33 citations
,
February 2012 in “British Journal of Dermatology” This study found significant changes in gene expression related to skin structure and signaling pathways in AEC syndrome skin, offering new insights into the syndrome's molecular underpinnings.
August 2016 in “Journal of the American Academy of Dermatology” This case study presents a 9-month-old male infant with symptoms suggesting a likely diagnosis of Hay–Wells syndrome, including severe scalp crusting, nail abnormalities, and partial syndactyly.
This study found that genetic ablation of Tslp in an AEC mutant mouse model reduced skin inflammation and improved survival, suggesting potential therapeutic benefits for AEC syndrome patients.
March 2026 in “Cell Death Discovery” In this comprehensive review, researchers examine the p63 gene's crucial role in skin development and pathology, highlighting its regulation of cell processes and its potential therapeutic implications for disorders like ectodermal dysplasia.
October 2005 in “The Journal of clinical investigation/The journal of clinical investigation” This review discusses various theories and mechanisms of aging, highlighting recent findings on the hormone Klotho, which increased lifespan in mice in laboratory settings, but notes a potential trade-off with human health risks.