Article
Hnf1b haploinsufficiency differentially affects developmental target genes in a new renal cysts and diabetes mouse model.
Disease models & mechanisms - 1 May 2021
Niborski Leticia L, Paces-Fessy Mélanie, Ricci Pierbruno, Bourgeois Adeline, Magalhães Pedro, Kuzma-Kuzniarska Maria, Lesaulnier Celine, Reczko Martin, Declercq Edwige, Zürbig Petra, Doucet Alain, Umbhauer Muriel, Cereghini Silvia
Abstract excerpt
Heterozygous mutations in HNF1B cause the complex syndrome renal cysts and diabetes (RCAD), characterized by developmental abnormalities of the kidneys, genital tracts and pancreas, and a variety of renal, pancreas and liver dysfunctions. The pathogenesis underlying this syndrome remains unclear as mice with heterozygous null mutations have no phenotype, while constitutive/conditional Hnf1b ablation leads to more...
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