A Novel Missense Variant in the NKX2-1 Prevents Transcriptional Rescue by TAZ.

Brain-lung-thyroid syndrome (BLTS) is caused by haploinsufficiency, resulting in chorea/choreoathetosis, respiratory problems, and hypothyroidism. Genes interacting with NKX2-1 mutants influence its phenotypic variability. We report a novel missense variant and the modifier function of TAZ/WWTR1 in BLTS.

Transient Expression in Islets During Pregnancy Correlates With β-Cell Survival, Revealing a Novel Candidate Gene in Gestational Diabetes Mellitus.

Transient expression was reported in mouse islets during gestation, whereas a genome-wide linkage and admixture mapping study highlighted as a candidate gene for diabetes mellitus (DM). We sought the significance of PAX8 expression in mouse and human islet biology. was induced in gestating mouse islets and in human islets treated with recombinant prolactin.