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This study identified ectodin as a novel BMP inhibitor that modulates BMP signaling in ectodermal development by interacting with SHH and FGF pathways.

This study found that both genome-wide screening methods identified the VTRNA2-1 epiallele as highly responsive to environmental influences, suggesting a link between early embryonic environment, epigenetic changes, and human disease.

In this case report, researchers observed a Slovakian neonate with a rare EGFR genetic mutation who presented with severe neonatal dermatoses, ichthyosis, and multisystem complications, emphasizing the significance of genetic diagnosis for such complex conditions.

This study demonstrated that AIRE-deficient rats exhibit key symptoms of APECED, making them a relevant model for exploring potential treatments.

This study found that bursts of ERK activation in the epidermis of mice were linked to cell division, supporting synchronized cell proliferation and transient ERK activity in living tissues.

This study identified novel genetic variants related to rare skin and hair disorders, expanding the understanding of conditions like COLED, EV, and monilethrix, including a newly discovered type I keratin gene, KRT31, as a cause for monilethrix.

This study found that the E3 ligases NEDD4 and NEDD4L regulate intestinal stem cell priming by degrading the LGR5 receptor, and their loss leads to increased Wnt activation and crypt proliferation, which in turn accelerates intestinal tumor progression in mice.

This study found that in male androgenic alopecia, the androgen receptor coactivator ARA70/ELE1 exhibits differential expression patterns, suggesting its involvement in the condition.

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 most pathogenic HR mutants associated with atrichia with papular lesions had abolished corepressor activity due to defective interactions with histone deacetylases.

In this study, researchers used a reporter mouse model to identify and characterize distinct subtypes of dopaminergic neurons in the gut's enteric nervous system, revealing novel populations with potential implications for understanding their roles and vulnerabilities in disease.

This report describes a boy with ectodermal dysplasias who was genetically diagnosed due to newly discovered TSPEAR gene variants, which have now been associated with this condition.

This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.

This study identified the novel genetic variant rs143321413 within the EEF2K gene, which may play a role in the development of polycystic ovary syndrome.

This study indicated that the mineralocorticoid receptor (MR) plays a transient role in regulating epidermal differentiation during late embryonic stages, with glucocorticoid receptor (GR) potentially compensating for MR loss during the perinatal period.

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 found that distinct spiny hair morphologies in rodents arose independently multiple times but did not link the Ecdysoplasin A receptor gene mutation that affects human hair to these variations.

This study found that sustained ERK activity during tissue regeneration in spiny mice is linked to fibroblast growth factor and ErbB signaling, while inhibiting ERK shifted regeneration toward scarring.

In this study, Gsdma1/2/3 knockout mice showed reduced epidermal hyperplasia and inflammation when induced by PMA, which was attributed to decreased EGFR-Stat3/Akt signaling due to a decrease in related ligands.

This study found that RhoA influences embryonic stem cell proliferation through the PKN1-cyclin D1 pathway in vitro, suggesting RhoA as a potential target for wound healing therapies.

This study found that abolishing H3K27me3 in mouse skin by targeting Ezh2 and Ezh1 affects hair follicle development and epidermal behavior, revealing functional differences between these tissues.

This study reports a novel homozygous mutation in the DST gene causing a unique form of epidermolysis bullosa simplex with prurigo papules in a 39-year-old Syrian man.

This study reported that reconstructed skin models can be useful for studying the effects of non-water-soluble topical products on xenobiotic metabolism, particularly in enzyme activities like EROD and GST.

This study found that mice lacking REDD1 experienced an expansion of dermal white adipose tissue through both hypertrophy and hyperplasia, suggesting a potential therapeutic target for skin adipogenesis regulation.

This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.

In this study, ebastine significantly increased the proliferation of human follicle dermal papilla cells and may contribute to hair regrowth by activating the ERK signaling pathway.

This study suggests that the vitamin D receptor and hairless gene may directly regulate each other via a transcriptional mechanism, potentially explaining phenotypic similarities between atrichia and VDRRIIa rickets.