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This case report describes a 4-year-old boy with congenital alopecia characterized by complete irreversible hair loss and papular lesions associated with keratin-filled cysts.

This study presented cases where potentially significant germline variants were unexpectedly found during genomic profiling for myeloid malignancies, discussing the challenges in genetic counseling and management, especially when variants don't match the patient's condition.

In this study, researchers observed that in advanced androgenetic alopecia, increased DNA damage in the frontal bald area may lead to cell apoptosis due to impaired repair capacity.

This study evaluated genetic diversity and morphological trait-associated genes in 897 animals from 14 African sheep breeds, finding the lowest genomic heterozygosity in Zulu sheep and the highest in Merino, with genetic analysis revealing associations between specific morphological traits and certain genes.

This review discusses the potential role of androgen receptor CAG repeat polymorphism testing in hypogonadism management for both sexes, but its clinical utility remains unclear and requires further investigation.

This study found that certain polymorphisms in EGF and EGFR genes may increase susceptibility to alopecia areata in the Korean population, and these genetic variations could be associated with specific symptoms such as nail involvement and body hair loss.

This research highlights significant advancements in forensic DNA phenotyping, enabling predictions of physical traits, ancestry, and age from crime scene DNA, but notes that further research and validation are needed for greater accuracy and reliability.

This study found a significant association between the IRS-2 gene variant and an increased risk of PCOS, especially in non-obese women in the Chinese population from Taiwan.

This abstract reviews recent findings on genetic factors in acne, highlighting the potential of genetic studies to advance understanding of its pathogenesis, but reports no new clinical results.

This study suggests that the 5’UTR SNP rs6457452 of HSPA1B may be associated with the onset of Alopecia Areata and reduced susceptibility in the Korean population.

This study identified differences in adverse symptoms among patients with post-finasteride syndrome based on short and long androgen receptor gene polymorphisms.

This study identified a cluster of genes on chromosome 17 related to hair keratin-associated proteins, including 37 genes forming seven multigene families, localized in the hair shaft's upper cortex.

In this study, the AA genotype of C2 polymorphism was more frequently observed in Chinese patients with systemic lupus erythematosus than controls, indicating it may be a risk factor for the disease.

This study reports that a novel gain-of-function mutation in TMEM173, combined with polymorphisms in TMEM173 and IFIH1, results in a distinct clinical phenotype with features of SAVI, including alopecia and photosensitivity.

This research quantified the fidelity of human mitochondrial DNA polymerase and found it averages 1 error in 440,000 nucleotides, impacting its function related to disease and mitochondrial health.

This study found that aPKCλ, but not aPKCζ, plays a critical role in maintaining hair follicle stem cell populations and promoting wound healing in the epidermis.

This study highlights the phenotypic variability in 5 patients with Woodhouse-Sakati syndrome carrying the c.436delC mutation, suggesting a broader range of clinical presentations than previously recognized.

This study found that serum androgen levels in premenopausal women may be influenced by genetic variants of the androgen receptor and estrogen receptor β genes.

This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.

This study reported that CYP21A2 heterozygous mutations do not significantly contribute to the pathogenesis of polycystic ovary syndrome.

This study identified a recurrent mutation in the endothelin receptor type A associated with mandibulofacial dysostosis with alopecia, and proposed a mechanism involving increased ligand affinity due to structural changes.

This study found that certain tandem repeats predict darker hair color across diverse ancestry groups and can contribute to a polygenic score for hair color, independent of SNP variation.

This study identified a novel E413K mutation in the hHb6 gene in a Chinese Han family with monilethrix, potentially linked to the characteristic moniliform hair structure.

This study observed that Greek Caucasian women with PCOS had distinct serum hormone levels and a specific AKT2 gene SNP, which may play a role in the condition's characteristics.

In this study, researchers propose that the EDAR V370A allele's positive selection in East Asian populations may be linked to stable aquatic resources from Late Pleistocene ecosystems in northern China, suggesting a "nutritional niche construction" framework where these resources offset the allele's metabolic costs.

This case report details a child with a specific TNFAIP3 mutation manifesting as a severe SLE/SS phenotype, expanding the known phenotype for this genetic variant.

This study found no significant difference in CAG repeat numbers of the androgen receptor gene between Han Chinese women with female pattern hair loss and healthy controls, suggesting it may not be a genetic marker for FPHL in this population.

In this study, the researchers reported that finasteride's efficacy in treating female pattern hair loss in Japanese patients was not predictable based on CAG repeat numbers in the androgen receptor gene.

This review discusses genetic skin diseases in humans and animals, offering a resource for memorization and exploring animal models' role in understanding human disease mechanisms; it reports no new clinical results.