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In this study, researchers found that loss of OGG1 in a mouse model of systemic lupus erythematosus increased IFN-driven immune responses and aggravated skin lesions, suggesting a protective role for OGG1 in SLE skin disease.

This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.

This review discusses the role of Sox2 in skin development, hair follicle regeneration, cancer, and wound healing, and reports no new experimental results.

A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

This report highlights a new genetic variant of Woodhouse-Sakati syndrome in two sisters from the first identified family case in Russia, emphasizing the varied manifestations of the disorder and the importance of genetic testing for diagnosis and patient-specific treatment planning.

This study found that inhibiting the interaction between HOTAIR and EZH2 can block pro-fibrotic gene expression in fibroblasts and interfere with tissue remodeling in systemic sclerosis patient skin.

In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.

This study found that desmocollin 1 is crucial for strong adhesion and barrier maintenance in the mouse epidermis, with its absence leading to skin and hair issues resembling chronic dermatitis.

This study concluded that specific SNPs in the TRPS1 gene significantly alter its protein structure, affecting interactions and contributing to the development of congenital hypertrichosis.

This study found that the gene BSSP, a serine protease, is predominantly expressed in sebaceous glands and is overexpressed in nude mouse skin.

This literature review reports that mutations in the SASH1 gene are linked to different pigmentation disorders, including dyschromatosis universalis hereditaria and lentiginosis. It further suggests SASH1's significant role in melanocyte processes and its potential as a target for developing treatments for these conditions.

This study found that the PSEN1-P242LfsX11 mutation in hidradenitis suppurativa influences cytokine and chemokine expression in macrophages, potentially affecting inflammatory responses.

This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.

This study found that BBS7 is crucial for maintaining Sonic hedgehog signaling activity and periodontal ligament homeostasis, with changes in gene expression observed in occlusal hypofunctional PDL.

This study found that the absence of Hes1 in hair follicles delays secondary hair germ activation and shortens the anagen phase, impacting HFSC self-renewal and long-term hair regeneration.

This study found that skin organoids derived from iPSCs with an HS-associated NCSTN mutation showed defects in hair follicle stem cell differentiation and increased expression of inflammatory proteins related to hidradenitis suppurativa.

This article reviews the regulation and roles of spermidine/spermine-N(1)-acetyltransferase (SSAT) in polyamine metabolism and its potential as a target in cancer and other diseases, without reporting new experimental results.

This study found that BBS7 is important for Sonic hedgehog signaling activity, which may be crucial for maintaining periodontal ligament homeostasis in occlusal hypofunction.

This study suggests that skin tumor cells in tuberous sclerosis complex may promote hamartoma morphogenesis by expressing and releasing higher levels of cathepsin B.

This study found that PSAT1 is a key regulator of cellular survival and regenerative capacity in cashmere goat hair follicle stem cells, highlighting its role in the SHF cycle and its potential as a target to boost cashmere fiber production.

This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.

This study found that in mice, LSD1 interacting with HSP90 accelerates skin wound healing by enhancing HFSC glycolytic metabolism, proliferation, and differentiation via the c-MYC/LDHA axis.

This thesis explores various aspects of Sox9, including its role in development, diseases, and as an immunohistochemical marker in animal tissues, but reports no new definitive clinical results.

This case report identifies a mutation in the TRPS1 gene, leading to the diagnosis of trichorhinophalangeal syndrome type I in a young girl and her family, highlighting the importance of detailed clinical and family history for proper diagnosis.

In this study, Dsc 1 was highly expressed in certain layers of fetal epidermis and hair follicle but not in basal cells or oral mucosa, indicating its potential role in maintaining epithelial integrity.

This study found that the absence of Sostdc1 in mice alters mammary gland and hair follicle development, particularly by increasing vibrissae numbers and causing unusual nipple-like structures.

Multiple mouse desmoglein 1 isoforms have distinct roles in skin and hair development.

This study identified a key Arabidopsis thaliana gene, TIP1, whose product is involved in S-acylation crucial for normal plant cell growth, particularly affecting root hair development.