3 rezultātiem
OBJECTIVE
We aimed to assess the biological and clinical significance of the human cysteine protease inhibitor cystatin M/E, encoded by the CTS6 gene, in diseases of human hair and skin.
METHODS
Exome and Sanger sequencing was performed to reveal the genetic cause in two related patients with
Human tears were found to inhibit the thiol-dependent protease, papain. Inhibitory activity in normal tears was compared with that in patients with blepharitis, infectious and allergic conjunctivitis, and herpes simplex. Activities lower than normal were found in some patients with infectious
Autosomal recessive ichthyosis with hypotrichosis (ARIH) syndrome, which is characterized by congenital ichthyosis, abnormal hair and corneal involvement, has recently been shown in one consanguineous Israeli Arab family to be caused by a mutation in the ST14 gene, which encodes serine protease