Publications by authors named "Daniela Gonzalez-Fassrainer"
Sulfate plays a pivotal role in numerous physiological processes in the human body, including bone and cartilage health. A role of the anion transporter SLC26A1 (Sat1) for sulfate reabsorption in the kidney is supported by the observation of hyposulfatemia and hypersulfaturia in Slc26a1-knockout mice. The impact of SLC26A1 on sulfate homeostasis in humans remains to be defined.
View Article and Find Full Text PDFArticle Synopsis
- Genomic imprinting is a phenomenon where certain genes are expressed in a parent-of-origin-specific manner, and disruptions can lead to imprinting disorders affecting growth, behavior, and metabolism.
- This study utilized whole-exome sequencing on 38 families with members displaying multilocus imprinting disturbances, revealing 15 new cases linked to harmful variants in maternal effect genes.
- The findings suggest that maternal genetic factors can impact offspring development, indicating the need for testing for such variants in families with unusual imprinting disorders.*
TSPY (testis-specific protein, Y-encoded) genes are expressed in premeiotic germ cells and round spermatids. The topology and timing of TSPY expression, and also its homology to members of the TTSN-family, suggest that TSPY is a proliferation factor for germ cells. There is also evidence for a role of TSPY in the aetiology of testis cancer.
View Article and Find Full Text PDF