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3141
Oxidative stress induced protein aggregation via GGCT produced pyroglutamic acid in drug resistant glioblastoma
Published 2025-02-01“…Summary: Drug resistance is a major barrier to cancer therapies and remains poorly understood. Recently, non-mutational mechanisms of drug resistance have been proposed where a more plastic metabolic response can play a major role. …”
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3142
Case report: Multisystemic smooth muscle dysfunction syndrome: a rare genetic cause of infantile interstitial lung disease
Published 2025-01-01“…Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an autosomal dominant disorder caused by mutations in the ACTA2 gene, resulting in variable clinical manifestation and multi-organ dysfunction. …”
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3143
Hydroxychloroquine-induced Sweet’s Syndrome: A Case Report and Literature Review
Published 2025-01-01“…Its pathophysiology is poorly understood but there seems to be an auto-inflammatory component related to mutations in inflammasome genes. It has been subdivided into its classic form, malignancy-associated, and drug-induced, according to its aetiology. …”
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3144
Intratumor heterogeneity in KRAS signaling shapes treatment resistance
Published 2025-02-01“…Summary: KRAS mutations are linked to some of the deadliest forms of cancer. …”
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3145
A Brief Review on Medicinal Plants-At-Arms against COVID-19
Published 2023-01-01“…Strenuous efforts have been employed for its control and prevention; however, with recent reports on mutated strains with much higher infectivity, transmissibility, and ability to evade immunity developed from previous SARS-CoV-2 infections, prevention alternatives must be prepared beforehand in case. …”
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3146
VEGF Spliced Variants: Possible Role of Anti-Angiogenesis Therapy
Published 2012-01-01“…Among these tumour types, clear cell renal cell carcinomas (RCCs) are the most vascularized tumours due to mutations of the von Hippel Lindau gene resulting in HIF-1 alpha stabilisation and overexpression of Vascular Endothelial Growth Factor (VEGF). …”
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3147
The mycobacterial ABC transporter IrtAB employs a membrane-facing crevice for siderophore-mediated iron uptake
Published 2025-01-01“…When IrtAB is locked in its outward-occluded conformation in nanodiscs, mycobactin is bound in the middle of the lipid bilayer at a membrane-facing crevice opening at the heterodimeric interface. Mutations introduced at the crevice abrogate mycobactin import and in corresponding structures, the crevice is collapsed. …”
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3148
Idiopathic Infantile Arterial Calcification: A Possible Cause of Refractory Cardiopulmonary Failure in Infancy
Published 2014-01-01“…Idiopathic Infantile Arterial Calcification is a rare autosome recessive disease characterized by extensive calcification of medium and large arteries. Loss-of-function mutations in ectonucleotide pyrophosphatase/phosphodiesterase 1 gene have been described in more than 80% of the cases. …”
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3149
Elevated expression of ANTXR1 gene in tumors is a poor prognostic biomarker for patients with bladder cancer
Published 2025-01-01“…Furthermore, TEM8 plays this unique role as a mostly non-mutated gene in solid cancers. Here, we demonstrate that elevated expression of ANTXR1 in bladder cancer showed a statistical difference not only in overall survival (OS) but in progression-free survival (PFS), confirming the prognostic biomarker power of ANTXR1 expression.…”
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3150
Navigating from cellular phenotypic screen to clinical candidate: selective targeting of the NLRP3 inflammasome
Published 2024-12-01“…Patients with NLRP3 mutations suffer from Cryopyrin-Associated Periodic Syndrome (CAPS) emphasizing the clinical significance of modulating NLRP3. …”
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3151
Tumor-infiltrating lymphocytes mediate complete and durable remission in a patient with NY-ESO-1 expressing prostate cancer
Published 2023-01-01“…TILs were reactive against cancer-testis antigen NY-ESO-1, individual tumor mutational proteins (eg, PRPF8, TRPS1), and the androgen receptor splice variant 12.…”
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3152
Antibiotic, Pesticide, and Microbial Contaminants of Honey: Human Health Hazards
Published 2012-01-01“…Pesticide residues cause genetic mutations and cellular degradation and presence of antibiotics might increase resistant human or animal's pathogens. …”
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3153
Systematic surveillance of SARS-CoV-2 reveals dynamics of variant mutagenesis and transmission in a large urban population
Published 2024-12-01“…Systematic screening of functionally relevant domains in pathogens could thus provide a powerful tool for monitoring spread and mutational trajectories, particularly those with zoonotic potential.…”
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3154
Genetic, Functional, and Immunological Study of ZnT8 in Diabetes
Published 2019-01-01“…A common ZnT8 gene (SLC30A8) polymorphism increases the risk of type 2 diabetes mellitus (T2DM), and rare mutations may present protective effects. In type 1 diabetes mellitus (T1DM), autoantibodies show specificity for binding two variants of ZnT8 (R or W at amino acid 325) dictated by a polymorphism in SLC30A8. …”
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3155
Optimal control of chikungunya disease: Larvae reduction, treatment and prevention
Published 2012-02-01“…The nature of these arboviruses is complex since it conjugates human, environmental, biological and geographical factors.Recent researchs have suggested, in particular during the Réunion Island epidemic in 2006, that the transmission by Aedes albopictus (an Aedes genus specie) has been facilitated by genetic mutations of the virus and the vector capacity to adapt to non tropical regions.In this paper we formulate an optimal control problem, based on biological observations. …”
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3156
Advances in Immunotherapy and Targeted Therapy of Malignant Melanoma
Published 2025-01-01“…Malignant melanoma (MM) is a malignant tumor, resulting from mutations in melanocytes of the skin and mucous membranes. …”
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3157
Identification of selective SWI/SNF dependencies in enzalutamide-resistant prostate cancer
Published 2025-02-01“…Given that many enzalutamide-resistant tumors lack specific somatic mutations, there is strong evidence that epigenetic factors can cause enzalutamide resistance. …”
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3158
Models for the marrow: A comprehensive review of AI‐based cell classification methods and malignancy detection in bone marrow aspirate smears
Published 2024-12-01“…Moreover, AI is capable of identifying genetic mutations phenotypically. This pipeline has the potential to offer an accurate and rapid preliminary analysis of the bone marrow in the clinical routine. …”
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3159
Characterization of a pleomorphic rhabdomyosarcoma cell line
Published 2025-01-01“…Results of the novel functional BH1522 tests corroborate published tumor sequencing data that demonstrated alterations in receptor tyrosine kinase/MAPK, PI3K/AKT and mutated p53 as suspected drivers of malignant growth.…”
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3160
Discontiguous recurrences of IDH-wildtype glioblastoma share a common origin with the initial tumor and are frequently hypermutated
Published 2025-01-01“…Exome analysis revealed shared driver and passenger mutations between discontiguous recurrences and initial tumors, supporting a common origin. …”
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