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(uncombable hair syndrome)
56 results
  • [A girl with unruly hair]. [Journal Article]
    Ned Tijdschr Geneeskd 2019; 163Marijnissen CJM, Houtappel M
  • Uncombable hair syndrome (UHS) is an uncommon hair anomaly that can cause significant psychosocial burden. Defects in hair shaft proteins cause hairs to be frizzy and difficult to comb flat. UHS occurs in children and improves with age. We describe a case of a 3-year-old girl with UHS.
  • Spontaneous Quick Resolution of Uncombable Hair Syndrome-Like Disease. [Journal Article]
    Skin Appendage Disord 2019; 5(3):162-164Ramot Y, Zlotogorski A, Molho-Pessach V
  • Uncombable hair syndrome (UHS) is a unique hair shaft disease characterized by frizzy, straw-colored hair, which is resistant to combing and brushing. Familial cases have been described, and recently mutations in genes related to trichohyalin production have been reported as the cause for this condition. UHS usually manifests during early childhood, and gradually resolves at puberty. Herein, we r…
  • Transglutaminase diseases: from biochemistry to the bedside. [Journal Article]
    FASEB J 2019; 33(1):3-12Lorand L, Iismaa SE
  • In humans, 9 members of the transglutaminase (TG) family have been identified, of which 8 [factor XIII (FXIII)A and TG1-TG7] catalyze post-translational protein-modifying reactions, and 1 does not (protein 4.2). The TG enzymatic activities considered in our discussion of human disease include deamidation of glutamine (Gln) residues, amine incorporation into Gln residues, and protein crosslinking.…
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