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The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.

This case report describes the first instance of juvenile hemochromatosis type 2A associated with secondary hypothyroidism, linked to a novel mutation in the HJV gene.

This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.

In liver cancer cells, this study found that upregulating hsa_circ_0002980 inhibits cell proliferation, metastasis, and EMT by modulating the miR-1303/CADM2 axis, suggesting it as a potential therapeutic target.

TEDAR is crucial for skin cell differentiation and barrier formation.

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 identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.

This study found that the hair interior defect in AKR/J mice is linked to a mutation in the Soat1 gene, which disrupts SOAT1 protein expression and affects lipid metabolism critical for normal hair formation.

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 study found that post-finasteride syndrome patients showed a tissue-specific methylation pattern of the SRD5A2 promoter in cerebrospinal fluid, potentially affecting neuroactive steroid levels and related behavioral symptoms.

This review synthesizes knowledge on HTRA1-associated disorders, highlighting how mutations in the HTRA1 gene are linked to cerebral small vessel disease and systemic conditions, and discusses emerging diagnostic and therapeutic strategies aimed at precision medicine.

In this report, two adult patients with Tatton-Brown-Rahman syndrome exhibited new cardiac features, such as atrial fibrillation and ventricular and atrial dilatation, highlighting the importance of cardiovascular follow-up in adults with this condition.

This study explores the expression and function of 11β-HSD1 in human hair follicles and its potential regulation of glucocorticoid effects on dermal papilla cells, but reports no definitive findings on 11β-HSD1's role.

This study found that postnatal treatment with recombinant EDA normalized adult teeth, improved sweating, and restored normal lacrimation in dogs with XLHED, suggesting its potential as a treatment for the condition.

This study identifies novel genetic variants in the NOTCH3 and HTRA1 genes associated with CADASIL and CARASIL, highlighting their potential in supporting clinical diagnosis and informing treatment strategies.

This study concluded that the combination of all-trans-retinoic acid and tocopherol-α is not recommended for treating del(5q) myelodysplastic syndromes due to low efficacy and high incidence of adverse effects.

This study found that measuring 24-OHase induction by 1,25(OH)2D3 in cultured skin fibroblasts is a sensitive test for detecting genetic defects in the 1,25(OH)2D effector pathway.

This study found that KSR1 is necessary for v-Ha-ras-mediated skin tumor formation but not for MT-driven mammary cancer, indicating its potential as a therapeutic target in Ras/MAPK signaling-related tumors.

This study identified novel compound heterozygous mutations in the hairless gene among a non-consanguineous Chinese family with congenital atrichia, illustrating phenotypic variations due to founder or modifier genes.

This study found that methylation of the 5-AR 2 promoter region may lead to low or absent 5-AR 2 protein expression in some human adult prostate tissues.

This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.

This review discusses drug-induced hypersensitivity syndrome and drug reaction with eosinophilia and systemic symptoms, highlighting clinical features, potential viral reactivations, and treatment, but reports no new clinical findings.

This study reports the crystallization of the human androgen receptor's ligand-binding domain with nonsteroidal ligands, which may aid in understanding the differences in binding compared to steroidal ligands.

This study used an in silico/in vitro approach to identify potential inhibitors of the enzyme SRD5A2, finding that the androgen receptor modulator MK-0773 is a moderate inhibitor, although it does not act as a covalent inhibitor like finasteride.

This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.

This study found that manipulating AKR1D1 expression in human liver cells effectively regulates glucocorticoid clearance and receptor activation, highlighting its role in liver-specific steroid hormone regulation.

This study identified a new genetic variant in the KRT71 gene responsible for a breed-specific form of hypotrichosis in Hereford cattle, potentially serving as a model for similar human conditions.

In this study, researchers identified a specific T cell receptor associated with carbamazepine-induced severe cutaneous adverse reactions, demonstrating its potential for therapeutic development in patients with the HLA-B*15:02 genotype.

Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.

This study found that specific residues in human steroid 5alpha-reductase types 1 and 2 influence substrate binding and resistance to the inhibitor Finasteride, with certain substitutions significantly affecting these interactions.