April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that the loss of SETDB1 in epidermal keratinocytes led to altered chromatin states, increased ERV expression, and activation of immune responses, while inhibiting these effects with certain antiviral drugs reduced skin inflammation and hair loss in a mouse model.
50 citations
,
September 2009 in “Molecular Genetics and Metabolism” This study identified a novel V26M mutation in the vitamin D receptor as the cause of hereditary vitamin D resistant rickets in a patient, characterized by severe rickets and an unusual pattern of alopecia.
6 citations
,
June 2016 in “Journal of cellular biochemistry” This study found that the mammalian Hr protein can interact with the p53 pathway by binding to a specific p53 response element, influencing the regulation of genes involved in cell cycle control.
64 citations
,
July 2016 in “Cold Spring Harbor Perspectives in Medicine” The p53 protein has complex, sometimes contradictory functions, including tumor suppression and promoting cell survival.
February 2009 in “RePub (Erasmus University Rotterdam)” This thesis investigates the role of phosphorylation and the mutation F826L in modulating androgen receptor activity, but concludes that the precise effects are not yet fully clear.
