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A specific mutation in PA-PLA1α causes abnormal hair growth.

This study identified a significant genetic association between the TNFα gene and alopecia areata susceptibility in the Jordanian Arab population.

This study found that sheep possess a polymorphic KAP8-2 gene that shares high sequence identity with the KAP8-2 gene in goats and reindeer.

This study found that genes in the human keratin-associated protein 1 family may have evolved mainly through gene duplication of cysteine-repeat motifs.

This study identified a specific LIPH gene mutation (736T>A) as common in Japanese patients with autosomal recessive woolly hair/hypotrichosis, potentially indicating its role in the condition's manifestation within this population.

Some people have a genetic variation that makes them less effective at breaking down drugs.

This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.

This study in Italy found that APS-1, a rare disorder, is associated with various AIRE gene mutations and most individuals have autoantibodies such as IFNωAbs, which are markers of the condition.

This study found that men without prostate cancer carrying the A-allele of SNP rs1204038 had a 65% higher risk of PSA levels above 3 ng/mL compared to those with the G-allele, increasing referrals for further examination.

This study identified two novel genes, pmg-1 and pmg-2, expressed in various skin and gland tissues and potentially involved in the differentiation of epithelial cells in epidermal appendages.

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 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.

This study validated that the 20p11 genetic locus is associated with increased risk of androgenic alopecia in the Chinese Han population, suggesting shared genetic factors between Chinese and European populations.

This article reviews molecular and genetic mechanisms in the development of androgenic alopecia and examines the relationship between androgen receptor gene polymorphism and androgen-dependent diseases, but reports no new clinical results.

This study highlights that mutations in the MBTPS2 gene can lead to dermatological disorders like IFAP syndrome and severe bone diseases such as X-Linked Osteogenesis Imperfecta, emphasizing the significance of understanding these genetic variants for disease mechanisms and associations.

This study found that DEFB1 polymorphisms, specifically the rs1800972 CG and GG genotypes, may predict susceptibility to and severity of alopecia areata.

New mutations in the hairless gene may cause hair loss and affect bone development.

This chapter discusses phase transitions in various pharmaceutical examples and does not present any new research findings.

This review discusses the role of keratin-associated proteins in the growth and characteristics of wool and hair fibres from sheep and goats, and highlights areas for future research, but it presents no new findings.

In this study, nucleotide sequence variation in the KRTAP13-3 gene was associated with changes in heterotypic hair fibre diameter variation in Chinese Tan sheep.

This report describes a new case of syndromic ichthyosis caused by compound heterozygous mutations in AP1B1, detailing the associated clinical features and molecular consequences in the patient.

This case study reported the first diagnosis of IFAP syndrome in Brazil with molecular investigation, identifying a rare MBTPS2 gene variant and expanding the known mutational spectrum associated with the condition.

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 five unique sequences of the ovine KAP13-3 gene, with potential implications for wool traits due to observed amino acid changes.

This review assesses existing knowledge about the 17q21.31 inversion polymorphism, highlighting its genetic structure differences across ancestries, associations with various diseases, and implications for precision medicine and drug discovery.

This study suggests that the KAP 7 gene may serve as a potential molecular marker for genetic selection to improve staple length and greasy fleece weight in Rambouillet sheep.

This study found that a heterozygous missense mutation in ATR is associated with a hereditary cancer syndrome, manifested by oropharyngeal cancer and other anomalies, in an autosomal-dominant inheritance pattern across a five-generation family.

A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.

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.