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This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.

This letter reports the first known Japanese case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene.

This study identified a new gene involved in woolly hair by linking a homozygous variant in KRT25 to autosomal recessive woolly hair in two Pakistani families.

This case report described two siblings with uncombable hair syndrome characterized by unique hair features, and identified a new pathogenic variant in the PADI3 gene (c.1374dup; p. Val459ArgfsTer15) not previously documented.

In this study, researchers identified genetic variants in the PCCA and PRLR genes that are significantly associated with hair coat length in Brangus heifers, potentially contributing to more thermotolerant cattle.

This study found that polymorphisms in KRTAP13.1, KRTAP27-1, and KRTAP24-1 were significantly associated with fiber diameter in Jiangnan cashmere goats, which may aid future breeding and conservation efforts.

This study observed wide clinical diversity among five patients with the same VDR gene mutation causing vitamin D-dependent rickets type II, suggesting involvement of a nuclear accessory factor and a nongenomic action of the vitamin.

This study identified specific genetic variations associated with polycystic ovarian syndrome in Karnataka, which may help improve diagnosis and treatment.

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 review highlights the potential of integrating point-of-care testing with allele-specific amplification techniques like AS-PCR, AS-LAMP, and AS-RPA to improve the efficiency, accuracy, and affordability of genotyping single nucleotide polymorphisms associated with human diseases.

This study outlines the Human Gene Correlation Analysis tool, which classifies human genes by coexpression levels and identifies overrepresented annotation terms in correlated gene groups, with no new clinical results reported.

This study found that the MTHFR gene C677T mutation appears to be a susceptibility factor for alopecia areata in the Turkish population.

In this study, the rs4541843 G > A variant was found to be significantly associated with increased risk and severity of alopecia areata, as well as elevated expression of hsa-miR-182-5p, suggesting their potential as molecular markers for diagnosis and severity assessment.

This study in Gansu alpine fine-wool sheep identified two SNPs in the KRT71 gene that significantly affect wool length, with distinct expression patterns observed in hair follicles, suggesting KRT71 as a candidate gene for enhancing wool production traits.

This study mapped the curly mutation in mice to a specific region on chromosome 11, identifying it as a candidate model for studying human genetic hair disorders.

In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.

This study identified novel compound heterozygous mutations in the hairless gene among a non-consanguineous Chinese family with congenital atrichia, illustrating phenotypic variations due to founder or modifier genes.

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

In this study, researchers identified CENPV as a new CYLD interacting partner that localizes to primary cilia and regulates acetylated tubulin levels, offering insights into the pathogenesis of skin appendage tumors.

This study identified 11 previously unreported ABCA12 variants associated with varying severities of autosomal recessive congenital ichthyoses and expanded the phenotype spectrum of ichthyosis linked to these variants.

This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.

This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.

This study found that Naked trait mice exhibit a decrease in certain low-molecular-weight proteins in their hair, which contain high levels of glycine and tyrosine, compared to normal mice.

This study found that Atlantic croaker nuclear androgen receptors AR1 and AR2 have different binding affinities for androgens, suggesting that they may mediate distinct physiological actions in teleosts.

This study provides suggestive evidence that duplications in the MCHR2 gene may be involved in the pathogenesis of alopecia areata.

This review discusses the role of CYP gene polymorphisms in exacerbating hyperandrogenism in women with PCOS and reports no clinical results; further validation of this hypothesis is needed.

This study suggests that the ADIPOQ gene polymorphism may influence the risk of alopecia areata in Egyptians, with adiponectin levels potentially serving as a marker for hair loss severity.

This study suggests that hereditary hyperplastic gingivitis in silver foxes may involve the MAPK signaling pathway, with potential androgen effects influencing disease severity.

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.