Using mouse models of several recessive and putative dominant-negative patient mutations we were able to dissect the mechanisms that underlie the recessive and dominant-negative capacities of the corr
Wilms Tumor Protein (WT1) ZnF2-4 Q369H in complex with carboxylated DNA Descriptor: 1,2-ETHANEDIOL, DNA (5'-D(*AP*GP*CP*GP*TP*GP*GP*GP*(1CC)P*GP*T)-3'), DNA (5'-D(*TP*AP*(5CM)P*GP*CP*CP*CP*AP*CP*GP*C)
Background and ObjectivesDefects in the human sodium/iodide symporter (SLC5A5) gene have been reported to be one of the causes of congenital hypothyroidism (CH). We aimed to identify SLC5A5 mutations
Cross-species sequence alignment revealed that the Trp182 residue is highly conserved. Structural modeling indicated that the Trp to Arg substitution alters the local side chain conformation. Function
