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.
175 citations
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December 1980 in “Archives of Dermatology” In this study, researchers examined two new cases of trichothiodystrophy and observed that the condition is linked to decreased synthesis of high-sulfur matrix proteins in hair.
144 citations
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May 1990 in “Journal of the American Academy of Dermatology” 71 citations
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May 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that trichothiodystrophy hair brittleness is linked to abnormalities in sulfur content and structural organization, making it prone to breakage.
68 citations
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August 2009 in “American Journal of Medical Genetics Part A” 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.