ATP-dependent chromatin remodeling protein ATRX is an essential regulator involved in maintenance of DNA structure and chromatin state and regulation of gene expression during development. ATRX was originally identified as the monogenic cause of X-linked α-thalassemia mental retardation (ATR-X) syndrome. Affected individuals display a variety of developmental abnormalities and skeletal deformities.
View Article and Find Full Text PDFThe aim of this study is to present a panel that includes the main bacterial genera associated with endometritis. We conducted a search using the terms "endometritis women" OR "female endometritis" OR "pelvic inflammatory disease" AND bacteria* OR "uterine microbiome" in two databases: PubMed and Web of Science, without language or publication year restrictions. The panel is based on an analysis of 40 studies published over the past 38 years.
View Article and Find Full Text PDFHeterozygous pathogenic variants in are associated with oligodontia-colorectal cancer syndrome (ODCRCS), a disorder characterized by oligodontia, colorectal cancer, and in some cases, sparse hair and eyebrows. We have identified four individuals with one of two , heterozygous variants (NM_004655.4:c.
View Article and Find Full Text PDFGene therapy with Adeno-Associated Viral (AAV) vectors requires knowledge of their tropism within the body. Here we analyze the tropism of ten naturally occurring AAV serotypes (AAV3B, AAV4, AAV5, AAV6, AAV7, AAV8, AAV9, AAVrh8, AAVrh10 and AAVrh74) following systemic delivery into male and female mice. A transgene expressing ZsGreen and Cre recombinase was used to identify transduction in a cell-dependent manner based on fluorescence.
View Article and Find Full Text PDF