Although filaggrin (FLG) loss-of-function
mutations are the strongest and best-replicated genetic links to AD worldwide (outside of Africa), the specific FLG mutation spectrum has been found to differ among populations.
To date, almost 50 loss-of-function
mutations have been identified.
The characterization of naturally occurring gain-of-function and loss-of-function
human PCSK9 variants has increased our understanding of the cell biology and function of this secreted glycoprotein.
Gene-environment interaction in the onset of eczema in infancy: filaggrin loss-of-function
mutations enhanced by neonatal cat exposure.
Novel, missense and loss-of-function
mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients.
We have developed a high-throughput genome targeting and validation platform that allows us to tackle large-scale loss-of-function
studies both at a polyclonal as well as an arrayed format.
Given the high lifetime risk for breast cancer in PALB2 loss-of-function
mutation carriers, the study investigators back the inclusion of PALB2 when testing women from high-risk breast cancer families, together BRCA1 and BRCA2.
The researchers compared sequencing data to look for genetic differences and identify new loss-of-function
mutations-which are rarer, but have a more severe effect on ordinary gene function-in cases of schizophrenia that had not been inherited from the patients' parents.