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This study found that mimicking the XPD point mutation in mice resulted in trichothiodystrophy-like symptoms, supporting the role of basal transcription and DNA repair defects in the disease.

This study found that deleting the ATR gene in adult mice led to rapid onset of age-related traits such as hair graying and osteoporosis through reduced regenerative capacity.

This study systematically reviewed clinical findings in trichothiodystrophy patients and suggested a new clinico-genetic classification to help better understand the ichthyotic phenotype and its management.

This review discusses genome maintenance mechanisms critical for preventing age-related diseases by preserving stem and progenitor cell potential, but reports no new empirical findings.

A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.