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This case report describes a 13-year-old with DSD raised as female, exhibiting hoarseness and clitoral enlargement, with hormonal assessments not indicating common related deficiencies.

In this study, researchers identified PSENEN mutations that can lead to a form of Dowling-Degos disease, characterized by follicular hyperkeratosis and an increased susceptibility to acne inversa, especially in the presence of certain trigger factors.

In a DNFB-induced mouse model of atopic dermatitis, this study found that both topical and oral formulations of the probiotic Bifidobacterium animalis J12 improved AD symptoms through distinct mechanisms, with topical applications reducing local inflammation and oral administration enhancing gut microbiota and reducing systemic inflammation.

In this study, nucleotide sequence variation in the KRTAP13-3 gene was associated with changes in heterotypic hair fibre diameter variation in Chinese Tan sheep.

In this study, researchers identified five unique sequences of the ovine KAP13-3 gene, with potential implications for wool traits due to observed amino acid changes.

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.

In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.

This study found that during hair follicle morphogenesis in embryos, the expression pattern of the Hoxc13 gene and skin thickness show similar trends, suggesting possible regulatory mechanisms within Hoxc13 intron regions.

This study found that Hoxc13-/- rabbits exhibit complete hair loss on the head and dorsum, providing a potential model for understanding human ECTD-9 and related dermatological conditions.

This study found a significant association between reduced FGF13 levels and X-linked congenital generalized hypertrichosis, suggesting FGF13's potential role in hair follicle growth and the hair cycle.

This case report describes a father with HOXC13-associated pure hair-nail ectodermal dysplasia, presenting with severe nail dystrophy affecting all digits and notable hypotrichosis or complete alopecia.

This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.

In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.

This study found that TPA treatment transiently induces high levels of ODC in mouse epidermal cells, particularly around hair follicles, with localization reduced by retinoic acid or cycloheximide pretreatment.

This study identified eight alleles of the caprine KAP13-3 gene in cashmere goats, which could influence gene expression and cashmere fiber characteristics.

Farudodstat may effectively treat alopecia areata without harmful side effects.

This study found that applying both dehydrothermal treatment and carbodiimide crosslinking improved the mechanical properties of porcine acellular dermal matrix scaffolds without added cytotoxicity, suggesting potential applications in tissue engineering.

In this study, researchers identified and examined males with 17 beta-HSD3 deficiency in a highly inbred Arab population, noting genetic findings and the progression of male characteristics despite being raised as females initially.

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

This invention reports piperazine derivatives as potent inhibitors of type 3 17β-hydroxysteroid dehydrogenase, suggesting potential therapeutic applications in treating prostate cancer, acne, and androgenic alopecia.

This study found that mice with a mutation in the Zdhhc13 gene exhibited increased susceptibility to skin cancer, highlighting a potential protective role of palmitoyl acyltransferase in skin carcinogenesis.

This study suggests that DcR3 can reprogram macrophages towards a reparative state, enhancing wound healing and hair follicle regeneration, making it a potential target for treating chronic wounds and alopecia.

This study observed that mice with a Cx43 mutation exhibited slower and asynchronous hair regrowth with severe cuticle weathering, mimicking aspects of hair phenotype in some ODDD patients.

This study found that Hoxc13 gene expression, influenced by melatonin, was associated with hair follicle activity in Cashmere goats, with in vitro evidence suggesting effects on genes relevant to follicle development.

This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.

This study identified a novel locus for hereditary hypotrichosis simplex on chromosome 13q12.12~12.3 in a four-generation Chinese family.

This research presents the Dodatek A model, elaborating on androgen function through new mathematical indices and methodological improvements, shifting focus from serum hormone concentrations to system interactions to better describe androgen activity comprehensively.

This study suggests that the DNMT3B -579 G>T polymorphism may be a genetic risk factor for colorectal cancer in the Azerbaijani population.