April 2012 in “Neuropediatrics” This article reviews the genetic and phenotypic characteristics of Trichothiodystrophy and discusses the associated DNA repair defects, but does not report new clinical findings.
7 citations
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June 2024 in “Communications Medicine” In this study, researchers analyzed spaceflight data from various sources and found that skin issues during spaceflight are linked to DNA damage, mitochondrial dysregulation, and gene alterations, while also highlighting the skin's adaptability post-flight.
188 citations
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June 1998 in “Molecular cell” 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 Nubian ibex have developed genetic adaptations in response to their desert environment, including enhanced skin barrier, DNA repair, viral response, and metabolism of toxic compounds.
209 citations
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October 2018 in “Cell Reports” This study found that Lgr5 and Lgr6 stem cells both activated wound-healing genes, but only Lgr5 stem cells changed their identity to contribute to new skin formation during wound repair.