Publications by authors named "Olga A Mamaeva"

Kawasaki disease (KD) is a multisystem inflammatory illness of infants and young children that can result in acute vasculitis. The mechanism of coronary artery aneurysms (CAA) in KD despite intravenous gamma globulin (IVIG) treatment is not known. We performed a Whole Genome Sequencing (WGS) association analysis in a racially diverse cohort of KD patients treated with IVIG, both using AHA guidelines.

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  • Kawasaki disease (KD) is a serious inflammatory condition in young children that can lead to dangerous heart issues, specifically aneurysms in coronary arteries, and the reasons for these issues despite treatment remain unclear.
  • This study utilized Whole Genome Sequencing to explore genetic links to coronary artery aneurysms in a diverse group of KD patients treated with intravenous gamma globulin (IVIG), focusing on specific genetic variants.
  • Results revealed significant genetic variants associated with coronary aneurysm formation, identifying 12 important genomic risk loci that may help understand the disease's progression and improve patient management.
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  • African ancestry populations have the highest stroke burden globally, yet the genetic factors contributing to stroke in these groups are not well understood, prompting the SIREN study in West Africa to investigate this.
  • The study involved recruiting stroke patients and stroke-free controls to conduct a genome-wide association study (GWAS), leading to DNA analysis that identified significant SNPs near specific genes associated with stroke risk.
  • Key findings highlighted protective genetic variants near AADACL2 and MIR5186 on chromosome 3, as well as other notable associations on chromosomes 5, 6, 12, 16, and 18, which could provide insights for future stroke risk assessment in these populations.
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Background: Chemoradiation therapy (CRT) is the standard of care for squamous cell carcinoma of the anus (SCCA), the most common type of anal cancer. However, approximately one fourth of patients still relapse after CRT.

Methods: We used RNA-sequencing technology to characterize coding and non-coding transcripts in tumor tissues from CRT-treated SCCA patients and compare them between 9 non-recurrent and 3 recurrent cases.

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  • Cognitive processing speed is crucial for daily activities in individuals with mild cognitive impairment (MCI), yet its effects haven't been fully explored alongside Alzheimer's disease (AD) risk factors.
  • A study involving 103 participants assessed how processing speed and AD biomarkers relate to daily functioning, mobility, and driving capabilities using statistical models.
  • The findings revealed that faster processing speed and certain brain markers (like SPARE-AD) correlate strongly with better performance in daily tasks and driving, emphasizing processing speed's importance in the lives of those with MCI.
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The Apert syndrome is a rare congenital disorder most often arising from S252W or P253R mutations in fibroblast growth factor receptor (FGFR2). Numerous studies have focused on the regulatory role of Apert FGFR2 signaling in bone formation, whereas its functional role in tooth development is largely unknown. To investigate the role of FGFR signaling in cell proliferation and odontogenic differentiation of human dental cells in vitro, we isolated dental pulp and enamel organ epithelia (EOE) tissues from an Apert patient carrying the S252W FGFR2 mutation.

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Singleton-Merten syndrome (SMS) is a rare disease with a phenotype of dental dysplasia. Currently, the underlying mechanism of this disease is unknown. In order to investigate the functional mechanism of the SMS tooth phenotypes, we isolated dental pulp tissue and established SMS primary pulp cells.

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To explore gene therapy strategies for amelogenesis imperfecta (AI), a human ameloblast-like cell population was established from third molars of an AI-affected patient. These cells were characterized by expression of cytokeratin 14, major enamel proteins and alkaline phosphatase staining. Suboptimal transduction of the ameloblast-like cells by an adenovirus type 5 (Ad5) vector was consistent with lower levels of the coxsackie-and-adenovirus receptor (CAR) on those cells relative to CAR-positive A549 cells.

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Notch signaling is associated with prostate osteoblastic bone metastases and calcium/calmodulin-dependent kinase II (CaMKII) is associated with osteoblastogenesis of human mesenchymal stem cells. Here we show that prostate cancer cell lines C4-2B and PC3, both derived from bone metastases and express Notch-1, have all four isoforms of CaMKII (alpha, beta, gamma, delta). In contrast, prostate cancer cell lines LNcaP and DU145, which are not derived from bone metastases and lack the Notch-1 receptor, both lack the alpha isoform of CaMKII.

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