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This study identified novel mutations in the DSG4 gene in a Japanese patient with monilethrix, affecting protein interactions that may disrupt hair shaft structure.

In this case report, a patient with pseudovaginal perineoscrotal hypospadias due to 5α-reductase deficiency presented gender dysphoria, and after genomic sequencing confirmation, injectable testosterone undecanoate treatment successfully developed desired male secondary sexual characteristics.

This study investigated the metabolic pathways of epristeride, a new Type II 5α‐reductase inhibitor, using in vitro models and found that its metabolites show significant interactions with key proteins, suggesting implications for its role in doping control.

This study suggests that the HCR risk allele within the PSORS1 locus may contribute to psoriasis susceptibility by altering gene expression related to skin structure and differentiation, although these changes alone might not result in clinical symptoms.

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.

This study provided the first X-ray crystal structure of the mammalian steroid hormone reductase AKR1D1 and identified a disease-related mutant, P133R, which may impact bile acid metabolism and cause clinical symptoms.

In this study, researchers found that DNMT1-mediated methylation of SRD5A2 in urethral epithelial cells from hypospadias-afflicted rats upregulates proteins associated with cell cycle and mitochondrial function, suggesting SRD5A2 as a potential therapeutic target for hypospadias due to its role in modulating cellular functions.

This study describes the first case of female pseudohermaphroditism due to a novel homozygous glucocorticoid receptor gene mutation, indicating possible pre- and postnatal virilization in affected females.

Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.

This article reviews the potential uses of PDRN in regenerative and aesthetic medicine, noting promising results in various treatments but highlighting the need for further long-term studies to confirm their safety and effectiveness.

This article discusses the evaluation of minimal residual disease in childhood acute lymphoblastic leukemia using molecular methods and reports no new findings.

This study found that vitamin D receptor expression is associated with proliferating keratinocytes, while retinoid X receptor α is linked to differentiating keratinocytes, suggesting differential targeting by vitamin D metabolites.

This study found no significant association between selected gene variants and female pattern hair loss, suggesting these genes might not be involved in its development.

This case report details a 17-year-old boy diagnosed with atypical juvenile pityriasis rubra pilaris (type 5) after presenting with persistent itchy skin lesions since age seven.

This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.

In this study, researchers found that methylation of the SRD5A2 gene in blood and tissue samples can serve as a biomarker to predict men's clinical response to finasteride treatment for benign prostatic hyperplasia, offering a non-invasive method for assessing potential treatment success.

This study identified a genetic locus associated with rhabdomyosarcoma susceptibility in mice and found that specific differentiation markers are linked to the regression of basal cell carcinoma.

This study identified a mutation in the keratin 71 gene that causes curly hair in certain rats, advancing our understanding of hair formation.

In this study, a transgenic mouse model suggested that suppressing the expression of the HGPS mutation may reverse disease symptoms, including skin abnormalities, supporting the potential for treatment development.

This study identified genetic variants in the DSG4 gene associated with the autosomal recessive form of monilethrix in Chinese patients, expanding the understanding of its phenotypic spectrum and clinical features.

This study found that the tetracycline-regulated transcription system effectively controls conditional gene expression in the mouse epidermis, allowing suppression and activation of specific genes with doxycycline.

This study reported that the Undiagnosed Disease Program at Ghent University Hospital successfully provided definite diagnoses for 18% of referred adults with suspected rare diseases, primarily through genomic technologies.

This study found that Dermal Fibroblast Progenitors have repressed chromatin profiles which hinder their ability to reform skin in allograft assays despite their differentiation potential.

This study suggests that 5α-reductase-mediated metabolism of progesterone contributes to the differentiation of endometrial stromal cells, potentially influencing progesterone levels and promoting cell differentiation.

The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.

This study found that a truncated region of the K5 promoter directs expression in stratified epithelia, particularly in epidermis, hair follicles, and tongue, potentially involving specific keratinocyte nuclear proteins in regulation.

This study reports that PDRN, commonly used for wound healing, may also have anti-melanogenesis and potential skin whitening effects in both experimental models and clinical settings.

In this study, classic PDRN (50-1,500 kDa) was observed to improve wound healing quality in a mouse model by enhancing collagen composition and cell migration.

This study found that the X-linked gene UTX is crucial for regulating skin differentiation and inflammation in females by affecting retinoic acid signaling, also highlighting potential links to sex disparities in skin diseases.