11 citations
,
January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
47 citations
,
December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
1 citations
,
August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
36 citations
,
September 2013 in “PLoS ONE” Sweat gland stem cells help maintain glands, aid wound healing, and can regenerate skin structures.
11 citations
,
April 2013 in “Journal of Proteomics” Found different proteins in balding and non-balding cells, giving insight into hair loss causes.