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This study found that transgenic mice overexpressing the SSAT gene under a metallothionein promoter suffered delayed hair loss and were highly sensitive to polyamine analogues, which led to significant liver changes and mortality.

This study found that introducing rat ornithine transcarbamylase gene into spf-ash mice improved liver and intestinal enzyme activity and normalized some metabolic indicators.

In this follow-up of three siblings with ATP6AP1 deficiency, the researchers observed progression to total hearing loss, hair loss, and proteinuria.

In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.

This review discusses the role and interactions of the calcium-binding protein S100A6 in cellular processes and its association with various diseases, highlighting the need for further research to fully understand its biological impact.

In this study, researchers found that both the EU-TIRADS and Bethesda systems exhibited high specificity but suboptimal sensitivity for predicting thyroid nodule malignancy in patients who underwent surgery, with Bethesda system showing particularly high specificity in this postoperative population.

This study identified key regions and transcription factors, including SIX1 and FOXN1 itself, that regulate Foxn1 expression in thymic epithelial cells and hair follicle cells, offering insights into its transcriptional regulation.

This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.

TSH influences keratin expression in human hair follicles.

In this study, sequences upstream of the TGM3 gene were found to regulate epithelial-specific gene expression in keratinocytes, suggesting potential applications in gene therapy.

This study found that systemic treatment with DS77754007, a KLK5 inhibitor, improved skin symptoms in a mouse model of Netherton Syndrome more effectively than certain antibody treatments, suggesting KLK5 inhibition as a promising therapeutic approach for this condition.

This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.

This review highlights the promising clinical outcomes of sacituzumab tirumotecan (sac-TMT), an antibody-drug conjugate for breast cancer that targets TROP2, demonstrating improved response rates and progression-free survival, with manageable safety concerns including primarily mild-to-moderate nausea and alopecia.

This study concluded that transgenic somatic cell nuclear transfer technology can produce cashmere goat blastocysts carrying the K2.9 gene using specific fibroblast cells and activation methods.

This study used single-cell techniques and lineage tracing to reveal that integrin α6 expression in neural crest cells can differentiate them into Schwann cells, melanocytes, and fibroblasts in skin, identifying integrin α6 as a potential marker for these derivatives.

This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.

In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.

This study demonstrated that 5-azacytidine treatment may reduce TSC lesion-related hair follicles in mice, suggesting chromatin remodeling agents could be effective for tuberous sclerosis cutaneous lesions lacking tuberin.

This study suggests that mouse keratin 6 isoforms, K6a and K6b, have overlapping but distinct expression profiles, differing notably in their expression in suprabasal cells and response to phorbol esters.

This study suggests that skin tumor cells in tuberous sclerosis complex may promote hamartoma morphogenesis by expressing and releasing higher levels of cathepsin B.

This study found that METTL1 is upregulated in papillary thyroid cancer tissues and promotes cancer cell proliferation and metastasis through its tRNA methyltransferase activity.

This review discusses recent molecular biology advances in the human phenol sulfotransferase gene family and reports no new results; the authors highlight its relevance for studies of endogenous and xenobiotic metabolism.

This study reports that 2-(1-Adamantyl)-4H-thiochromen-4-on-6-O-sulfamate is the most potent steroid sulfatase inhibitor identified so far, exhibiting 170-fold higher activity than the lead compound estrone sulfamate.

In this study, researchers developed a promising transdermal agent using Triton X-100-modified polyethyleneimine that successfully delivered genetic material to hair follicle cells in mice, potentially alleviating hair loss due to androgenetic alopecia by promoting cell proliferation and inhibiting apoptosis.

In this study, researchers found that syntaxin 9, a novel syntaxin family member, interacts specifically with the epidermal growth factor receptor and may influence its transport and signaling in some epithelial cells.

This study found a specific T cell receptor that may be key in carbamazepine-induced Stevens-Johnson syndrome and toxic epidermal necrolysis, suggesting potential therapeutic targets.

This study found that thymus transplantation in infants with FOXN1 deficiency led to T-cell reconstitution and functional immunity, resolving serious infections and cytopenias.

This study concluded that specific SNPs in the TRPS1 gene significantly alter its protein structure, affecting interactions and contributing to the development of congenital hypertrichosis.

This study found that among Japanese IBD patients, the NUDT15 p.Arg139Cys variant was significantly associated with thiopurine-induced leukopenia and severe hair loss, suggesting its genotyping is important for predicting these adverse events.