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In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.

In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.

This study found that the miR-140-y-TCF4 axis regulates the proliferation of goose embryonic dermal fibroblast cells by affecting the Wnt signaling pathway, highlighting its role as a dynamic regulator during skin and feather follicle development.

In this study, single nucleotide polymorphisms in the RAB5B gene were linked to an increased risk of polycystic ovary syndrome and associated with specific microRNA binding sites.

This study analyzed circular RNA expression in the developing skin of foetal Gansu Alpine fine-wool sheep, identifying key circRNAs potentially involved in secondary follicle development through regulatory networks, providing insights for wool trait improvement.

This study found that self-noncoding dsRNA activates TLR3 to stimulate intrinsic retinoic acid synthesis, promoting new hair follicle formation in wounded mice and showing similar gene expression changes in humans treated with rejuvenation lasers.

This study examined the role of long non-coding RNAs in wool fineness among Gansu alpine fine-wool sheep, identifying specific lncRNAs and target genes that may enhance wool quality.

This study found that the truncated hHb1-DeltaN transcript in breast cancer cells is produced by a cryptic intron promoter and responds to DNA demethylation, potentially altering cancer cell adhesion.

This study identified a new cis-regulatory element in the mouse Hr gene that influences its expression in skin and brain cells, highlighting a complex molecular network involved in hair follicle formation.

This study found that single-nucleus RNA sequencing identified more relevant keratinocyte clusters and specific markers than single-cell RNA sequencing, offering a new perspective on skin cell differentiation and function.

This study reports that the recombinant expression vector pcDNA3.1-KK demonstrates specific expression in the skin of newborn mice.

In this study, the Foxn1(-/-) nude phenotype was associated with an altered regulation of epithelial progeny in skin, offering a valuable model for investigating stem cell niche maintenance and regulation.

This study found that FOXN1 haploinsufficiency is a significant genetic factor causing T cell lymphopenia at birth, linked to reduced thymic function in both humans and mice.

This study found that overexpression of the lncRNA AL136131.3 may inhibit hair shaft growth and promote hair follicle apoptosis in androgenetic alopecia by influencing key metabolic pathways.

This study found that Plakophilin 1 regulates innate immune responses in keratinocytes by controlling RNA helicase activity, balancing inflammation during epidermal immune challenges.

This study found that the microRNAs oar-miR-23b and oar-miR-133 inhibit the proliferation and migration of sheep dermal fibroblasts, impacting the development of hair follicles in superfine wool sheep by targeting the genes TGFβ2 and NOTCH1.

This study identified an unexpected critical role for the FATP4 protein in skin and hair development in mice, linking it to a potential candidate gene for restrictive dermopathy in humans.

In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.

This study found that TLR3-mediated damage sensing can stimulate prostaglandin and Wnt pathways, potentially coordinating hair follicle regeneration in mice with large skin wounds.

This study found that a specific genetic mutation in the Fgf5 gene may contribute to the long-hair trait in Angora rabbits by reducing the binding capacity of the FGF5 protein.

This study found that conditional deletion of Mof in mice resulted in severe defects in skin development, including compromised epidermal differentiation and hair growth, leading to perinatal lethality.

This study identified differentially expressed mRNAs and lncRNAs in Hu sheep hair follicles, suggesting certain genes and pathways are involved in the development of wool curvature patterns.

This study found that the Wnt10b gene promotes, while the SFRP2 gene inhibits, hair growth in Wanxi Angora rabbits, influencing the hair growth cycle and follicle regeneration.

This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.

This study found that ROR2 plays a crucial role in the regulation of hair follicle stem cell self-renewal and maintenance, particularly by compensating for the absence of β-catenin.

This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.

In this study, a computational analysis of promoter regions in human fertility-related genes identified several new candidate regulatory motifs, but these require further experimental validation due to the limitations of being an in silico examination.

This study found that among Japanese IBD patients, the NUDT15 p.Arg139Cys variant was significantly associated with thiopurine-induced leukopenia and severe hair loss, suggesting its genotyping is important for predicting these adverse events.

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 developed a kidney-specific knockout mouse model lacking the Flcn gene, which recapitulates human Birt-Hogg-Dubé kidney tumorigenesis and shows that mTOR pathway inhibition with rapamycin can suppress tumor growth.