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This review discusses the role of RDH12 in vision, its structural and functional aspects, and related disease mechanisms, but reports no new clinical results; it aims to support therapy development for inherited retinal dystrophies.

This study describes GPRC5D's unique expression pattern in tissues that produce hard keratin, with retinoic acid inducing its expression in hair bulb cells and affecting keratin gene regulation.

This study found that mutations in exon 3 of the hr gene are strongly associated with congenital hypotrichosis in Valle del Belice sheep, suggesting a potential genetic link to the disorder.

This study found a novel nonsynonymous genetic variant in the hHb1 gene of a family with monilethrix, which differs from ten previously reported pathogenic mutations.

This study found that CTHRC1 is crucial for sweat gland function and vascular network integrity in mice, and its administration improved sweat gland performance by reconstructing nearby blood vessels.

This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.

This study found a novel R430Q gene mutation in hHb6, which may be linked to the hereditary hair disorder monilethrix in the examined family.

This study found that carbonic anhydrase II was significantly upregulated in human keratinocytes when treated with toll-like receptor 3 agonist and Th2 cytokines, suggesting its potential role in inflammatory skin conditions.

The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.

In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.

This study identified the genes for pyochelin siderophore biosynthesis as a novel target regulated by the heme-responsive PrrH sRNA in Pseudomonas aeruginosa.

CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.

This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.

In this study, the authors reported that AtRXR3, a phosphorus-inducible DUF506 protein, modulates root hair growth under phosphorus stress by interacting with calmodulin and influencing calcium oscillations.

This study reported that the PrrH sRNA in *Pseudomonas aeruginosa* may directly regulate genes involved in pyochelin siderophore biosynthesis, highlighting its role in adapting to heme availability, with light conditions influencing this gene expression.

This study identified a new cis-regulatory element in the mouse Hr gene that influences its expression in skin and brain cells, highlighting a complex molecular network involved in hair follicle formation.

This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.

This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.

This study reported the creation of isogenic immortalized COL7A1-deficient keratinocyte lines, providing a model for researching Recessive Dystrophic Epidermolysis Bullosa biology and potential therapies.

In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.

This study identified a novel I268T mutation in the vitamin D receptor that reduces its function, contributing to hereditary vitamin D-resistant rickets, and found that a potent vitamin D analog could improve receptor function.

In this study, a novel heterozygous transition mutation in the KRT86 gene was identified, which may be pathogenic for monilethrix in a Chinese family.

This study reported that Rapp-Hodgkin syndrome, AEC syndrome, and EEC syndrome are likely part of a single genetic disorder spectrum linked to mutations in the TP63 gene.

This study identifies a mechanism where dsRNA activates TLR3 to induce RA production, promoting hair follicle regeneration in mice and suggesting a potential role in human tissue regeneration.

This study reports on an ongoing Phase I/IIa clinical trial of ex vivo gene therapy for treating severe Recessive Dystrophic Epidermolysis Bullosa, involving six adult participants with COL7A1 mutations resulting in deficient type VII collagen production.

This study identifies iRhom2 as a crucial regulator of hair follicle differentiation, showing that the iRhom2Uncv mutation leads to dysplasia and reduced TACE maturation, resulting in a hairless phenotype in mice.

This study demonstrates that the trichohyalin gene is located at chromosomal region 1q21, where several other genes related to epidermal differentiation also map.

This study found that inherited color dilution in Rex rabbit hair follicles is associated with DNA methylation changes, contributing to understanding the epigenetic regulation of rabbit pigmentation.

This study found that alopecia areata patients with a CCHCR1 gene variant had higher recurrence rates and structural abnormalities in hair compared to those without the variant.