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This study characterized two siblings with hereditary vitamin D resistant rickets and a mutation in the vitamin D receptor, finding no immune-related disorders despite a defective T cell response to vitamin D.

This article discusses the structure of the human type II 5 alpha-reductase gene and reports no new experimental results.

The study found that dermal EZH2 plays a crucial role in coordinating dermal fibroblast differentiation and epidermal development by modulating Wnt/β-catenin and retinoic acid signaling.

This study by Pérez-Oliva et al. explored how Mahogunin Ring Finger-1 (MGRN1) affects melanocortin-1 receptor (MC1R) signaling, suggesting that MGRN1 competitively inhibits Gαs binding to MC1R, influencing pigment production.

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.

CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.

This study developed new immortalized keratinocyte cell lines lacking COL7A1 using CRISPR/Cas9 technology, providing a valuable model to explore the biology and treatment options for recessive dystrophic epidermolysis bullosa.

This study found that nuclear androgen receptor expression was enhanced by dihydrotestosterone in rat gubernacular mesenchyme, but this did not affect muscle morphology or matrix composition during fetal development.

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

In this study, researchers found that RORA directly regulates the expression of the Bnip3 gene, which is crucial for hair follicle stem cell health, using rat HFSCs as a model. They propose that targeting RORA could modulate HFSC status.

In this study, two unique mutations in the RBPJ gene were identified and linked to Adams-Oliver syndrome, confirming impaired DNA binding of mutated RBPJ as a factor in this rare genetic disorder.

This study found that the combination of TTNPB and CHIR99021 enhanced the derivation of highly advanced neural stem cells from human pluripotent stem cells, with improved chromatin accessibility and neuroectodermal gene expression, and these cells successfully engrafted in rat hippocampi to ameliorate depression-like symptoms.

This study identified ectodin as a novel BMP inhibitor that modulates BMP signaling in ectodermal development by interacting with SHH and FGF pathways.

In this study, the anti-wrinkle effect of bone morphogenetic protein receptor 1a extracellular domain was significantly greater than that of retinoic acid in a mouse model, suggesting potential for BMP antagonists in skin or hair treatments.

This study details the isolation and characterization of the human type II 5 alpha-reductase gene, which may play a role in male pseudohermaphroditism, prostate cancer, and benign prostatic hyperplasia.

This study provides the first crystal structure of the human SRD5A2 enzyme, revealing key insights into its function and inhibition which may aid future drug development.

In a retrospective cohort of patients with steroid 5 α-reductase 2 deficiency, this study identified seven novel genetic variants in the SRD5A2 gene, expanding the variant database and contributing to improved diagnostic and therapeutic approaches for the condition.

This study demonstrated that both HR isoforms are expressed in keratinocytes, but HRDelta1072-1126 lacks corepressor activity and may act as a coactivator by inhibiting HDAC recruitment to the VDR transcriptional complex.

This case study reports on a rare form of vitamin D resistant rickets in a 37-year-old male, highlighting the condition's clinical features and the necessity for a thorough understanding of calcium and vitamin D metabolism in the diagnosis and management of metabolic bone diseases.

The researchers reported that disrupting ATRA signaling by deleting RDHE genes in the hair follicle led to altered hair follicle cycles, composition, and gene expression, indicating RDHEs' role in hair follicle signaling coordination.

This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.

This report describes two cases of glucocorticoid resistance syndrome highlighting genetic diversity; one patient improved with low-dose dexamethasone despite negative genetic testing, while the other is monitored with a novel NR3C1 variant.

In this study using Angora rabbits, researchers found that the FRZB gene inhibits hair follicle development by modulating the Wnt/β-catenin signaling pathway, affecting the expression of various genes related to this pathway and altering cell proliferation and apoptosis.

This mini-review explores how both endogenous and damage-released RNAs serve as instructional signals that influence cell identity and plasticity during tissue maintenance and repair, highlighting RNA's role as a regulator of cellular flexibility in various regenerative contexts.

This review suggests that PDRN shows promise as a safe and versatile regenerative agent for wound healing and other dermatological applications, based on its dual mechanisms and clinical evidence of efficacy.

This study found that NNAT is localized in both undifferentiated and differentiated cells across various rat tissues and has cell-specific intracellular localization, suggesting distinct functional roles.

The study observed that mRAGE expression is prevalent in keratinocytes of the healthy human epidermis and may regulate inflammation and apoptosis to maintain skin homeostasis rather than responding to aging processes.

This study reported that ELL is crucial for maintaining the proliferative capacity of the basal layer in human epidermal keratinocytes by stabilizing RNA polymerase II at the transcription start site.

This study found that overexpression of the mineralocorticoid receptor in a mouse model led to premature epidermal barrier development, keratinocyte apoptosis, and postnatal alopecia, indicating new roles for MR signaling in skin physiology.