257 results match your criteria: "Sasaki Institute.[Affiliation]"

Article Synopsis
  • - Gout is a chronic condition caused by the immune system's reaction to monosodium urate crystals due to high uric acid levels, and recent research sheds light on its inflammatory mechanisms.
  • - A large genome-wide association study (GWAS) involving 2.6 million people identified 377 genetic locations linked to gout, with a focus on 149 new loci related to urate and gout inflammation.
  • - The study also pinpointed candidate genes influencing the inflammatory response in gout, including those affecting NLRP3 inflammasome activity, and suggests a potential causal role of specific genetic factors in developing the disease.
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  • * In a cohort of 51 CRC patients from Rwanda, TP53 variants were found in 45.1% of cases, primarily of the missense type, with notable mutations including c.455dup, c.524G>A, and c.733G>A, and a predominance of specific mutation sequences.
  • * The study also revealed that most TP53 mutations were associated with the CMS2 subtype, suggesting that these variants may play a significant role in the development of this
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  • The study explores how dietary habits may influence the prevention and management of schizophrenia (SCZ) and bipolar disorder (BD) in older adults, particularly in relation to genetic predispositions and lifestyle-related diseases.
  • A cohort of 730 older patients was assessed for their dietary habits across various food categories while calculating polygenic risk scores (PRSs) for SCZ and BD based on large-scale genetic studies.
  • Findings indicated that higher genetic risk for SCZ and BD is correlated with lower consumption of nutrient-rich foods like light-colored vegetables and soybeans, with notable differences in dietary impacts between types of BD, especially BD I.
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Bioinformatic Identification of TP53 Gene Mutation Hotspots in Colorectal Cancer.

Int J Mol Sci

June 2024

Department of Pathology, "George Emil Palade" University of Medicine, Pharmacy, Science and Technology of Targu Mures, 540139 Targu Mures, Romania.

Article Synopsis
  • Mutations in the TP53 gene are commonly found in various cancers, particularly in colorectal carcinoma.
  • The study utilized bioinformatics to identify mutation hotspots in the TP53 gene by comparing sequences from 50 healthy individuals to those from 50 patients with colon cancer.
  • Findings showed that the most frequent mutations were in exons 5 and 8, indicating an uneven distribution of mutations, and underscoring that not all structural changes in the gene lead to increased cancer susceptibility, highlighting a multifactorial approach to cancer pathology.
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Heterocellular Adhesion in Cancer Invasion and Metastasis: Interactions between Cancer Cells and Cancer-Associated Fibroblasts.

Cancers (Basel)

April 2024

Department of Cancer Cell Research, Sasaki Institute, Sasaki Foundation, 2-2 Kandasurugadai, Chiyoda-ku, Tokyo 101-0062, Japan.

Cancer invasion is a requisite for the most malignant progression of cancer, that is, metastasis. The mechanisms of cancer invasion were originally studied using in vitro cell culture systems, in which cancer cells were cultured using artificial extracellular matrices (ECMs). However, conventional culture systems do not precisely recapitulate in vivo cancer invasion because the phenotypes of cancer cells in tumor tissues are strongly affected by the tumor microenvironment (TME).

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  • Lynch syndrome-linked endometrial cancer can involve multiple tumors in different locations, impacting treatment approaches.*
  • A 27-year-old woman with such tumors was diagnosed with endometrial cancer and had family history suggesting Lynch syndrome, confirmed by genetic testing showing MLH1 mutations.*
  • Analysis of her tumors indicated a common clonal origin and genetic variations, highlighting the need for comprehensive evaluation in patients with synchronous tumors associated with Lynch syndrome.*
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Background: Gastric cancer is the sixth most frequently diagnosed cancer and third in causing cancer-related death globally. The most frequently mutated gene in human cancers is TP53, which plays a pivotal role in cancer initiation and progression. In Africa, particularly in Rwanda, data on TP53 mutations are lacking.

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Coprolites contain various kinds of ancient DNAs derived from gut micro-organisms, viruses, and foods, which can help to determine the gut environment of ancient peoples. Their genomic information should be helpful in elucidating the interaction between hosts and microbes for thousands of years, as well as characterizing the dietary behaviors of ancient people. We performed shotgun metagenomic sequencing on four coprolites excavated from the Torihama shell-mound site in the Japanese archipelago.

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IFN-alpha have been reported to suppress hepatitis B virus (HBV) cccDNA via APOBEC3 cytidine deaminase activity through interferon signaling. To develop a novel anti-HBV drug for a functional cure, we performed in silico screening of the binding compounds fitting the steric structure of the IFN-alpha-binding pocket in IFNAR2. We identified 37 compounds and named them in silico cccDNA modulator (iCDM)-1-37.

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Detection of APP gene recombinant in human blood plasma.

Sci Rep

December 2023

Laboratory of Human Genetics, National Institute of Genetics, 1111 Yata, Mishima, Shizuoka, 411-8540, Japan.

Article Synopsis
  • The accumulation of amyloid-β in the brain, resulting from the cleavage of amyloid precursor protein (APP), is a key factor in the development of Alzheimer's disease (AD).
  • Recent analysis of postmortem brain samples revealed the presence of APP gencDNAs, which may play a role in amyloid-β accumulation.
  • Computational analysis of sequence data from blood plasma indicated that APP gencDNAs can be detected in blood, suggesting their potential use as biomarkers for Alzheimer's disease.
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  • FAF1 is a protein linked to cell death that interacts with the Fas death receptor and has been noted to be downregulated in various cancers, but studies specifically related to lung cancer are limited.
  • This research focused on the role of FAF1 in non-small-cell lung cancer (NSCLC), examining its expression levels and impact on cancer cell behavior.
  • Findings revealed that high FAF1 expression correlates with poor prognosis, and reduced FAF1 levels lead to decreased cell viability and increased early apoptosis, suggesting FAF1 may contribute to the aggressive nature of NSCLC.
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BRCA1/2 mutations are robust biomarkers for platinum-based chemotherapy in epithelial ovarian cancers. However, BRCA1/2 mutations in clear cell ovarian carcinoma (CCC) are less frequent compared with high-grade serous ovarian cancer (HGSC). The discovery of biomarkers that can be applied to CCC is an unmet need in chemotherapy.

