; MiRs-200; Snail; Stemness; Animals; Cell Differentiation; Epithelial-Mesenchymal Transition; Hepatocyte Nuclear Factor 4; Hepatocytes; Liver; Mice; Mice Knockout; MicroRNAs; Snail Family Transcription Factors; Stem Cells; Transcription Factors; Transcription Genetic; Cell Biology; Molecular BiologyStem cellhnf4aMESH: Cell Differentiationhepatocyte differentiationEpithelial-Mesenchymal TransitionMESH: Stem Cells[SDV.BC]Life Sciences [q-bio]/Cellular BiologyBiologystemness03 medical and health sciencesStem Cellbiology.animalAnimals[SDV.BBM]Life Sciences [q-bio]/Biochemistry Molecular BiologyEpithelial–mesenchymal transitionMESH: MiceMolecular BiologyTranscription factor030304 developmental biologyOriginal PaperAnimalMESH: Transcription GeneticSnail Family Transcription FactorCell BiologyMolecular biologyMicroRNAsMESH: Epithelial-Mesenchymal TransitionHepatocyte nuclear factor 4HepatocytesSnail Family Transcription FactorsMESH: MicroRNAsMESH: LiverTranscription FactorsCell Death & Differentiation
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MODY izraisošo mutāciju detektēšana, izmantojot eksomu sekvenēšanu

2015

MODY (Maturity Onset Diabetes of the Young) ir monogēnā cukura diabēta veids, kam raksturīga autosomāli dominanta pārmantošana un simptomu izpausme pirms 25 gadu vecuma. Mutācija kādā no trim gēniem – HNF1α, HNF4α un GCK, sastāda 70-80% MODY gadījumu, tomēr pastāv vēl vismaz 10 gēni, kuros radušās mutācijas spēj izraisīt MODY simptomus. Bakalaura darba mērķis ir detektēt MODY izraisošās mutācijas, izmantojot eksomu sekvenēšanu. Eksomu sekvenēšana tika veikta 11 pacientiem no trim ģimenēm. Vienā no ģimenēm tika atrasta jauna mutācija HNF1α, kas ir tikai ģimenes locekļiem ar MODY un noteikta kā slimību izraisoša, tādējādi apstiprinot diagnozi MODY3. Bakalaura darbs tika izstrādāts Latvijas Bi…

eksomu sekvenēšanaGCKMODYBioloģijaHNF4aHNF1a
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