A novel nicastrin mutation in a three-generation Dutch family with hidradenitis suppurativa: a search for functional significance.
Allard R J V VossenKelsey R van StraalenS M A SwagemakersJ E M M de KleinA P StubbsD J VenterH H van der ZeeP J van der SpekE P PrensPublished in: Journal of the European Academy of Dermatology and Venereology : JEADV (2020)
This study reports the identification a novel NCSTN gene splice site mutation which causes familial HS. The associated immunobiological functions of NCSTN and its co-expressed genes ARNT and PPARD link genetics to the most common environmental and metabolic HS risk factors which are smoking and obesity.
Keyphrases
- hidradenitis suppurativa
- risk factors
- genome wide
- bioinformatics analysis
- genome wide identification
- metabolic syndrome
- insulin resistance
- type diabetes
- copy number
- early onset
- weight gain
- dna methylation
- emergency department
- gene expression
- adipose tissue
- human health
- climate change
- transcription factor
- physical activity
- drug induced