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This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.

This study identified a mutation hotspot in the caracul (Ca) locus of mice, implicating the mK6irs1/Krt2-6g gene in hair formation and potentially human hair and skin diseases.

This study found that a mutation in the seventh exon of the KRT86 gene plays a major role in the pathogenesis of monilethrix in a Chinese family.

This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.

In this study, researchers analyzed skin tumors from patients with CYLD cutaneous syndrome and found that loss of CYLD function is linked to changes in cellular signaling pathways, particularly NF-κB signaling, and leads to increased secretion of specific extracellular matrix proteins.

This study found that increased ACE2 expression, prompted by mechanical stretch, promotes skin regeneration and reduces dermal thinning during tissue expansion by enhancing collagen synthesis, suggesting ACE2's potential to improve clinical outcomes in reconstructive surgery settings.

This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.

This study reports the first case of diverse medium-sized visceral arterial aneurysms in a patient with functionally impaired A20, potentially linked to HA20, and its atypical presentation in East Asia.

New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.

This paper offers detailed tables of genotypic and phenotypic data on horses, including markers, variants, and haplotypes, but reports no new research results.

This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.

This study found that overexpressing FGF22 in dermal papilla cells enhanced hair follicle stem cell proliferation and viability, while its knockout reduced these attributes, indicating its role in hair follicle regeneration.

This case report details a 17-year-old girl with systemic lupus erythematosus and recurrent infections linked to a complete isolated Clq deficiency.

This study identified a novel missense mutation in the hairless gene in a Polish family, which may contribute to congenital atrichia with papular lesions by affecting the gene's function.

This study identified Th22 cells as key effectors in hair regeneration driven by thymosin beta 15, suggesting they could be potential targets for hair regrowth therapies.

This study concluded that neither basal nor ACTH-stimulated 17-OHP concentrations effectively indicate carrier status for 21-hydroxylase deficiency among Slovenian hyperandrogenic women, recommending molecular analysis of the CYP21 gene for reliable screening.

This case report describes the first instance of juvenile hemochromatosis type 2A associated with secondary hypothyroidism, linked to a novel mutation in the HJV gene.

In this study, a genetic analysis identified a pathogenic variant in the ALOXE3 gene associated with non-bullous congenital ichthyosiform erythroderma, and the patient's response to antifungal treatment highlights the risk of cutaneous fungal infections.

This study identified two novel point mutations in the hHb6 gene associated with monilethrix, suggesting these mutations could serve as diagnostic markers for this genetic hair disorder.

In this study, researchers identified a cluster of hair-specific keratin-associated protein genes within the 21q22.3 region, revealing a novel transcription mechanism involving TSPEAR/C21orf29 that may bypass typical transcriptional termination sites.

This review discusses the pathophysiology, diagnosis, and treatment of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency and provides no new clinical results.

This study identified a cluster of genes on chromosome 17 related to hair keratin-associated proteins, including 37 genes forming seven multigene families, localized in the hair shaft's upper cortex.

This study developed new immortalized keratinocyte cell lines lacking COL7A1 using CRISPR/Cas9 technology, providing a valuable model to explore the biology and treatment options for recessive dystrophic epidermolysis bullosa.

In this study, genetic variation in the CYP19A1 gene, particularly the common rs4646 C allele, was associated with an increased risk of female pattern hair loss, especially in women under 40.

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 found that apocynin restored COL17A1 expression in human keratinocytes and reduced UVB-induced cellular senescence, DNA damage, and cell cycle arrest.

This study found no significant difference in the prevalence of CYP21A2 mutations between couples with unexplained fertility problems and healthy controls, but identified an association between the c.290-13A/C>G mutation and clinical issues like hormone deviations and polycystic ovary syndrome.

This study is the first to identify a de novo heterozygous frameshift insertion variant in the ARID1B gene as a cause of Coffin-Siris syndrome with an association to excessive early-onset high myopia.