Catherine E. Keegan

TL;DR: The human connexin 43 gene, or GJA1, is located at human chromosome 6q22-q23 within the candidate region for the oculodentodigital dysplasia locus as mentioned in this paper.

TL;DR: The shelterin complex at mammalian telomeres contains the single-stranded DNA–binding protein Pot1, which regulates telomere length and protects chromosome ends, and it is shown that Tpp1 is required for the protective function of mammalian Pot1 proteins.

TL;DR: The developmental milestones of the adrenal cortex are outlined with recent contributions to the field, focusing on factors that have been shown to play a role in vivo in humans and mice.

TL;DR: In this paper, an array-comparative genomic hybridization of 14 individuals from eight families who harbor microduplications within the 22q11.2 region was used to identify the microdeletion associated with DiGeorge/velocardiofacial syndrome.

TL;DR: These findings highlight the unbiased ability of array-comparative genomic hybridization to identify genomic imbalances and further define the molecular etiology and clinical phenotypes seen in microduplication 22q11.2 syndrome.