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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 loss of function variants in the HR gene as likely causes of the distinct roaning hair coat seen in lykoi cats.

This study found that two unrelated domestic shorthair cats had novel DSG4 gene mutations causing defective hair shafts, representing the first report of pathogenic DSG4 variants in domestic animals.

This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.

A JAK1 variant causes hair loss, skin issues, and thyroid disease, but treatment with a specific inhibitor can help.

This article discusses the characteristics, diagnosis, and clinical presentation of different variants of lichen planopilaris on the scalp, with emphasis on cicatricial alopecia and the importance of clinical and trichoscopic monitoring; it presents no new clinical results.

This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.

This study found that Swiss cattle exhibiting rat-tail syndrome are heterozygous for genetic variants linked to pigmentation and color dilution, likely due to Holstein introgression in the Simmental breed.

This study observed that atopic dermatitis severity was associated with higher eosinophil counts and FLG variants, suggesting distinct endotypes that may require tailored treatment approaches.

This study found that male pattern baldness in European males is strongly heritable and associated with genetic markers linked to earlier puberty, bone density, and pancreatic function.

This study reported discovering a novel missense variant in a case of autosomal recessive woolly hair in a 31-year-old Chinese woman, which significantly reduced secretion of the encoded protein, likely leading to disease by impairing its hydrolytic function.

This study found that the combination of Stemoxydine® and Resveratrol improved hair density in women with Female Pattern Hair Loss.

This study describes a case of cyclic thrombocytopenia where a novel MPL gene mutation may contribute to the disease, with gene expression changes in platelet and neutrophil genes preceding platelet count fluctuations.

This study identified multiple loss of function variants in the HR gene linked to the unique hair coat phenotype in lykoi cats, also known as werewolf cats.

In this case report, a three-generation family with Gorlin-Goltz syndrome showed a heterozygous PTCH1 splice-donor variant associated with the disease, and two affected relatives benefited from individualized, side-effect-guided dosing of the drug sonidegib, experiencing regression of basal cell carcinoma lesions.

This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.

This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.

This study reports a unique case of common variable immunodeficiency with autoimmunity linked to a heterozygous S250C variant in the autoimmune regulator gene, suggesting a potential molecular basis for this combination.

This study found that certain CYP21A2 mutations significantly reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia phenotypes, which may aid in enhancing diagnosis and treatment strategies.

In this in silico study, researchers analyzed nonsynonymous SNPs in the LIPH gene linked to hypotrichosis and identified three potentially harmful variants (W108R, C246S, and H248N) out of 215 total, using sequence- and architecture-based bioinformatics techniques to differentiate between harmful and benign SNPs.

This study found that FOXN1 haploinsufficiency is a significant genetic factor causing T cell lymphopenia at birth, linked to reduced thymic function in both humans and mice.

This study assessed pharmacogenomic variants and chemotherapy-related toxicity profiles in Tanzanian children with cancer, reporting notable genetic diversity that may influence toxicity but did not evaluate genotype-toxicity associations.

This review discusses the dual role of testosterone in COVID-19 progression and suggests its importance in understanding the disease's mechanisms, highlighting the need for further targeted research.

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 literature review highlights the changing epidemiology of tinea capitis due to global migration and underscores the importance of early recognition and treatment of atypical variants in immunocompetent children to minimize prolonged systemic antifungal therapy and prevent adverse events, especially regarding liver health.

In this study, FMN was found to inhibit androgen receptor function and androgen-regulated gene expression in prostate cancer cells, suggesting potential as an antiandrogen therapy.

This case report highlights a patient with Ayme-Gripp syndrome, revealing an association between the syndrome and hypothyroidism, and underscores the importance of considering rare genetic conditions in differential diagnoses of endocrinopathies.

This study identified a gene transcript overexpressed in dermal papilla cells, showing strong similarity to a mouse gene associated with adipose tissue in bombesin receptor subtype-3-deficient mice.

This article reviews the design and objectives of the Rotterdam Study, as well as summarizes major findings, without reporting new results.

In this study, a young Chinese male with a specific mitochondrial mutation was reported to have proteinuria and renal dysfunction, with stable kidney function after treatment over 23 months.