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TP53 mutations in Romanian patients with colorectal cancer.

Genes Environ

July 2023

Department of Tumor Pathology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-Ku, Shizuoka, 431-3192, Japan.

Background: Colorectal cancer (CRC) has been ranked as the second most deadly cancer and the third most diagnosed cancer cases for the year 2020. Specifically for Romania, the number of CRC-related deaths in 2019 was estimated at 6307 people, with a standardized mortality rate of 33.8 per 100,000 inhabitants.

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A 40-year-old female, who underwent transcatheter arterial embolization due to acute bleeding from an iliolumbar artery, was subsequently genetically diagnosed with vascular Ehlers-Danlos syndrome. She experienced chronic anemia for many years due to the easy bruising of her whole body. The bruising improved with oral administration of celiprolol hydrochloride.

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Article Synopsis
  • Cancer research in Rwanda accounts for less than 1% of Africa's total output, with limited studies on colorectal cancer (CRC), which predominantly affects younger females and often presents at an advanced stage.
  • Researchers conducted a study on CRC tissue mutations, focusing on specific genes, through Sanger sequencing of samples from 54 patients, revealing a high prevalence of low-grade tumors primarily in the rectum.
  • The study identified 27 genetic variants, including three novel deleterious mutations, and provided important genetic variations and clinical information regarding CRC in the Rwandan population.
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Background: Endoscopic submucosal dissection (ESD) is the standard treatment for early gastric cancer in Japan. Pathological evaluation of ESD specimens is considered essential to determine if additional gastrectomy is necessary. Usually, specimens resected by ESD are sliced into 2-3 mm wide sections, and each section is examined for depth of tumor and lymphovascular invasion.

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Human lactoferrin (hLF) is a glycosylated globular iron-binding protein with high functional versatility that elicits anticancer, neuroprotective, and anti-inflammatory effects. Some of the diverse functions of hLF are induced after its internalization into various cells via cell surface endocytosis receptors, such as proteoglycans, which contain glycosaminoglycan (GAG) chains. We have previously demonstrated that an hLF derivative comprising the N-terminal half of hLF (referred to as the N-lobe) is internalized by intestinal enterocyte Caco-2 cells.

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GC-MS analysis of exhaled gas for fine detection of inflammatory diseases.

Anal Biochem

June 2023

Institute of Clinical Medicine and Research, The Jikei University School of Medicine, Japan; Sasaki Institute, Sasaki Foundation, Japan.

Exhaled gas analysis is a non-invasive test ideal for continuous monitoring of biological metabolic information. We analyzed the exhaled gas of patients with inflammatory diseases for trace gas components that could serve as biomarkers that enable early detection of inflammatory diseases and assessment of treatment efficacy. Furthermore, we examined the clinical potential of this method.

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The sensitivity of the Grocott-modified Gomori's methenamine-silver nitrate technique for the detection of fungi is sometimes low, especially for spp. We modified the Grocott technique by replacing chromic acid with periodic acid in the oxidation step. The use of periodic acid instead of chromic acid enhanced the detectability of spp.

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Skin-related complications of insulin therapy have long been a problem as a factor interfering with insulin therapy. Among the traditional skin-related complications, lipoatrophy and insulin allergy have decreased markedly with the development of insulin preparations, but lipohypertrophy is still common in insulin-treated patients. Recently, there have been more reports of a skin-related complication called insulin-derived amyloidosis or insulin ball.

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Objective: This study prospectively observed the incidence of all malignancies and the prognosis of all patients in a population of patients who achieved Sustained Virological Response (SVR) with a 100% capture rate.

Design: A prospective study of 651 SVR cases was conducted from July 2013 to December 2021. The primary endpoint was the occurrence of all malignancies, and the secondary endpoint was overall survival.

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Article Synopsis
  • The study investigates the spatial genomic diversity of squamous cell carcinoma that develops from ovarian mature cystic teratomas (MCT-SCCs) by analyzing 16 samples from different tumor regions.
  • It finds significant histological variation in the tumors, with each showing distinct somatic mutation profiles and an APOBEC mutagenesis signature across all regions.
  • The research highlights that MCT-SCCs are highly heterogeneous, with differing clonal evolution patterns and genetic characteristics, emphasizing the need to assess genetic variations within the tumor for better understanding and treatment.
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Aim: Mutation spectrum of TP53 in gastric cancer (GC) has been investigated world-widely, but a comparison of mutation spectrum among GCs from various regions in the world are still sparsely documented. In order to identify the difference of TP53 mutation spectrum in GCs in Eastern Europe and in East Asia, we sequenced TP53 in GCs from Eastern Europe, Lujiang (China), and Yokohama, Kanagawa (Japan) and identified the feature of TP53 mutations of GC in these regions.

Subjects And Method: In total, 689 tissue samples of GC were analyzed: 288 samples from East European populations (25 from Hungary, 71 from Poland and 192 from Romania), 268 from Yokohama, Kanagawa, Japan and 133 from Lujiang, Anhui province, China.

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