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This study identified a novel genetic mutation, c.429delC in the hairless gene, associated with atrichia with papular lesions in two Pakistani families.

In this study, genetic testing confirmed the diagnosis of Androgen insensitivity syndrome in most CAIS patients in Tunisia and identified two previously unreported mutations in the androgen receptor gene.

This article reviews the current FDA-approved treatments for severe pediatric alopecia areata, including the use of Janus kinase inhibitors, but reports no new clinical findings.

This report describes a novel AR gene mutation in a female patient, contributing to androgen insensitivity syndrome, and emphasizes its potential impact on genetic counseling.

This study found that innate lymphoid cells-type 1 can induce alopecia areata characteristics in human hair follicles both ex vivo and in vivo, challenging the view of it as solely an autoimmune disease driven by CD8+ T cells.

This research suggests that defects in keratinocyte differentiation due to putrescine accumulation in SSAT transgenic mice lead to skin changes and hair loss, and reducing putrescine can promote hair regrowth.

This study found that the AR-E211 A allele is associated with a lower risk of both metastatic prostate cancer and androgenetic alopecia in an Australian population.

A novel mutation in the SLC39A4 gene was identified in an infant with mild, incomplete acrodermatitis enteropathic symptoms, suggesting genetic testing is beneficial even without the full symptom triad.

HDAC1 is crucial for skin development and preventing tumors.

In this case report, researchers observed a Slovakian neonate with a rare EGFR genetic mutation who presented with severe neonatal dermatoses, ichthyosis, and multisystem complications, emphasizing the significance of genetic diagnosis for such complex conditions.

This study found that pelage abnormalities in Harlequin mutant mice are linked to severe AIF deficiency and associated with altered expression of genes related to hair structure.

This study found that blocking LFA-1 signaling completely prevented the development of alopecia areata in C3H/HeJ mice, suggesting that LFA-1 plays a crucial role in the disease's pathogenesis and could be a target for new therapies.

This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.

This article reviews genetic and phenotypic aspects of androgen insensitivity syndromes, emphasizing the diversity of mutations that complicates molecular screening and the importance of genotype-phenotype correlations.

In this study, D6D knockout mice showed severe deficiency in AA and DHA, leading to unexpected effects on skin health, fertility, and immune cell development.

This study found that Aire‒/‒ mice spontaneously developed persistent AA-like lesions, highlighting a potential role for AIRE in hair follicle biology and pathogenesis of alopecia areata.

This study reports the first case of atrichia with papular lesions in a Taiwanese family without a detectable mutation in the HR gene.

In this study, researchers found that the AIRE G961C variant is a significant risk factor for severe alopecia areata and early-onset cases, particularly in patients with alopecia universalis.

In this study, researchers found that the NUDT15 R139C gene variant is a significant genetic risk factor for azathioprine-induced severe myelotoxicity in Japanese patients with dermatological conditions, suggesting that screening for this variant may help prevent adverse reactions in East-Asian populations.

This study suggests that specific mutations in the MFN2 gene, including the p.Arg707Trp allele, can result in tissue-selective mitochondrial dysfunction leading to excessive upper body fat growth and low leptin levels.

This study observed that the SREBF1 mutation c.1669C>T (p.Arg557Cys) may act as a recurrent hotspot mutation associated with both hereditary mucoepithelial dysplasia and autosomal-dominant ichthyosis follicularis with atrichia and photophobia syndrome, suggesting they may be on the same clinical spectrum.

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.

In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.

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.

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 reports that two mouse models of scarring alopecia exhibit similar patterns of hair loss progression despite histological differences in inflammatory cell localization and MHC class I expression.

This review discusses how the HSD3B1(1245C) genotype may impact androgen physiology and the progression of castration-resistant prostate cancer, and does not report new experimental results.

Certain gene variations in EGF and EGFR may increase the risk of alopecia areata in Koreans.

This study found that mimicking the XPD point mutation in mice resulted in trichothiodystrophy-like symptoms, supporting the role of basal transcription and DNA repair defects in the disease.

This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.