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Background
Epidermolysis bullosa (EB) features skin and mucosal fragility due to pathogenic variants in genes encoding components of the cutaneous basement membrane. Based on the level of separation within the dermal‐epidermal junction, EB is sub‐classified into four major types including EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler EB (KEB) with 16 EB‐associated genes...
ADAM17, encoding ADAM metallopeptidase domain 17, is a membrane‐bound shedding protease, which plays an essential role during normal development and in the regulation of inflammation. Biallelic variants in ADAM17, resulting in complete loss of ADAM17 expression, have been reported in individuals affected by rare neonatal inflammatory skin and bowel disease 1 (NISBD1). Here, we report on a young female...
Kaposi's sarcoma-associated herpesvirus (KSHV) is implicated in the etiology of several human malignancies. KSHV open reading frame (orf) 35 encodes a conserved gammaherpesvirus protein with an, as yet, unknown function. Employing the bacterial artificial chromosome (BAC) system, we generated a recombinant viral clone that fails to express ORF35 (BAC16-ORF35-stop) but preserves intact adjacent and...
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