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This study found that hair from mice with the Naked trait mutation has significantly lower levels of glycine and tyrosine, suggesting a deficiency in a specific protein fraction.

In this study, specific genetic polymorphisms in the KRT71 gene were associated with hairless and curly phenotypes in Sphynx and Devon Rex cats.

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

This study found that oxidative damage is present in the mitochondria of PolG mice, which exhibit premature aging-like phenotypes due to mitochondrial dysfunction.

This case report identified a 6-month-old girl with congenital generalized hypertrichosis and gingival hyperplasia, where a de novo CNV on chromosome 17q24.2-24.3 was associated with reduced expression of ABCA5 and SOX9.

This study identified nine pathogenic variants in the PADI3 gene, and variants in the S100A3 and TCHH genes, which may disrupt protein function and contribute to central centrifugal cicatricial alopecia.

In this study, researchers found that specific genetic variations at loci rs1160312, rs6113491, and rs1041668 are independent risk factors for androgenetic alopecia in men, and these risks can be influenced by diet.

This study concluded that specific SNPs in the TRPS1 gene significantly alter its protein structure, affecting interactions and contributing to the development of congenital hypertrichosis.

This study identified nine pathogenic variants in the PADI3 gene and variants in the S100A3 and TCHH genes in patients with central centrifugal cicatricial alopecia, suggesting a broader genetic basis for the disease and potential targets for genetic testing and therapies.

This study identified a mutation in the steroid-binding domain of the androgen receptor gene associated with complete androgen insensitivity syndrome, impairing male sexual development due to altered androgen receptor protein function.

This study found that a 22-bp InDel polymorphism in the FGF7 gene was significantly associated with growth traits in goats, with genotypes ID and/or II linked to better growth compared to genotype DD, indicating its potential as a molecular marker in breeding programs.

This study found that certain VDR gene polymorphisms are more prevalent in female pattern hair loss patients than in healthy controls, suggesting these polymorphisms may increase disease risk.

This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.

This study found that the AMHR2-482A>G gene polymorphism is associated with an increased likelihood of polycystic ovary syndrome and altered hormone levels in affected women.

This study found that overexpressing PKCδ in transgenic mice did not reduce squamous cell carcinoma development induced by UV radiation, despite its effectiveness against TPA-promoted cancer in these mice.

In this study, 25% of CCHCR1-deficient mice exposed to stress developed hair loss similar to human alopecia areata, suggesting CCHCR1 is a susceptibility gene for the disease.

This study identified a nonsense mutation in the Sgkl gene as the cause of defective hair growth in a mutant mouse strain, implicating the SGKL signaling pathway in hair development.

This study found that K33A was significantly upregulated in lustrous Magra wool follicles, while other keratin and KAP genes showed downregulation, impacting wool's physical properties like luster.

This research identified two genetic variants that influence the white-spotted coat patterns in Holstein-Friesian cattle, involving regulatory changes in the MITF and KIT genes, confirmed through mouse models, along with possible effects on coat patterns in other cattle breeds.

This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.

This case report describes a male patient with aromatase deficiency, revealing that a c.628G>A mutation can lead to varied clinical features, such as low bone mass and normal metabolic profiles.

This study identified a new mutation in SELH/Bc mice causing distinctive whisker and body hair abnormalities, mapped near the type I keratin cluster on chromosome 11.

This study identified genetic variations in the DSG4 gene among sheep, revealing valuable markers for assessing their impact on wool traits.

This study reported that the IL1A 4-bp indel polymorphism is associated with a reduced risk of alopecia areata in Chinese populations, possibly through miR-122 mediated regulation of IL-1α expression.

In this study, researchers found that a specific genetic variant in the INSR gene is linked to severe insulin resistance and hyperandrogenemia in type A insulin resistance syndrome, suggesting the benefit of exon sequencing for accurate diagnosis and treatment.

This study reported that the anti-γc antibody hC2 restored hair follicle homeostasis and suppressed hair loss in an AA-like mouse model by inhibiting autoreactive T-cell activity, suggesting that hC2 may offer a safer and more effective treatment for alopecia areata compared to current Jak inhibitors.

In this study, researchers found that two dominant haplotypes in the EDA2R/AR intergenic region have likely been shaped by demographic changes and selection during human evolution, particularly notable in African and non-African populations.

This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.

This research observed that sheep and rabbit KAP6 genes, expressed in hair follicle cells, have high sequence similarity and indicate conservation due to evolutionary selection pressures.