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A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.

This study reports that a clinical prognostic model based on immune-related genes improved survival prediction for patients with clear cell renal cell carcinoma, also identifying potential drugs targeting the gene DOCK8.

This study identifies Armadillo Repeat Only proteins as crucial regulators of plant CNGC channels, influencing various plant functions and showcasing a unique plant-specific role in Ca2+ signaling.

This study found that NKB placental mRNA expression was higher in women with PCOS, particularly in pregnancies with female offspring, suggesting its involvement in PCOS-related placental dysfunction.

This study found that men with Kennedy disease have a significantly lower risk of androgenetic alopecia, likely due to androgen receptor gene alterations from the disease's polyglutamine expansion.

This study found that certain keratin gene mutations associated with pachyonychia congenita are linked to altered enamel structure and increased risk of dental caries.

This study characterized the Hoxc-13 gene from sheep wool follicles, noting its potential autoregulatory role and potential influence on skin function beyond hair keratin regulation.

This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.

This article reviews extensive genetic polymorphisms in the keratin-associated proteins of human hair, indicating complexity but reporting no new clinical results and calls for further research on their potential impact on hair structure.

This study highlighted the effectiveness of HT-scCAT-seq as a tool for understanding gene regulation in single cells, offering insights into embryonic skin development and proposing a framework for exploring regulatory mechanisms in various biological and disease contexts.

In this study, researchers found that β-catenin directly promotes TERT expression in stem and cancer cells by interacting with the Tert promoter, illustrating a mechanistic link between tumorigenesis and pluripotency.

This study reports that the acidic and basic keratin gene clusters in dogs are located on chromosomes CFA9 and CFA27, respectively, similar to genetic arrangements in humans and mice.

This study found that Polycomb repressive complex 1 is crucial for skin development and stem cell specification, influencing gene activity beyond its known repressor functions.

This study found that patients with alopecia areata have distinct mRNA and lncRNA expression profiles between normal and bald scalp areas, identifying differentially expressed genes and revealing potential biomarkers for diagnosis, with keratin family genes possibly playing a key role in the disease's pathogenesis.

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 study integrated single-cell RNA-seq data from four previous studies to create a comprehensive human corneal cell state meta-atlas, revealing novel marker genes, rare cell states, and distinct transcription factors, and offering a tool to enhance future cornea research.

Among Merino × Southdown cross sheep, this study found that certain variants of the KRT81 gene were associated with differences in fleece weight, but not with staple length or fibre diameter traits.

This study confirmed linkage of Clouston syndrome in a large Indian family to the 13q11-12.1 region, suggesting it shares a genetic basis with French Canadian cases.

This study found that KAP7.1 and KAP8.2 genes were significantly more expressed in secondary hair follicles than primary follicles, suggesting their role in regulating cashmere fiber diameter.

This study found that during hair follicle morphogenesis in embryos, the expression pattern of the Hoxc13 gene and skin thickness show similar trends, suggesting possible regulatory mechanisms within Hoxc13 intron regions.

This study identified 19 genetic risk loci and 16 potential causal genes related to PCOS, highlighting the role of immune cell-specific mechanisms in its pathogenesis.

In this study, CTCF was found to play essential roles in epidermal differentiation and skin barrier formation, simultaneously acting as a suppressor of epithelial inflammatory responses in mouse skin.

In this study, the researchers observed that inducing and then withdrawing β-catenin expression in a bigenic mouse model caused reversible changes in skin morphology, indicating dependence on β-catenin signaling.

This genetic study identified four new keratin-associated protein genes in sheep, revealing significant sequence variation and suggesting complex evolutionary dynamics, with unique variants in some sheep breeds linking them to Romanov sheep ancestry.

This study found that the signaling peptide CLE40 and receptor proteins CLV2 and CRN regulate root meristem differentiation through two distinct, antagonistic pathways activated by CLE40 in a dose-dependent manner.

This study concluded that the Wnt signaling pathway does not significantly influence human keratoacanthoma development, but the overexpression of Sox9 suggests alternate signaling involvement.

In this study, researchers identified the c.296C>T (p.T99I) variant in the KRT32 gene, which co-segregates with loose anagen hair syndrome, and found it decreases binding affinity to KRT82, potentially weakening hair anchorage.

In this study, researchers identified thousands of mRNA, lncRNA, circRNA, and miRNA transcripts involved in different hair follicle stages of Rex rabbits and highlighted significant gene expression changes and pathway enrichments, providing insights into the regulatory mechanisms of hair development in these animals.