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This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.

In this study, researchers found multiple somatic mutations and copy number variations in a patient with Cronkhite-Canada syndrome, providing novel insights into its potential genetic mechanisms.

In this quasi-experimental study, researchers explored the optimal formulation of a nanoemulsion containing candlenut ethanol extract, finding that specific combinations of tween 80, span 80, and sonication time affected its physical properties and stability, although further activity testing is needed.

This study developed a new method to analyze Cantú syndrome mutations in KATP channels, finding that while Kir6.1 mutations increase sensitivity to potassium channel openers, SUR2B mutations show reduced sensitivity, but both result in marked hyperpolarization compared to wild-type channels under basal conditions.

This study mapped the curly mutation in mice to a specific region on chromosome 11, identifying it as a candidate model for studying human genetic hair disorders.

In this study, researchers found no significant association between the D19S884 marker near the insulin receptor gene and polycystic ovary syndrome in women from Spain and Italy.

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This study introduced Cadd4, a peptide-based degrader developed using computer-aided drug design, which effectively reduced PCSK9 levels and increased LDL receptor expression, resulting in decreased plasma cholesterol and LDL-C levels in hypercholesterolemic mice, without liver toxicity.

This phase I study reported that ETC-159, targeting Wnt signalling, showed tolerable safety profiles at doses that inhibit its pathway, though bone turnover markers increased, warranting early and regular monitoring. No tumor responses were observed, but two patients achieved stable disease for several cycles.

This study suggests that activation of polyamine catabolism in K6-SSAT transgenic mice may significantly increase skin tumor development and progression to carcinomas following chemical induction.

TICE salvage chemotherapy is effective for treating germ-cell tumors with poor prognosis.

This animal study found that Cinnamomi cortex water extract reduced prostate weight and improved histological changes in a benign prostatic hyperplasia model, suggesting potential as a treatment.

This study developed a precise and simple HPLC method for estimating tamsulosin and finasteride simultaneously in pharmaceutical forms, demonstrating good precision and potential usefulness for combined dosage analysis.

In this study, researchers found that β-catenin directly promotes TERT expression in stem and cancer cells by interacting with the Tert promoter, illustrating a mechanistic link between tumorigenesis and pluripotency.

This study observed that β-catenin overexpression in human squamous cell carcinoma cells led to increased CREB expression, which significantly enhanced clonogenic activity, suggesting CREB as a β-catenin-regulated factor promoting cancer characteristics.

This study reviews recent advancements in understanding caspases, highlighting their roles beyond apoptosis in cancer, inflammation, and neurological disorders, and discusses the potential and challenges of targeting caspases for therapeutic purposes.

In this study, targeted deletion of the stearoyl-CoA desaturase 1 gene in mice disrupted the epidermal lipid barrier, leading to increased water loss, impaired thermoregulation, and metabolic issues.

This review highlights the potential of coffee silverskin's bioactive compounds in combating skin aging and related conditions, suggesting it as a promising natural ingredient for cosmetics due to its antioxidant, anti-inflammatory, and anti-aging properties.

This case report details a 17-year-old girl with systemic lupus erythematosus and recurrent infections linked to a complete isolated Clq deficiency.

This study developed a transgenic mouse model to explore androgenetic alopecia, finding that inducible COX2 expression led to sebaceous gland changes and hair miniaturization, with reversible effects upon reducing COX2.

This phase 2a trial evaluated Samcyprone for common wart treatment and found that while a sensitization reaction is necessary for therapeutic response, its level does not predict wart clearance.

This study found that sodium selenite induced both subacute and chronic selenosis in cow calves, significantly affecting specific haematological parameters, with more pronounced alterations observed in chronic toxicity.

This study found that the N363S variant of the glucocorticoid receptor was rare among women with PCOS and did not significantly contribute to genetic risk for PCOS or adrenal androgen excess.

This case report describes a 22-year-old woman with systemic lupus erythematosus who developed scurvy due to low serum ascorbic acid, despite a diet of white meat and processed foods.

This study found that the observed isotropic ss-ECD spectrum of finasteride is influenced by the anisotropy of locally oriented crystals, offering new possibilities for analyzing solid-state chiral materials.