research Bloom's syndrome–‐a first report from India
This case report describes a 6-year-old boy with Bloom syndrome characterized by distinct facial skin changes, delayed development, and a high frequency of sister chromatid exchanges.
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5 / 1000+ resultsresearch Tailored chromatin modulation to promote tissue regeneration
This review discusses epigenetic mechanisms in tissue repair across species and summarizes recent CRISPR-based technologies as promising tools for studying and enhancing tissue regeneration, but reports no new experimental results.
research Hairless is a nuclear receptor corepressor essential for skin function
This study identified the Hairless (Hr) gene-encoded protein as a corepressor that plays a crucial role in maintaining skin and hair by regulating epithelial stem cell differentiation and gene expression via chromatin remodeling, which may impact both development and disease.
research Hairless: A nuclear receptor corepressor essential for skin function
This review discusses the roles of the hairless (HR) protein as a corepressor, particularly its impact on RORα-mediated transcriptional repression, and reports no new experimental findings.
research Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument
This article presents an update on a family with Coats' plus disorder, documenting additional symptoms and two new similar cases, and reviews literature suggesting a link to dyskeratosis congenita for potential molecular insights.
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