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In this study, researchers found that androgen receptor gene polymorphism is associated with higher androgenetic alopecia grades and PSA levels in men with benign prostatic hyperplasia, but not with prostate cancer.

This study found that among women with PCOS, the FokI CC genotype of the VDR gene may offer protection against acne and seborrhea, while the VDR-TaqI dominant genotype is associated with reduced oxidative stress.

This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.

This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.

This study found that TCF7L2 gene polymorphism is linked to alopecia areata, but no significant difference in treatment outcomes was observed between PRP and conventional therapy among different genotypes.

In this study, researchers found no significant association between selected CYP19A1 and ESR2 gene SNPs and female androgenetic alopecia in the Polish population studied.

This study found that a specific VDR amino acid substitution in children with hereditary vitamin D-resistant rickets disrupts ligand binding and gene activation but does not impair hair follicle development.

In this case report, a novel heterozygous mutation in the insulin receptor gene was identified in an adolescent girl with type A insulin resistance syndrome, characterized by excessive hair growth and skin changes, and her mother.

This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.

This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.

This study found that the JAK1 rs310241 AG genotype is associated with a 4.6-fold increased risk of alopecia areata, whereas JAK2 polymorphisms showed no significant link, suggesting a potential genetic susceptibility factor warranting further research.

This study found that a novel missense mutation in the vitamin D receptor caused hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia by disrupting protein function, highlighting the importance of DNA binding in hair development.

This study found that the N363S variant of the glucocorticoid receptor was rare among women with PCOS and did not significantly contribute to genetic risk for PCOS or adrenal androgen excess.

This study identified a novel KRT86 mutation associated with autosomal dominant monilethrix, expanding understanding of its genetic basis beyond known motifs.

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.

In this study, researchers identified a novel homozygous variant in the FAM83G gene responsible for autosomal recessively inherited palmoplantar keratoderma with curly hair in a consanguineous Pakistani family, suggesting FAM83G plays a crucial role in skin and hair homeostasis.

In this study, a novel heterozygous transition mutation in the KRT86 gene was identified, which may be pathogenic for monilethrix in a Chinese family.

This study found that the less common CAG-rs4045402 and GGN-rs3138869 polymorphisms were more frequent in patients with post-finasteride syndrome and androgenetic alopecia, suggesting a genetic predisposition to AGA development.

In this study, eight patients with hereditary vitamin D-resistant rickets who share a specific VDR mutation showed improved clinical symptoms except alopecia after up to 11 years of treatment.

In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.

This study found that disruptions in planar cell polarity signaling are implicated in congenital heart defects and cardiomyopathy in developing mouse hearts, associated with early cardiomyocyte disorganization and improper heart looping.

This study found that the rs1128977 SNP in the RXRG gene may be linked to altered clinical characteristics such as higher HDL-cholesterol levels and increased body mass index in individuals with dyslipidemia.

This research observed that the skeletal abnormalities in Noggin null mice varied based on genetic background, and identified haploinsufficiency leading to joint fusions, similar to human conditions associated with NOGGIN deficiency.

This case report documents the first confirmed mutation-proved instance of Clouston syndrome in a large Chinese-Malaysian family, linked to the c.263C>T (A88V) mutation in the GJB6 gene, with no available treatment but highlighting the importance of genetic counseling.

This study identified a 582-bp deletion upstream of LHX2 in cashmere goats, likely linked to hair follicle development and cashmere production, providing insights into genetic factors in cashmere trait selection.

This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.

This is the first report of the FOXN1 p.R255X mutation from India, demonstrating the global spread of this genetic mutation previously found only in an Italian community.

This study found that isozyme profiles in polyoma virus-induced tumors were consistent and distinctive for each tumor type, except for salivary and mammary tumors which shared a profile.