Publications by authors named "Gregory Omerza"

Background: Meningiomas are the most common intracranial tumors. Recent advancements in the genetic profiling of tumors have allowed information including DNA copy number analysis, mutational analysis, and RNA sequencing to be more frequently reported, in turn allowing better characterization of meningiomas. In recent years, analysis of tumor methylomes that reflects both cell-origin methylation signatures and somatically acquired DNA methylation changes has been utilized to better classify meningiomas with great success.

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  • Up to 80% of SARS-CoV-2 infections are asymptomatic, but these individuals can still spread the virus, highlighting a need to understand why some people show symptoms while others do not.
  • This study analyzed viral genetic variants and transcript variations in samples from both symptomatic and asymptomatic patients using advanced genomic techniques.
  • Findings indicate that symptomatic infections have higher levels of specific viral RNA expressions and unique genetic deletions, suggesting a link between these factors and the severity of COVID-19, which could inform future treatment and vaccine strategies.
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  • - The study analyzed 95 gynecologic cancer cases using The JAX ActionSeq™ NGS panel to explore molecular features and how they relate to clinical outcomes for precision medicine.
  • - Researchers found 146 unique clinically significant genetic variants across various cancer-related genes, with TP53 and PTEN being the most frequently mutated.
  • - The findings emphasize the role of specific mutations in gynecologic cancers, especially those related to DNA damage response, which could inform targeted therapies like PARP inhibitors.
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The World Health Organization (WHO) has defined more than 130 distinct central nervous system (CNS) tumor entities, of which glioblastoma is the most fatal primary brain tumor. However, the correlation of the molecular signatures of glioblastoma with clinical significance for precision medicine is not well-known. How, and to what extent these variants may affect clinical decision making remains uncertain.

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Objective: The study aimed to retrospectively evaluate the positive yield rate of a custom 212-gene next-generation sequencing (NGS) panel, the JAX ActionSeq™ assay, used in molecular profiling of solid tumors for precision medicine.

Methods: We evaluated 261 cases tested over a 24-month period including cancers across 24 primary tissue types and report on the mutation yield in these cases.

Results: Thirty-three of the 261 cases (13%) had no detectable clinically significant variants.

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  • - Lynch syndrome (LS) is a genetic condition caused by mutations in DNA mismatch repair (MMR) genes, which increases cancer risk; identifying harmful mutations is crucial for diagnosis.
  • - Missense variants can complicate diagnosis due to their uncertain effects on disease progression, necessitating research to understand their impact on protein function.
  • - The study developed a new in-cellulo functional assay using CRISPR-Cas9 to analyze specific MSH2 variants in human stem cells, successfully evaluating the MMR function of eight out of ten variants, which may help identify patients at higher risk for LS.
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Smk1 is a mitogen-activated protein kinase (MAPK) family member in the yeast Saccharomyces cerevisiae that controls the postmeiotic program of spore formation. Ssp2 is a meiosis-specific protein that activates Smk1 and triggers the autophosphorylation of its activation loop. A fragment of Ssp2 that is sufficient to activate Smk1 contains two segments that resemble RNA recognition motifs (RRMs).

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Smk1 is a meiosis-specific MAP kinase (MAPK) in budding yeast that is required for spore formation. It is localized to prospore membranes (PSMs), the structures that engulf haploid cells during meiosis II (MII). Similar to canonically activated MAPKs, Smk1 is controlled by phosphorylation of its activation-loop threonine (T) and tyrosine (Y).

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Smk1 is a meiosis-specific mitogen-activated protein kinase (MAPK) in that couples spore morphogenesis to the completion of chromosome segregation. Similar to other MAPKs, Smk1 is controlled by phosphorylation of a threonine (T) and a tyrosine (Y) in its activation loop. However, it is not activated by a dual-specificity MAPK kinase.

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Smk1 is a meiosis-specific MAPK that controls spore wall morphogenesis in Saccharomyces cerevisiae. Although Smk1 is activated by phosphorylation of the threonine (T) and tyrosine (Y) in its activation loop, it is not phosphorylated by a dual-specificity MAPK kinase. Instead, the T is phosphorylated by the cyclin-dependent kinase (CDK)-activating kinase, Cak1.

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Smk1 is a meiosis-specific mitogen-activated protein kinase (MAPK) in Saccharomyces cerevisiae that controls spore morphogenesis. Similar to other MAPKs, it is controlled by dual phosphorylation of its T-X-Y activation motif. However, Smk1 is not phosphorylated by a prototypical MAPK kinase.

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