Stylianos E. Antonarakis

TL;DR: Investigating the epigenetic regulation of lincRNAs observed both positive and negative correlations between DNA methylation and gene expression (expression quantitative trait methylation [eQTMs], as expected, and found that the landscapes of passive and active roles of DNA methylation in gene regulation are similar to protein-coding genes.

TL;DR: This study reports a unique case of autosomal recessive syndromic 46,XY Disorder of Sex Development with testicular dysgenesis and chondrodysplasia resulting from a homozygous G287V missense mutation in the hedgehog acyl-transferase (HHAT) gene and provides the first clinical evidence of the essential role played by lipid modification of Hh proteins in human testicular organogenesis and embryonic development.

TL;DR: It is concluded that RMRP molecular testing may be indicated in individuals with isolated metaphyseal dysplasia, anemia, or immune dysregulation, and the abundance of variations in this small gene is remarkable and at odds with its high conservation through species.

TL;DR: Despite substantial clinical overlap among CC, PJS, CD, and BZS, LOH for the STK11 and PTEN loci is an infrequent event in CC-related tumors.