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

This study developed rat monoclonal antibodies that specifically detect Pax1/PAX1 protein, which could improve diagnostic protocols for conditions involving deregulated Pax1/PAX1 expression.

This study found that the proteins Par3, mInsc, and Gαi3 cooperate to regulate LGN polarization and promote perpendicular cell divisions during murine epidermal morphogenesis.

In this study, loss of epidermal Par3 in mice disrupted the skin barrier and affected cell differentiation and stem cell maintenance, highlighting its role in epidermal homeostasis.

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 mosaic mutations in the CARD14 gene are linked to inflammatory linear verrucous epidermal naevus in two patients, who experienced significant improvement with the IL12/IL23 inhibitor Ustekinumab.

PTHrP is important for bone formation and may be targeted for osteoporosis treatment and longevity therapies.

This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.

In this study, researchers found that shorter CA repeats in the ERbeta gene are correlated with PSA expression, and PSA immunoexpression is associated with increased disease-free survival in breast cancer.

This study presents the G4 transgenic mouse model, which suggests a direct link between polycystic ovary syndrome and the Gm10800 gene, offering a valuable tool for understanding the disease and testing treatments.

This study identified a novel keratin-associated protein, KAP24.1, which is specifically expressed in the human scalp and located in the hair cuticle.

This study found that overexpression of sFRP4 in skin cells reduces Wnt signaling activation, leading to decreased melanocyte differentiation in regenerating hair follicles.

This study used whole-genome resequencing to analyze genetic diversity and selection in 17 rabbit breeds, identifying genes linked to traits like coat color and body size, which could inform breeding and conservation efforts.

This study identified a target relationship between miR-148a, miR-10a, and BMP7, suggesting these microRNAs influence dermal papilla cell proliferation and may regulate hair follicle growth.

In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.

In this study, whole-genome sequencing of Lanping black-boned sheep identified ERBB4 and ROR1 genes as potentially important in their distinctive hyperpigmentation, enhancing understanding of their genetic evolution from Lanping normal sheep.

This research reexamined transcriptomic data to study stem and progenitor cell proliferation in psoriasis, finding that the number of committed progenitor cells increased eight-fold in psoriatic skin without altering stem cell numbers, potentially identifying new therapeutic targets.

In this study, researchers identified the CBL1-CIPK26 Ca 2+ sensor-kinase complexes as key modulators of the NADPH oxidase RBOHC crucial for root hair differentiation in plants.

This review assesses existing knowledge about the 17q21.31 inversion polymorphism, highlighting its genetic structure differences across ancestries, associations with various diseases, and implications for precision medicine and drug discovery.

In this study, analysis of over 800 Iranian patients with epidermolysis bullosa identified 15 with pathogenic PLEC variants, highlighting a correlation between variant locations and phenotypic manifestations of plectinopathies.

In this study, deleting the transcriptional pause factor Nelfb in mouse preadipocyte lineages led to defective dermal fat formation and lethal outcomes, while interventions targeting Pparg could rescue adipocyte differentiation and promote dermal white adipose tissue formation, underscoring Nelfb's critical role in adipogenesis.

This study found that scoparone increased the expression of certain pluripotency-related proteins in dermal papilla cells, suggesting a potential new mechanism for enhancing hair growth.

This study concluded that overexpressing TERT and BMI1 in cultured human dermal papilla cells extended their lifespan and enhanced their ability to induce hair growth in mice.

In this study, disruptions in phospholipase A2 activity in Arabidopsis thaliana significantly impaired the plasma membrane localization of PIN proteins, affecting auxin transport and root development.

This study suggests that the Grasp protein may play a role in regulating skin homeostasis following UVB exposure by influencing p53-mediated apoptotic responses in mice.

This study identified two significant genomic regions potentially involved in hair development and growth in Casertana pigs, highlighting FOXN3 and ARHGEF10 as candidate genes associated with a hairless phenotype.

In this study, AgK114 was found to be transiently induced in hamster epidermal keratinocytes following skin damage, suggesting its role in the recovery process after injury.