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This study found that individuals with homozygous loss-of-function mutations in PLAAT3 experience a novel type of partial lipodystrophy linked to defects in white adipose tissue differentiation and function.

This study suggests that Merkel cell polyomavirus T antigen-positive cells resembling Merkel cell carcinoma may originate from epithelial cells in human hair follicles, potentially informing future transgenic mouse models for this cancer.

This study found that inhibiting AP-1 activity in mice can induce lineage transdifferentiation between squamous and sebaceous tumors, suggesting AP-1's role in maintaining tumor cell identity.

This study found a novel nonsynonymous genetic variant in the hHb1 gene of a family with monilethrix, which differs from ten previously reported pathogenic mutations.

This study found that Pygo2 is crucial for early intestinal hyperproliferation induced by stabilized β-catenin, suggesting it as a potential target for therapeutic intervention in cancers with β-catenin mutation.

In this study, researchers found that contrary to expectations, keratin 10 domains did not reduce cell proliferation and instead increased tumor development in genetically modified mice.

This study found that a single application of TCDD on the skin of hairless mice altered epidermal differentiation, changing keratin expression patterns similarly to a known tumor promoter.

New treatments may restore cancer-blocking proteins, slow prostate cancer, identify drug targets, and potentially regrow hair.

This study in a transgenic mouse model found that repressing overexpression of ornithine decarboxylase reduced papilloma development, indicating its role in tumor promotion sensitivity.

This study found that overexpression of the enzyme SSAT in a mouse model significantly reduced prostate tumor size and progression, suggesting it could be a promising strategy against prostate cancer.

This review discusses recent findings on molecular changes in cutaneous adnexal tumours and reports novel markers and pathways involved, highlighting the diverse oncogenic drivers and tumour suppressor alterations.

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 the first documented instance of epidermal nevus syndrome caused by a postzygotic KRAS G12C mutation in a three-year-old Japanese girl.

In this study, researchers discovered a dominant variant in the ADAM17 gene that causes hypotrichosis with woolly hair, where the mutation leads to hair follicle stem cell exhaustion and abnormal hair follicles, resulting in alopecia.

This study found that biallelic mutations in the TTC7A gene affect lymphocyte and gut epithelial cell function, thereby contributing to the development of inflammatory bowel disease in patients.

SPRY1 deficiency in skin cells causes stem cells to move to the skin surface, leading to increased pigmentation.

In this study, injecting chimeric RNA–DNA oligonucleotides into mice skin caused a temporary mutation in keratin 17, altering hair morphology, but the mutation was transient due to genetic compensation or cell replacement.

This study found that the mutation Glu402Lys in keratin hHb6 may be associated with monilethrix, and homozygous patients in a consanguineous family exhibited more severe symptoms.

Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.

This study found that the TLR3 L412F genetic variant is associated with severe viral infections, especially CMV, and immune dysfunction in a subgroup of chronic mucocutaneous candidiasis patients.

This study found that chromosomal microarray analysis identified copy number variations in 12% of patients with dysmorphic features and congenital anomalies, demonstrating its potential as a diagnostic tool, especially for rare CNVs and immune deficiency linked to the deletion of CTLA4.

This study reports that high expression of proteins ST14 and TMEFF1 in ovarian cancer correlates with higher tumor malignancy and worse prognosis, and reveals an interaction where ST14 regulates TMEFF1 to promote cancer cell proliferation, migration, and invasion.

In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.

This study identified mutations in the SNRPE gene that may disrupt hair growth, linking a spliceosome component to hereditary hair loss disorders.

This study identified a novel LZTR1 mutation associated with hybrid schwannoma and neurofibroma in a patient with schwannomatosis, but not all cases of hybrid tumors are linked to this condition.

This study found that P311 triggers transdifferentiation of epidermal stem cells into myofibroblast-like cells via TGFβ1/Smad signaling during wound healing.

This study identified a new pathogenic variant, c.1081G>T; p.(Glu361*), in the KRT31 gene as a cause of autosomal-dominant monilethrix, highlighting the role of hair keratin proteins in hair and nail tissue disorders.

This study identified novel compound heterozygous mutations in the hairless gene among a non-consanguineous Chinese family with congenital atrichia, illustrating phenotypic variations due to founder or modifier genes.

This study suggests that loss of DMBT1 and galectin-3 expression may contribute to the development of epithelial skin cancers, indicating potential tumor-suppressive roles in this context.