11 citations
,
May 2011 in “World Journal of Pediatrics” The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
7 citations
,
January 1998 in “EXPERIMENTAL ANIMALS” This study found no significant differences in lectinhistochemical characteristics of the dorsal skin epidermis between hypotrichotic WBN/Ila-Ht rats and Wistar rats, except for varying lectin binding intensity.
January 2023 in “Pesquisa Veterinária Brasileira” This study reports that hypotrichosis congenita in Hereford cattle is associated with a KRT71 mutation, leading to color dilution follicular dysplasia.
101 citations
,
October 2007 in “Journal of Biological Chemistry” This study indicates that reduced activity of the matriptase-prostasin proteolytic cascade is likely the cause of human autosomal recessive ichthyosis with hypotrichosis, as demonstrated using a novel mouse model.
99 citations
,
October 2008 in “Journal of Investigative Dermatology” This study identified genetic mutations linked to congenital ichthyosis in families from the UAE and Turkey, revealing a connection between keratinization disorders and impaired filaggrin processing.