Tracie Pennimpede

TL;DR: This review will discuss the current understanding of the role of RA in teratogenesis, with specific emphasis on the essential function of the RA catabolic CYP26 enzymes in preventing teratogenic consequences caused by uncontrolled distribution of RA.

TL;DR: In this article, the TNF receptor-associated protein 1 (TRAP1) was identified as highly likely causing CAKUT or VACTERL association in two families.

TL;DR: Two novel candidate genes for causing monogenic isolated CAKUT in humans are reported on, it is demonstrated that the newly identified mutations in SRGAP1 lead to an augmented inhibition of RAC1 in cultured human embryonic kidney cells and that the SLIT2 mutations compromise the ability of theSLIT2 ligand to inhibit cell migration.

TL;DR: It is demonstrated here that mice lacking the Tulp3 gene develop abnormalities of both the neural tube and limbs consistent with improper regulation of Shh signaling, which uncovers a novel role for Tulp 3 as a negative regulatory factor in the Hh pathway.

TL;DR: It is shown that there is a reduction of T in the notochord of KD3-T embryos which results in impairedNotochord differentiation and its subsequent loss, whereas levels of TIn the tailbud are sufficient for axis extension and patterning.