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In this study, analysis of over 800 Iranian patients with epidermolysis bullosa identified 15 with pathogenic PLEC variants, highlighting a correlation between variant locations and phenotypic manifestations of plectinopathies.

This study suggests that basal cell carcinoma and trichoblastoma may share differentiation toward the hair follicle, as indicated by strong positivity in CK 15, follistatin, and Bmi‐1 markers.

In this study, PKC ε transgenic mice exposed to ultraviolet radiation showed increased hair follicle stem cell frequency and altered gene expression compared to wild-type mice, suggesting a potential role in skin cancer susceptibility.

This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.

In this study, a novel heterozygous transition mutation in the KRT86 gene was identified, which may be pathogenic for monilethrix in a Chinese family.

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 study, researchers sequenced the KRT71 gene in 102 dromedary camels to find genetic polymorphisms linked to hair shape, identifying 17 variants but none that fully explained hair shape variations, suggesting other genes may also play a role.

This article discusses the human KRT72 wild-type allele's role in hair formation and reports no new research findings.

This study found that CD2 could be a potential new therapeutic target for treating patchy-type alopecia areata, suggesting the need for further research into its role.

This study analyzed the genetics of the patchiness phenotype in New Zealand rabbits and found that the gene KRT82, with identified SNPs in its promoter, may serve as a potential biomarker for breeding these rabbits.

This study found that specific Y-chromosome alleles may influence susceptibility to prostate cancer in Iraqi males, suggesting their potential use in screening for the disease.

This study identified a specific SNP in the CACNB4 gene associated with a higher risk of chemotherapy-induced alopecia in breast cancer patients, which may help develop interventions to improve their quality of life.

This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.

This study indicates that ABCG2 expression identifies interfollicular keratinocyte progenitor cells in human epidermis and suggests it could help enrich these stem cells for research and treatment.

This study reports that the acidic and basic keratin gene clusters in dogs are located on chromosomes CFA9 and CFA27, respectively, similar to genetic arrangements in humans and mice.

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

This study found that bulge-derived keratinocytes from human follicles were more resistant to differentiation compared to epidermal keratinocytes, possibly due to WIF-1 involvement.

This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.

In this study, novel mutations in the BTD gene were identified in a patient with profound biotinidase deficiency, highlighting the importance of biotinidase activity measurement and mutation analysis for early diagnosis.

This research identified that the constitutive and inducible expression of the Keratin 6 gene in transgenic mice skin is controlled by multiple regulatory elements spread throughout its 5' flanking region.

This study analyzed blood samples from individuals with alopecia areata and found that NKG2D+ immune cells, particularly memory-like NK cells, may better correlate with disease activity compared to CD8+ cells, though significant variability among individuals complicates these findings.

CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.

This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.

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

In this study, researchers identified seven new genetic loci associated with prostate cancer susceptibility through a multi-stage genome-wide association study.

This study found that patients with the MITF p.E318K variant are more likely to develop multiple primary melanomas and dysplastic nevi with uncommon dermoscopic patterns compared to non-carriers.

This study found that altering cyclin-dependent kinase 4 (CDK4) levels in the bulge region of hair follicles affects the balance of stem cell numbers, potentially influencing hair follicle self-renewal and proliferation.

This study identified the expression sites of five KAP5 genes on human chromosome 11q13.5 in scalp skin sections but did not explore their detailed distribution within hair follicles.