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- Genetic Phenomena 2
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2421
The Short Dramatic Form in the Works of Kostas Ostrauskas and Juozas Erlickas
Published 2023-12-01“…The question is whether (and how) such ‘mutations’ of dramatic writing maintain a specific theatrical mode of operation (the plot, the character etc.) when they enter the dynamic field of the short form. …”
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2422
The Genetics of Alzheimer’s Disease
Published 2012-01-01“…It is inherited in Mendelian dominant fashion and is caused by mutations in three genes (APP, PSEN1, and PSEN2). …”
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2423
KSHV hijacks the antiviral kinase IKKε to initiate lytic replication.
Published 2025-01-01“…Further experiments utilizing mutations on the SUMOylation sites of IKKε or inhibiting IKKε using BAY-985 showed that these actions no longer impact PML NBs and completely suppress the lytic replication of KSHV. …”
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2424
Cell-free assays reveal that the HIV-1 capsid protects reverse transcripts from cGAS immune sensing.
Published 2025-01-01“…Viral DNA could be "deprotected" by thermal stress, capsid mutations, or reduced concentrations of inositol hexakisphosphate (IP6) that destabilize the capsid. …”
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2425
Clinical Study of De novo Histoid Leprosy
Published 2025-01-01“…A probable reason may be due to primary dapsone resistance by the folP1 gene, and another possibility could be due to other mutations in the Mycobacterium leprae. Early recognition of de novo cases with prompt institution of sufficient duration of WHO multibacillary multidrug therapy therapy under prolonged follow-up is important to ensure a favorable outcome.…”
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2426
Révéler ce qui fait patrimoine pour penser le renouvellement urbain des cités d’habitations à bon marché de Grenoble
Published 2020-11-01“…What makes heritage can be approached as a living, constantly evolving process, integrating mutations, changes and ruptures and articulating three patrimonial values: historical value, use value and renewal value. …”
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2427
Gastrointestinal stromal tumors
Published 2010-08-01“…Diagnostics, treatment and outcome at patients with GIST underwent significant changes for last 10 years due to discovering of molecular mechanisms, resulting in development of tumor: activated mutations of KITand PDGFR α-tyrosine kinase. These findings promoted development of tyrosine kinase inhibitor – imatinib which demonstrated essential advantage in terms of survival rate of patients. …”
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2428
A Maternal Loss‐of‐Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report
Published 2025-01-01“…ABSTRACT Background The KHDC3L gene encodes a component of the subcortical maternal complex (SCMC). Biallelic mutations in this gene cause 5%–10% of biparental hydatidiform moles (BiHM), and a few maternal deletions in KHDC3L have been identified in women with recurrent pregnancy loss (RPL). …”
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2429
The promising role of nanopore sequencing in cancer diagnostics and treatment
Published 2025-04-01“…In the context of DNA analysis, nanopore sequencing excels in identifying structural variations (SVs), copy number variations (CNVs), gene fusions within SVs, and mutations in specific genes, including those involving DNA modifications and DNA adducts. …”
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2430
Identification of Differentially Expressed Genes in Pituitary Adenomas by Integrating Analysis of Microarray Data
Published 2015-01-01“…Altered gene expression as well as somatic mutations is detected frequently in pituitary adenomas. …”
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2431
A review of vitamin D deficiency and vitamin D receptor polymorphisms in endocrine-related disorders
Published 2025-01-01“…In the past few decades, the human skin has been identified as an important peripheral endocrine organ that is the main site for the synthesis of vitamin D through exposure to sunlight. Mutations in downstream vitamin D-related gene pathways are associated with disease development. …”
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2432
Severe Cases of Tick-Borne Encephalitis in Northeastern Poland
Published 2024-12-01“…The few risk factors shown in our patients and the serious sequelae of the disease may indicate the need to test patients for possible gene mutations.…”
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2433
Targeting the Heart of Mycobacterium: Advances in Anti-Tubercular Agents Disrupting Cell Wall Biosynthesis
Published 2025-01-01“…<i>Mycobacterium tuberculosis</i> infections continue to pose a significant global health challenge, particularly due to the rise of multidrug-resistant strains, random mycobacterial mutations, and the complications associated with short-term antibiotic regimens. …”
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2434
Enabling next-generation engineered TCR-T therapies based on high-throughput TCR discovery from diagnostic tumor biopsies
Published 2025-01-01“…Through the identification of neoantigen-specific TCRs directly from melanoma as well as low tumor mutational burden microsatellite-stable colorectal carcinoma samples, we demonstrate the pan-cancer potential of this platform.…”
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2435
Molecular Mechanisms Underlying Resistance to <i>Bacillus thuringiensis</i> Cry Toxins in Lepidopteran Pests: An Updated Research Perspective
Published 2025-01-01“…Extensive research has demonstrated that mutations and alterations in expression patterns of midgut receptor genes are closely associated with <i>Bt</i> resistance. …”
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2436
The WAVE complex in developmental and adulthood brain disorders
Published 2025-01-01“…Notably, dysregulation of the WAVE complex and WAVE complex-mediated cellular processes confers vulnerability to a variety of brain disorders. De novo mutations in WAVE genes and other components of the WAVE complex have been identified in patients with developmental disorders such as intellectual disability, epileptic seizures, schizophrenia, and/or autism spectrum disorder. …”
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2437
Genomic characterization of chronic lymphocytic leukemia in patients of African ancestry
Published 2025-02-01“…We sequenced 59 putative driver genes and found an increased frequency of high-impact mutations in AA CLL, including genes of the DNA damage repair (DDR) pathway. …”
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2438
YAT2150 is irresistible in Plasmodium falciparum and active against Plasmodium vivax and Leishmania clinical isolates
Published 2025-01-01“…Using single-dose and ramping methods, assays were done to select Plasmodium falciparum parasites resistant to YAT2150 concentrations ranging from 3× to 0.25× the in vitro IC50 of the compound (in the two-digit nM range) and performed a cross-resistance assessment in P. falciparum lines harboring mutations that make them resistant to a variety of antimalarial drugs. …”
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2439
Defective homologous recombination and genomic instability predict increased responsiveness to carbon ion radiotherapy in pancreatic cancer
Published 2025-01-01“…These findings suggest that PDAC tumors with HR pathway mutations or high replication stress are more likely to benefit from CIRT while minimizing normal tissue toxicity.…”
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2440
Case report: Advanced age at transplantation and pre-emptive treatment with dupilumab in DOCK8 deficiency
Published 2025-01-01“…Dedicator of cytokinesis 8 (DOCK8) deficiency is a combined immunodeficiency (CID) due to biallelic mutations in the gene encoding DOCK8. Major clinical phenomena are recurrent severe infections of the lungs and skin, atopic eczema, and predisposition to malignancy leading to a poor prognosis. …”
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