This case report of a four-year-old girl with Nicolaides-Baraitser syndrome highlights severe atopic dermatitis and worsening alopecia, suggesting that SMARCA2 dysfunction may impact skin barrier integrity and hair health, necessitating aggressive dermatologic treatment.
4 citations
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May 2006 in “médecine/sciences” This study suggests that the hairless gene encodes a nuclear factor important for hair follicle integrity, and its absence leads to hair follicle loss and defects in tissue development.
September 2017 in “Journal of Investigative Dermatology” In this study, the novel ASAXA-μCT imaging method identified that the shrinkage of sweat glands with aging causes dermal defects, reducing skin elasticity and contributing to wrinkling and sagging.
30 citations
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October 2014 in “PLOS ONE” This study found that BAF200, a subunit of the PBAF chromatin remodeling complex, is crucial for heart development and coronary artery formation in mice, as its absence led to embryonic lethality with severe cardiac defects.
September 2017 in “Journal of Investigative Dermatology” This study found that dermal papilla cells exhibit stage-dependent variation in histone methylation during the hair follicle cycle and display distinct chromatin marker expression when transitioning to in vitro culture.