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This study suggests that disruptions in the Ran system related to nuclear transport may be a key factor in the development of cellular issues in Hutchinson Gilford Progeria Syndrome.

This study found that mice with a mutation in the Zdhhc13 gene exhibited increased susceptibility to skin cancer, highlighting a potential protective role of palmitoyl acyltransferase in skin carcinogenesis.

This study found that elevated luteinizing hormone levels were significantly associated with female pattern hair loss, and implicated LH/LHR signaling in the aging and damage of hair follicles.

This study identified KLHL24 as a new gene linked to a subtype of epidermolysis bullosa simplex, highlighting its role in unresolved cases by involving a degradation-resistant truncated protein impacting keratin turnover.

This study characterized hair from a patient with a ribosomopathy and identified distinct differences, including reduced hair thickness and lipid content, compared to family members.

This study identified a novel E413K mutation in the hHb6 gene in a Chinese Han family with monilethrix, potentially linked to the characteristic moniliform hair structure.

This review discusses genetic mutations associated with Hutchinson-Gilford progeria syndrome and reports no clinical results; the authors emphasize the importance of cardiovascular monitoring in management.

This study identified a mutation in the KRTHB6 gene in two monilethrix families of Indian origin, linking specific genetic variations to different severities of hair defects within the families.

This study found that deleting the Mof gene in mouse skin leads to severe defects in skin cell self-renewal, differentiation, and hair follicle growth, indicating that MOF is crucial for mitochondrial and ciliary gene expression and essential for skin development.

This case report describes the histopathological features of nevus psiloliparus in an 11-year-old girl, noting "shadow" follicular units with loosely arranged collagen and reduced elastic fibers.

This study identified four novel DSG4 mutations associated with monilethrix in 12 Jewish families, suggesting a recessive inheritance pattern and broader prevalence of DSG4-related hair disorders than previously recognized.

This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.

A gene deletion in DSG4 causes sparse hair in some Pakistani families.

In this study, transgenic mice with a truncated latent transforming growth factor-beta-binding protein showed reduced keratinocyte proliferation and alterations in the hair cycle due to mis-localization of transforming growth factor-beta.

Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.

This study found that a specific T-cell receptor motif associated with lipid-antigen stimulation may play a role in the pathogenesis of folliculotropic mycosis fungoides.

This study suggests that lipin-1 plays a crucial role in keratinocyte differentiation by modulating protein kinase C activity through diacylglycerol levels, with implications for skin biology.

This study identified that a deficiency in the palmitoyl transferase enzyme, due to a mutation in the Zdhhc13 gene, led to severe physiological abnormalities in mice, including skin, bone, and systemic amyloid issues.

This report discusses a potentially underdiagnosed form of multisystem Langerhans cell histiocytosis in infants, demonstrating the use of thymic sonography for staging, highlighting a case where thymic and cutaneous involvement was confirmed, and suggesting thymic ultrasound may aid in better diagnosis and management of LCH.

This study describes a genetic mutation in the desmoglein 4 gene linked to localized autosomal recessive hypotrichosis in Pakistani families, showing similarities to animal models with similar hair loss conditions.

This study found that the fuzzy mutation in mice is linked to both structural hair defects and accelerated hair follicle cycling, influencing the regulation of hair cycle phases such as catagen and anagen.

In this study, researchers found that mosaic PLCD1 hotspot variants, even without the recognized germline "risk allele," may be a rare but significant genetic cause of nevus trichilemmocysticus, warranting DNA testing and sensitive sequencing technologies for accurate diagnosis.

Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.

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.

This case report describes a 6-year-old girl diagnosed with monilethrix, experiencing hair fragility and loss after a fever, and showing improvement in hair density following treatment, despite persistent symptoms.

This study found that a nonsense mutation in the Cst6 gene of mice leads to severe skin and hair abnormalities, suggesting that cystatin M/E is crucial for epidermal function and viability.

This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.

This report presents two cases of Berardinelli–Seip syndrome, emphasizing the role of genetic analysis and comprehensive care in managing the variability and complications of this rare condition.

This study identified novel mutations in the DSG4 gene in a Japanese patient with monilethrix, affecting protein interactions that may disrupt hair shaft structure.

This report identified a family of Iranian siblings with diverse clinical forms of Lichen Planus, suggesting potential genetic and environmental involvement in its pathogenesis.