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561
Genome rearrangements in neurodevelopmental disorders of the central nervous system: origins, genomic mechanisms, functional and clinical consequences. Review article
Published 2022-03-01“…In our research, the detection of chromosomal aberrations by molecular karyotyping and whole exome sequencing capable of uncovering pathogenic variants in any of the human genes were the main technologies used to identify the molecular causes of intellectual disability. …”
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562
Perspectives of Integrative Cancer Genomics in Next Generation Sequencing Era
Published 2012-06-01“…These genome-wide profiles of the genetic aberrations could reveal the candidates for diagnostic and/or prognostic biomarkers as well as mechanistic insights into tumor development and progression. …”
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563
Clinical Significance and Pathogenic Mechanisms of Long Non-Coding RNA TRPM2-AS in Cancers
Published 2025-01-01“…In this review, we comprehensively summarize the latest knowledge on the aberrant expression of TRPM2-AS, the relationship between TRPM2-AS and clinical features, and the detailed mechanisms of potential functions of TRPM2-AS in various cancer types. …”
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564
Gab Adapter Proteins as Therapeutic Targets for Hematologic Disease
Published 2012-01-01“…In addition, Gabs participate in hematopoiesis and regulation of immune response which can be aberrantly activated in cancer and inflammation. The multifunctionality of Gab adapters might suggest that they would be too difficult to consider as candidates for “targeted” therapy. …”
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565
Inflammatory Mediators and Angiogenic Factors in Choroidal Neovascularization: Pathogenetic Interactions and Therapeutic Implications
Published 2010-01-01“…Although the term may suggest just a vascular pathological condition, CNV is more properly definable as an aberrant tissue invasion of endothelial and inflammatory cells, in which both angiogenesis and inflammation are involved. …”
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566
Multitarget CDK inhibitors roscovitine and UCN‑01 induce apoptosis in colorectal cancer cells by inhibiting cell cycle progression and transcription
Published 2025-01-01“…Abstract Colorectal cancer (CRC) is the third leading cause of cancer death in the world, and its incidence is steadily rising in developing nations. Cell cycle aberrations due to deregulation of cyclin dependent kinases (CDKs) and cyclins are common events during colorectal carcinogenesis. …”
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567
Digital pathology and artificial intelligence in renal cell carcinoma focusing on feature extraction: a literature review
Published 2025-01-01“…Consequently, studies in renal cell carcinoma (RCC) have emerged, highlighting potential in histological subtype classification, molecular aberration identification, and outcome prediction by extracting high-throughput features. …”
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568
An investigation into the critical ingredients of intensive support teams for adults with intellectual disabilities who display challenging behaviour
Published 2025-02-01“…The primary outcome was mean change in the total score on the Aberrant Behavior Checklist and its subscales. Results A measure of mental illness severity was the only variable associated with our primary outcome of reduction in challenging behaviour. …”
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569
Balance between Regulatory T and Th17 Cells in Systemic Lupus Erythematosus: The Old and the New
Published 2012-01-01“…However, the pivotal role of T lymphocytes in the induction and perpetuation of aberrant immune response is well established. Among T cells, IL-17 producing T helper (Th17) cells and regulatory T (Treg) cells represent an intriguing issue to be addressed in SLE pathogenesis, since an imbalance between the two subsets has been observed in the course of the disease. …”
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570
Mitochondrial transplantation for cardioprotection and induction of angiogenesis in ischemic heart disease
Published 2025-02-01“…How and by which mechanisms, mitochondria can reduce aberrant myocardial tissue remodeling via different pathways such as angiogenesis and de novo blood formation was discussed in detail. …”
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571
Superior Thyroid Cornu Anatomical Variation Causing Globus Pharyngeous and Dysphagia
Published 2010-01-01“…Clinical examination and diagnostic procedures revealed a rare anatomic aberrance of the thyroid cartilage. Surgical treatment was declined by the patient who accepted a yearly followup. …”
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572
Advantages and Disadvantages of Hyperbaric Oxygen Treatment in Mice with Obesity Hyperlipidemia and Steatohepatitis
Published 2011-01-01“…As for the effects of increasing oxidative stress, the liver histology of the HBOT group showed severer cellular damage and aberrant TNF-α expression. HBOT has the advantage of improving obesity in patients with metabolic syndrome, but the fault of causing organ damage by increasing oxidative stress.…”
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573
Histone demethylases in autophagy and inflammation
Published 2025-01-01“…Epigenetic changes, such as aberrant expression of histone demethylase, are actively associated not only with oncogenesis but also with inflammatory responses. …”
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574
Exploring the role of ubiquitination modifications in migraine headaches
Published 2025-01-01“…Calcitonin gene-related peptide (CGRP) plays a dominant role and activation of MAPK and NF-κB signaling pathways regulates neuropeptide release, glial cell activation, and amplification of nociceptive signals. Aberrant activation of these pathways drives migraine onset and chronicity. …”
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575
Autophagy: More Than a Nonselective Pathway
Published 2012-01-01“…Autophagy is a catabolic pathway conserved among eukaryotes that allows cells to rapidly eliminate large unwanted structures such as aberrant protein aggregates, superfluous or damaged organelles, and invading pathogens. …”
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576
Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNA
Published 2025-02-01“…In this study, we used modified, GAA-tailored U1 snRNAs to correct the aberrant splicing determined by the c.-32-13T>G and other GAA exon 2-skipping mutations. …”
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577
Novel banana lectin CAR-T cells to target pancreatic tumors and tumor-associated stroma
Published 2023-01-01“…We address both limitations with a novel class of chimeric antigen receptors based on plant lectins, which recognize the aberrant sugar residues that are a ‘hallmark’ of both malignant and associated stromal cells. …”
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578
Autoridade prática e ambivalência das instituições de justiça no crime-desastre da Barragem de Fundão
Published 2020-01-01“…We argue that the concept of practical authority (Abers & Keck 2016) sheds light on both the dynamics of correcting injustices suffered in the context of Samarco’s crime-disaster (Mariana, MG, 2015), and on the ambivalence of institutional representatives. …”
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579
Feline Neural Progenitor Cells I: Long-Term Expansion under Defined Culture Conditions
Published 2012-01-01“…Importantly, later passage cNPCs did not develop chromosomal aberrations.…”
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580
Molecular Pathogenesis of MALT Lymphoma
Published 2015-01-01“…This review mainly discusses MALT lymphomas in terms of their genetic aberration and association with chronic infections and summarizes recent advances in their molecular pathogenesis.…”
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