Results 121 to 130 of about 60,654 (250)

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins   +9 more
wiley   +1 more source

Structural and Functional Siderophore Remodeling by Enzymatic Delipidation

open access: yesAngewandte Chemie, EarlyView.
A surprising functional switch in bacterial siderophores was discovered through genome mining and the analysis of environmental and pathogenic Pandoraea species. Pandorachelin B, a lipocyclopeptide that promotes swarming motility, is cleaved by a specialized acylase, yielding a ring‐contracted, homodetic cyclopeptide, pandorachelin A, which exhibits ...
Elena Herzog   +5 more
wiley   +2 more sources

Systematic pathway‐level analysis defines conserved transcriptional divergence between primary lung tumors and cell line models

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Lung cancer cell lines diverge substantially from primary tumors at the transcriptional level. Using single‐sample gene set enrichment analysis and L1‐penalized feature selection across TCGA‐LUAD and CCLE‐LUAD, we identified five Hallmark pathways (E2F targets, G2M checkpoint, IFNγ response, coagulation, and EMT) that discriminated primary tumors from ...
Pritam Bera, Rajesh Raju, Debodipta Das
wiley   +1 more source

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3

open access: yesAnnals of Neurology, EarlyView.
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato   +7 more
wiley   +1 more source

Targeting AKR1C1 overcomes lenvatinib resistance in hepatocellular carcinoma through the STAT3-ABC transporters pathway. [PDF]

open access: yesJ Gastrointest Oncol
Zhang Y   +8 more
europepmc   +1 more source

Liposomal Delivery of L‐2‐Hydroxyglutarate for Targeting Epigenetic Dysregulation in Osteoarthritis

open access: yesAdvanced NanoBiomed Research, EarlyView.
Osteoarthritis involves cartilage degeneration, inflammation, and epigenetic dysregulation. A liposomal formulation of the TET1 inhibitor L‐2‐hydroxyglutarate to overcome rapid joint clearance was developed. The formulation showed good physicochemical properties, reduced inflammatory and catabolic gene expression in chondrocytes, and alleviated ...
Denise Murgia   +10 more
wiley   +1 more source

Rewriting Tumor Immunity With Bacterial Membrane Vesicles: A Versatile and Potent Therapeutic Strategy

open access: yesAdvanced NanoBiomed Research, EarlyView.
Bacterial membrane vesicles (BMVs) emerge as promising platforms for cancer immunotherapy owing to their intrinsic adjuvant properties and tunable cargo delivery capabilities. Their ability to modulate the tumor microenvironment, enhance antitumor immune responses, and support personalized therapeutic strategies highlights their growing potential as ...
Md Sifat Rahi   +6 more
wiley   +1 more source

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