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This study identified numerous size polymorphisms in the human ultrahigh sulfur KAP4 genes due to intragenic sequence variations, suggesting these polymorphisms may have arisen through deletions and duplications during evolution.

This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.

This study found a severe MBTPS2 gene mutation in a Japanese IFAP syndrome patient, suggesting other factors may influence the syndrome's clinical features compared to previously studied patients.

This study observed four consanguineous families with congenital atrichia with papular lesions and identified three novel mutations in the hairless gene, which may contribute to the disorder.

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.

In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.

This study concluded that allele-specific PCR (AS-PCR) is more reliable than tetra-primer ARMS-PCR for genotyping the SNP rs1998076 due to better stability and interpretability.

Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.

This article discusses the role of HR gene mutations in differentiating atrichia with papular lesions from alopecia universalis, but presents no new experimental results.

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 found that polymorphisms in the KAP8.2 gene in Chinese Inner Mongolia cashmere goats are associated with variations in cashmere fibre diameter, suggesting its potential as a molecular marker for this trait.

In this study, a missense mutation in the MAP2 gene was found to be associated with reduced hair follicle density, leading to the hairless phenotype in pigs.

This study found that specific SNPs in the CXCL1 and CXCL2 genes may be associated with increased susceptibility to alopecia areata in the Korean population.

This meta-analysis found that the rs2476601 SNP of the PTPN22 gene is significantly associated with reduced susceptibility to alopecia areata, with carriers of the C-allele and CC-genotype having a lower risk.

This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.

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.

In this study, researchers identified a novel and two previously reported pathogenic mutations in the HR gene associated with atrichia with papular lesions in five Pakistani families.

This study found that African American men with prostate cancer have higher rates of somatic and germline androgen receptor mutations than Caucasian American men, which may contribute to ethnic differences in disease progression and outcomes.

In this study, researchers detected all three genotypes associated with the MLPH gene's R199H polymorphism in a population of Czech pointer dogs, which is linked to coat color dilution.

This study found that specific PITX2 gene variants are significantly associated with higher risk of androgenetic alopecia in males, highlighting important genetic and environmental interactions influencing its development.

This study found that the R257X mutation in the AIRE gene is prevalent among Russian patients with autoimmune polyglandular syndrome type 1, particularly in those with hypoparathyroidism and chronic mucocutaneous candidiasis.

This study suggests that the T allele of the SNP rs2476601 in the PTPN22 gene may increase the risk of alopecia areata, although further studies are necessary to validate this finding across different populations.

This study identified two single-nucleotide polymorphisms and three haplotypes in the KRTAP7-1 gene across yak, taurine, and zebu cattle, with the BOVIN-KRTAP7-1*A haplotype most prevalent.

This study found that polymorphisms in the KAP8.1 gene were significantly associated with cashmere weight, length, and guard hair length in Chinese Inner Mongolian Cashmere goats, but not with fibre diameter.

In this study, researchers found that while the SNP rs6152 is strongly associated with androgenetic alopecia, the GGN triplet repeat is not, suggesting the causative variant is likely a non-coding one.

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 reported the genotypic and allelic frequencies of seven SNPs associated with androgenetic alopecia in Mexican individuals, highlighting significant differences in one SNP between cases and controls in Western Mexico.

In this case report, researchers identified a novel homozygous missense mutation in the MBTPS2 gene associated with the mild form of IFAP syndrome in a 7-year-old boy.

In this study, a novel E583V missense mutation in the hairless gene was identified in an Italian family with atrichia with papular lesions, reinforcing the significance of zinc-finger and LXXLL domains in this condition.