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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 expression is crucial for maintaining Sonic hedgehog signaling and periodontal ligament homeostasis in occlusal hypofunctional conditions.

This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.

This report identified three novel genetic mutations associated with congenital ichthyosis in Italian newborns and emphasized the importance of next-generation sequencing for personalized patient management.

This study on Qatari patients with Woodhouse-Sakati syndrome highlights the high incidence and diverse clinical presentation due to a specific genetic variant, emphasizing early diagnosis for effective management.

This article reviews the roles of lesser-known secreted phospholipase A2 isoforms in various biological processes, such as immune suppression, metabolic regulation, epidermal hyperplasia, and male reproduction, without reporting new clinical findings.

LIPH mutations cause woolly hair in some Chinese people.

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

Type I and Type II keratin chains can form heterodimers despite sequence differences.

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.

This review examines the role of SET7/9 in non-histone methylation and its implications in various diseases, including cancer, but presents no new clinical results.

This study identified compound heterozygous mutations, c.1101del and c.736 T > A, in the LIPH gene responsible for causing autosomal recessive woolly hair in a child, with c.1101del being a novel frameshift mutation.

In this case report, the authors describe a partial androgen insensitivity syndrome patient with a novel AR gene mutation, highlighting challenges in gender assignment decisions for infants with partial AIS.

This study suggests that deregulation of sonic and desert hedgehog signaling in mouse skin can lead to altered epidermal stem cell activity and lesions similar to human basal cell carcinoma, indicating these cancers may originate outside the stem cell population.

This study found that NKIRAS2 expression affects skin tumor suppression and HRAS-driven transformation in mice, indicating its role in carcinogenesis depends on expression level and cellular context.

In this study, researchers found that knocking down the transcription factor Csdc2 inhibited the proliferation of dermal papilla cells in cashmere goats, and identified its regulatory relationship with the gene Robo2, providing insights into the genetic mechanisms influencing cashmere fiber growth.

This study suggests that targeting the increased expression of SIX1 in systemic sclerosis may be a viable strategy for addressing dermal fibrosis.

Mutations in the hHb6 gene cause the hair disorder monilethrix.

hHb1, hHb3, and hHb6 mRNAs start expressing at the same time in hair follicles.

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 identified a novel human type I hair keratin, hHa3-II, as an isoform of a previously described hHa3 keratin, with distinct sequence differences indicating separate gene encoding.

In this study, high expression of S100A4 in glioblastoma was associated with worse patient survival and promoted tumor progression by enhancing pro-tumorigenic vascular functions.

This study found that BBS7 downregulation in occlusal hypofunctional PDL affects Sonic hedgehog signaling activity, impacting PDL homeostasis.

CD206+ macrophages are crucial for hair growth in alopecia areata treatment.

This study suggests that the NCSTN knockout mouse could serve as an HS animal model, with tamoxifen potentially used for gene deletion in mice.

This study in mice suggests that defects in hair follicles with mesenchymal TSC2 disruption may result from an impaired TGFβ1 response, indicating a potential novel treatment approach for tuberous sclerosis complex.

This abstract provides a graphic illustrating that mice lacking the Sgk3 gene exhibit thin coats and abnormal hair, suggesting a role for Sgk3 kinase in hair follicle growth, but reports no new experimental findings.

This study identified a crucial Gli2-Serpinh1 regulatory axis that regulates fibroblast state transitions during skin wound healing, shedding light on fibroblast heterogeneity and suggesting potential precision regenerative therapies.