Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

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 identified the genes for pyochelin siderophore biosynthesis as a novel target regulated by the heme-responsive PrrH sRNA in Pseudomonas aeruginosa.

This study found that LEF-1 expression influences dermal papilla cells' proliferation through Wnt signaling, impacting the potential for cashmere yield improvement.

This study found that Ift20 is essential for hair follicle stem cell identity and hair regrowth, and it regulates keratinocyte migration during wound healing through focal adhesion integrin recycling, independently of ciliogenesis.

In this case report, a novel heterozygous mutation in the insulin receptor gene was identified in an adolescent girl with type A insulin resistance syndrome, characterized by excessive hair growth and skin changes, and her mother.

This study found that carbonic anhydrase II was significantly upregulated in human keratinocytes when treated with toll-like receptor 3 agonist and Th2 cytokines, suggesting its potential role in inflammatory skin conditions.

This study found that low temperature triggers root hair elongation in Arabidopsis thaliana through a FERONIA-ROP2-TORC signaling pathway, also activated by nitrogen deficiency.

This study found that Pik3r1 Y657* mice, which model human SHORT syndrome, show increased energy expenditure despite insulin resistance, but this is not due to changes in locomotion, thermoregulation, or Ucp1-dependent thermogenesis, suggesting a different metabolic mechanism may protect against lipotoxicity.

In this study, researchers observed that P2X3-immunoreactive fibers extensively innervate the epidermis of rats, suggesting a primary role in detecting noxious stimuli in cutaneous tissue.

In this study, researchers found that loss of OGG1 in a mouse model of systemic lupus erythematosus increased IFN-driven immune responses and aggravated skin lesions, suggesting a protective role for OGG1 in SLE skin disease.

INTASYL is a promising, adaptable RNAi technology for treating skin cancers.

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 reported that ELL is crucial for maintaining the proliferative capacity of the basal layer in human epidermal keratinocytes by stabilizing RNA polymerase II at the transcription start site.

This study found that selectively inactivating ribonucleotide excision repair in mouse epidermis leads to DNA damage, keratinocyte intraepithelial neoplasia, and squamous cell carcinoma, indicating a potential tumor-promoting mechanism related to compromised genome maintenance.

This study found that over- and ectopic-expression of FoxN1 in early life negatively affected the development of thymic epithelial cells, T and B cells, and skin epithelial cells.

This study found that manipulating AKR1D1 expression in human liver cells effectively regulates glucocorticoid clearance and receptor activation, highlighting its role in liver-specific steroid hormone regulation.

This study demonstrates that Krt15 marks long-lived, multipotent, and injury-resistant crypt cells in the small intestine, which may serve as the cell of origin in intestinal cancer.

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.

In this study using a mouse model, researchers found that expressing Lef1 in dermal fibroblasts may enhance skin regeneration without affecting normal development.

In this study, researchers observed that HIF1α is expressed in germ cells throughout fetal and neonatal development, suggesting it may regulate telomerase activity and maintain the undifferentiated state of stem/progenitor cells.

This study found that mutations in the TMPRSS6 gene affect the ability of matriptase-2 to inhibit hepcidin, which may impact the molecular pathogenesis of iron-refractory iron-deficiency anemia.

This study found that deficiency in TLR3/TRIF signaling reduced inflammation and protected mice against postoperative ileus, suggesting potential for TLR3 antagonism as a preventive approach in humans.

This study identifies specific molecular components involved in the intracellular trafficking of LGR5, revealing mechanisms that differ from typical GPCR recycling processes.

In this study, researchers identified a temperature-sensitive mutation in the FERONIA gene of plants that prevents root hair formation at elevated temperatures, highlighting its role in maintaining root hair growth and response to plant hormones.

Nelfb is essential for dermal fat development and survival.

In this study, the deletion of NIPP1 in keratinocytes led to chronic skin inflammation and epidermal changes in mice, with early cell-cycle arrest and premature senescence observed, potentially contributing to reduced mutagen sensitivity.

This study identified the TALE homeodomain transcription factor Meis2 as a crucial regulator for the maturation and end-organ innervation of certain mechanoreceptors in mice, with its absence leading to altered sensory neuron structure and impaired touch sensitivity.

This study found that transgenic mice overexpressing E2F1 in their epidermis developed skin tumors, confirming in vivo that deregulated E2F1 activity can contribute to tumor development.

This review discusses the significance of IL-1 family cytokines in skin inflammation and pathology, emphasizing their interactions with microbes and potential therapeutic applications, but reports no new clinical results.

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.