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In this case study, a girl with hereditary vitamin D resistant rickets had a novel mutation in the VDR gene that affected hair cycling without causing total alopecia, suggesting ligand-independent VDR function in hair cycling.

This research discusses potential cancer vaccine strategies using cell-based and DNA vector-based approaches, and suggests targeting the v3 splice variant of thioredoxin reductase 1 to inhibit cancer cell motility and metastasis formation.

Mutations in β1 integrins cause embryonic death but have milder effects on skin.

This study found that loss of the Pten gene in Lgr5+ hair follicle stem cells promoted squamous cell carcinoma formation through the Akt/β-catenin signaling pathway.

ATP-sensitive potassium channels are important for hair growth.

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.

In this study, researchers observed that dormant TRP-2+ melanoma cells in bone marrow can interact with CD8+ T cells in tumor-bearing ret transgenic mice, potentially influencing immune responses.

This study successfully developed and characterized a monospecific monoclonal antibody, LHTric-1, that specifically localizes to the pre-cortical region of the hair follicle and can aid research on hair and nail formation.

This source reports that trastuzumab deruxtecan improves outcomes in HER2-positive and HER2-low metastatic breast cancer, emphasizing the need for careful adverse event monitoring, particularly for interstitial lung disease, and managing emetic risk to maximize benefits.

This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.

A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

This report describes two patients with ichthyosis linearis circumflexa exhibiting symptoms resembling Netherton's disease, noting multiple hair shaft defects and discussing a possible connection to aminoaciduria.

This study found that the enzyme encoded by Dgat1 acts as a retinol acyltransferase in murine epidermis, protecting against retinoid toxicity and alopecia by preventing retinol accumulation.

In this study, evidence that trichodysplasia spinulosa-associated polyomavirus targets follicular keratinocytes was observed in a pediatric case, suggesting these cells as the primary viral target.

This study reports that a homozygous A1103G mutation in DSG 4 is responsible for localized autosomal recessive hypotrichosis in a 2-year-old Chinese girl, resulting in reduced DSG 4 expression and hair defects.

This study discovered that TTR is expressed in the human placenta as early as 6 weeks gestation, with increased levels in the first trimester potentially facilitating thyroid hormone delivery to the fetus.

In this study, researchers used a reporter mouse model to identify and characterize distinct subtypes of dopaminergic neurons in the gut's enteric nervous system, revealing novel populations with potential implications for understanding their roles and vulnerabilities in disease.

This study investigated demographic and clinical characteristics of twenty-nail dystrophy in Korea, identifying differences in subtype and gender predominance between children and adults.

This study successfully established Tsc2-deficient embryonic stem cells from Eker rats and found these cells have distinct gene expression compared to non-mutant cells, which could help identify new therapeutic targets for TSC-related pathogenesis.

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 reported that overexpressing ornithine decarboxylase in C57Bl/6 mice increased their sensitivity to tumor promotion by TPA, a change reversible by doxycycline treatment.

This review discusses the similarities between myotonic dystrophy and aging, highlighting the role of cellular senescence in its pathophysiology, and reports no new clinical findings; the authors note potential anti-aging therapy applications.

This study developed a novel monoclonal antibody, TYHF-1, which specifically reacts with hair keratins but not with epidermal keratins or various other tissue cells.

This study found that "early" transit amplifying cells, marked by CD271, are the first keratinocyte stem cell progenitors with distinct features, playing a significant role in early epidermal differentiation and regeneration.

This study found that conditional expression of TGFβ1 in mice affects epidermal and hair follicle growth, with chronic expression causing severe alopecia and a negative feedback loop involving Smad7.

This study found that patients with myotonic dystrophy type 1 developed basal cell carcinomas at a younger age than the general population, suggesting a possible predisposition in this group.

This review discusses the diverse roles of the TRPS1 gene in regulating cartilage, kidney, and hair follicle development, highlighting its functions and interactions, but provides no new experimental results.

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 identified a new pathogenic variant, c.1081G>T; p.(Glu361*), in the KRT31 gene as a cause of autosomal-dominant monilethrix, highlighting the role of hair keratin proteins in hair and nail tissue disorders.