Publications by authors named "Katie Styren"
Hydrogen sulfide, a signaling molecule formed mainly from cysteine, is catabolized by sulfide:quinone oxidoreductase (gene SQOR). Toxic hydrogen sulfide exposure inhibits complex IV. We describe children of two families with pathogenic variants in SQOR.
View Article and Find Full Text PDFObjectives: In vitro fertilization (IVF) has been linked to an increased risk for imprinting disorders in offspring. The data so far have predominantly been retrospective, comparing the rate of IVF conceptions in affected patients with controls. We describe a series of fetuses with omphalocele that were tested for Beckwith-Wiedemann syndrome (BWS) and subsequently ascertained as to whether pregnancies were conceived by assisted reproductive technologies (ART).
View Article and Find Full Text PDFArticle Synopsis
- Deletion and truncation mutations in the X-linked CASK gene lead to severe intellectual disability and other neurological issues in girls, believed to impact the CASK-Tbr-1 interaction, although this hasn't been directly tested.
- Researchers identified three girls with heterozygous missense mutations (M519T and G659D) in CASK showing significant neurological symptoms, indicating that these mutations may disrupt crucial protein interactions.
- The findings suggest that the impairment of the CASK-neurexin interaction, rather than the CASK-Tbr-1 interaction, is responsible for the observed neurological conditions, highlighting the need for thorough validation of genetic variants.