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This study reports that newly diagnosed patients with Bachmann-Bupp syndrome exhibit a broader phenotype than previously documented, including late-onset seizures, and suggests a possible universal biochemical mechanism involving elevated ODC activity.

This study found that autophagy is impaired in Birt-Hogg-Dubé syndrome-associated renal tumors and identified that the FLCN protein interacts with key autophagy components regulated by ULK1.

This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.

This study developed an in vitro model using NTERT keratinocytes expressing AEC-related TP63 mutations, which replicated skin defects observed in AEC patients and offers a valuable tool for understanding the disorder and developing new treatments.

This study found that CAP1 plays a significant role in reducing ammonium toxicity in Arabidopsis thaliana by promoting shoot growth and maintaining reactive oxygen species homeostasis.

This study investigated the histogenetic relationship between basal cell carcinoma and hair follicles, revealing specific staining patterns of a monoclonal antibody in different skin tissues.

In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.

This study found that the JAK1 inhibitors baricitinib and abrocitinib significantly reduced mechanical alloknesis in a murine model of atopic dermatitis, whereas the JAK2 inhibitor AZ960 had no effect.

In this study, researchers found that specific mutations in iRhom2 in mice lead to skin and hair abnormalities which depend on the presence of the protein ADAM17, suggesting a complex role for iRhom2 in tissue development and potential implications for treating tylosis with oesophageal cancer.

This study suggests that the interaction between folliculin and plakophilin-4 (p0071) may play a role in folliculin's tumor suppressor function by regulating RhoA signaling, impacting cell migration and junction formation.

This study found that small molecule AP-1 inhibitors may selectively target SMO inhibitor-resistant basal cell carcinoma cells characterized by specific markers, potentially enhancing combinatorial cancer therapies.

This study identified a compound heterozygous mutation in a hairless rhesus macaque, which was associated with skin abnormalities similar to those in hairless mice and humans with APL.

This study identified a novel gene, hacl-1, that is specifically expressed in the hair follicles of ICR mouse skin and is associated with their active state.

In this study, researchers found that the loss of SETDB1 in epidermal keratinocytes led to altered chromatin states, increased ERV expression, and activation of immune responses, while inhibiting these effects with certain antiviral drugs reduced skin inflammation and hair loss in a mouse model.

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 study found that the transcription factor HB24 plays a critical role in root hair elongation in Arabidopsis thaliana by promoting the conversion of indole-3-butyric acid to indole-3-acetic acid through regulation of IBR1 expression.

The study suggests that integrin β1 is crucial for maintaining liver microstructure and its absence may promote fibrosis by disrupting hepatocyte-extracellular matrix interactions and increasing TGF-β secretion.

This study found that disrupting Adam10 in the epidermis led to severe skin and multi-organ abnormalities, implicating Adam10 as crucial for proper Notch signaling and skin maintenance.

This study examined the expression of fatty acid transporters and binding proteins in mouse sebaceous glands and found that CD36 did not affect the localization of other related molecules.

This study found that "early" transit amplifying cells, marked by CD271, are the first keratinocyte stem cell progenitors with distinct features, playing a significant role in early epidermal differentiation and regeneration.

This study identified a novel Acinetobacter species, strain A1-4-2, with exceptional biodegradation abilities and low antibiotic resistance, found in diverse environments and potentially useful for ecological restoration by degrading organic pollutants.

This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.

This article reviews the structure and regulation of the ITGB6 gene and discusses its role in integrin αvβ6 expression, with no new experimental results reported.

In this study, researchers developed two novel mouse models to investigate how CD271 deletion in keratinocytes affects skin homeostasis, finding that it leads to changes resembling dysplastic skin conditions with immune cell recruitment and inflammatory cytokine release.

This study demonstrated that switching aE-catenin to aT-catenin in murine skin substantially rescued hyperproliferative and pre-cancerous conditions, but led to partial baldness, indicating potential functional discrepancies.

This study confirms that zebrafish engineered with Cantú Syndrome mutations in ABCC9 and KCNJ8 genes exhibit gain-of-function characteristics in their cardiovascular KATP channels, similar to mammalian counterparts.

This study found that activating CB1 receptor signaling in human hair follicles increased stem cell proliferation while reducing differentiated cell survival, suggesting CB1's role as a survival stimulus for epithelial stem cells.

This study found that CRABP1, Nestin, and Ephrin B2 are expressed in both the tumor stroma and invasive front of skin adnexal tumors and basal cell carcinomas.