Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

In this study, researchers characterized the retinal structure and function of the Oat^rhg mouse model of gyrate atrophy, finding localized atrophy without significant retina-wide functional impact, suggesting the model may be useful for testing new treatments using multimodal retinal imaging.

This research reports that transglucosylation significantly improved the water solubility of baicalin through the synthesis of baicalin glucosides, with BG1 and BG2 showing enhanced solubility and potential biological activity similar to baicalin in antioxidant and anti-glycation assays.

This study reported that the NUDT15 R139C genetic variant was significantly associated with thiopurine-induced leukocytopenia in Japanese inflammatory bowel disease patients, independent of 6-thioguanine nucleotide levels.

This study found that glibenclamide exhibited a cytostatic effect on MDA-MB-231 breast cancer cells, potentially mediated through K ATP channels, and enhanced the antiproliferative impact of doxorubicin.

This case report found that a child with acrodermatitis enteropathica showed significant improvement in symptoms after continuous zinc supplementation and identified two SLC39A4 mutations through genetic sequencing.

This study found that simultaneously inhibiting both KLK5 and KLK7 proteases completely rescued skin barrier defects in a mouse model of Netherton syndrome, suggesting both should be therapeutic targets.

This review discusses the development and clinical progression of PROTAC technology for targeted protein degradation, highlighting its potential to address previously "undruggable" targets but reports no new clinical results.

This review highlights the potential of PROTACs to transform cancer treatment by selectively degrading oncogenic proteins, overcoming drug resistance, and reducing toxicity; it also discusses challenges in optimizing these therapies for personalized applications.

This case report describes a child with Gomez–Lopez–Hernandez syndrome, highlighting developmental challenges and medical interventions, yet noting academic success and participation in mainstream activities.

In this study, researchers found that deficiencies in Gsdma1/2/3 significantly inhibited the initiation and progression of cutaneous squamous cell carcinoma (cSCC) in mice, suggesting GSDMA's role in promoting cSCC proliferation and its potential as a therapeutic target.

This review examines the clinical features, causes, diagnosis, and treatment of Chrousos syndrome but reports no new experimental findings on this condition.

This case study documented a black male newborn developing large bullae that healed with hypopigmentation, suspecting proteolytic enzymes in keratinocytes caused the collagenolysis responsible for the condition.

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 study utilized a mouse model of traumatic brain injury to reveal that acute neurotrauma triggers widespread lipid metabolism reprogramming and storage lipid accumulation in microglial and monocyte populations, leading to lysosomal dysfunction, inhibited autophagy, and exacerbated inflammation through a pathological feedback loop.

This study found that homocysteine-keratin accumulation in human hair increases towards the tips, linked to copper/iron-catalyzed demethylation of methionine, and may contribute to keratin damage.

This article reports a case of Netherton's syndrome that responded to 12% ammonium lactate lotion, suggesting potential treatment benefits for skin and allergic symptoms in this rare condition.

This study found that notch1 signaling is severely impaired in hidradenitis suppurativa patients with or without NCSTN or other gamma-secretase gene mutations, highlighting a canonical defect at the lesional tissue level.

This study found that chronic high dosages of 2-(difluoromethyl)-dl-ornithine caused various toxicities in rats and dogs, with some effects potentially minimized at lower dosages.

This study found that Ldh activity in hair follicle stem cell-mediated squamous cell carcinoma is not necessary for tumorigenesis, as its modulation did not affect the cancer's development or characteristics.

This study found that a mutation in the seventh exon of the KRT86 gene plays a major role in the pathogenesis of monilethrix in a Chinese family.

This review discusses the potential antidepressant effects of phenylalanine, highlighting its significant activity in laboratory studies, but reports no new clinical findings.

This study found that alkylation of kerateine cysteine residues created a cell-compatible method for controlling hydrogel erosion rates and therapeutic agent release in keratin-based systems.

This study found that progesterone can increase glycine release in rat brainstem neurons through its conversion to allopregnanolone, which modulates presynaptic GABA receptor activity.

This study concluded that 16β-methyl-17α-benzoyloxypregnen-4-en-3,20-dione may be a promising treatment for androgen-dependent diseases and epilepsy due to its antioxidant effects and impact on GABAergic and serotonergic metabolism in rats.

This study describes that 65% of patients receiving imatinib mesylate in a patient assistance program experienced skin hypopigmentation, primarily in ethnically Chinese individuals, suggesting variability across populations.

This study found that palmitoylethanolamide may stimulate allopregnanolone synthesis and reduce oxidative stress in astrocytes through PPAR-α activation, suggesting a neuroprotective role.

This study found that enzymatic conversion of Arg-51 in S100A3 protein to citrulline promotes homotetramer assembly, potentially increasing Ca²⁺ binding required for hair cuticular barrier formation.

This study developed a mouse model to mimic PHGDH gene copy number gain, finding that increased PHGDH expression leads to abnormal melanin production, which may offer insights into its role in melanoma.