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This study found that mutations in the PADI3 gene, which is important for hair shaft formation, may contribute to central centrifugal cicatricial alopecia among patients.

CCCA may be a fibroproliferative disorder, and anti-fibrotic therapies could help.

This case report identified a 6-month-old girl with congenital generalized hypertrichosis and gingival hyperplasia, where a de novo CNV on chromosome 17q24.2-24.3 was associated with reduced expression of ABCA5 and SOX9.

This case report highlights the association of three CX26 gene mutations, particularly the D50N mutation, with keratitis–ichthyosis–deafness syndrome and its potential role in scalp squamous cell carcinoma and breast cancer development in a patient.

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.

Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.

This study found that targeting CISD1 with the compound NL-1 reduced mitochondrial dysfunction and reactive oxygen species accumulation, protecting against cisplatin-induced hearing loss in cell models and mice, without affecting cisplatin's cancer-fighting effectiveness.

This report describes early and late stages of central centrifugal cicatricial alopecia in two Black women, highlighting progression from a small to a large central patch of hair loss.

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 emphasizes the genetic component of central centrifugal cicatricial alopecia, highlighting an atypical case involving an adolescent male within an African-American family.

This study found that notch1 signaling is severely impaired in hidradenitis suppurativa patients with or without NCSTN or other gamma-secretase gene mutations, highlighting a canonical defect at the lesional tissue level.

This case report highlights that CCCA can present with multifocal patchy hair loss in younger men of African descent, suggesting the need for careful evaluation when diagnosing atypical alopecia patterns.

This study presents evidence that keratitis–ichthyosis–deafness syndrome is caused by a mutation in the connexin 26 gene, expanding the gene's known involvement in various disorders.

This study observed that β-catenin overexpression in human squamous cell carcinoma cells led to increased CREB expression, which significantly enhanced clonogenic activity, suggesting CREB as a β-catenin-regulated factor promoting cancer characteristics.

This case study highlights the importance of an integrated diagnostic and treatment approach for children with rare genetic disorders, as demonstrated in a 10-year-old girl with CNOT3 syndrome, characterized by symptoms like mental retardation, gastrointestinal issues, and unique facial features.

This study found that UC.145 influences DKK1 methylation and Wnt signaling in gastric cancer, with implications for patient survival and its potential as a predictive biomarker.

This study found that Cutl1 mutant mice experienced retarded lung differentiation and abnormal hair follicle morphogenesis, indicating the vital role of CDP in lung development and hair follicle cell-lineage specification.

A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.

This review discusses the calcineurin/NFAT pathway's role in cutaneous squamous cell carcinoma, noting its involvement in tumor development, skin cell behavior, and the tumor microenvironment; it reports no new results.

This study found that BNC2 is critical for hair follicle regeneration and other developmental processes, as Bnc2−/− mice exhibit incomplete hair follicle development and developmental defects, and BNC1 cannot substitute for BNC2.

This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.

Hair shaft changes may be linked to CCCA, but their role is unclear.

This review discusses the role of the CXXC5 protein as a transcription factor and signaling coordinator, noting its involvement in embryonic development, tissue homeostasis, and diseases such as tumorigenesis, but reports no new experimental findings.

This study found that mice with a mutant CDP/Cux protein lacking the homeodomain showed severely impaired growth, high postnatal mortality, and reduced fertility, highlighting CDP/Cux's role in developmental regulation.

This study identified a subpopulation of neural crest-derived progenitor cells in human corneal endothelial tissue from normal and Fuchs endothelial corneal dystrophy donors, which may have potential for future cell therapy development.

This review discusses central centrifugal cicatricial alopecia in adolescents, noting varied presentation and highlighting genetic and environmental factors, but reports no new clinical findings.

This study identified NM_026333 as a potential anti-aging gene that, when induced, may alleviate proton-induced aging symptoms in CF6-overexpressing and high salt-fed mice.

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.

Genetic changes in specific proteins contribute to hair loss in some women of African descent.

In this case report and literature review, researchers identified a novel mutation in the CLDN1 gene linked to neonatal ichthyosis-sclerosing cholangitis syndrome and found that its phenotype varies widely, suggesting a multidisciplinary approach is crucial for management.