4015 results for "*geneti*"

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• Comprehensive survey for the construction of an integrated database of food, gut microbiome, and health information (the "Sukoyaka Health Survey") A data collection study exploring the relationship between the gut microbiome, food, health, and the genome.

  We conducted a cohort-based study to investigate the association between the genetic background and diet/lifestyle in 51 healthy Japanese. We analyzed some participants living in Nagahama. The SNP array (Japonica Array v2) was used for genotyping. Shotgun metagenomic sequencing of fecal microbiome were analyzed.

  Study JGAS000680

• Chromatin accessibility in stem cells unveils progressive transcriptional reprogramming in myelodysplastic syndrome

  Myelodysplastic syndromes (MDS) originate from hematopoietic stem cell (HSC) clones with acquired gene mutations/deletions. However, our knowledge on the epigenetic properties of MDS stem cells are limited. Here, we examined chromatin accessibility of MDS stem cells. Chromatin accessibility profiles of MDS stem cells represented the disease status better than progenitor cells and unveiled the process of stem cell reprograming during disease progression. Characterization of differentially accessible regions (DARs) revealed that MDS stem cells acquire progenitor-like chromatin accessibility with disease progression, resulting in imprecise stem-progenitor hierarchy. Profiling of transcriptional factor binding motifs at DARs revealed precocious inactivation and activation of HSC and myeloid transcriptional networks, respectively, in MDS stem cells. Increased chromatin accessibility at CEBP target sites well represented the myeloid reprograming of MDS stem cells and stratified MDS into distinct subgroups. Newly developed "Progenitor scores" based on chromatin accessibility well stratified the disease status and correlated with prognosis. These results highlight that the chromatin properties of MDS stem cells define the cell-autonomous behavior of MDS and disease progression.

  Study JGAS000718

• Amplicon sequencing of duodenal adenoma

  The aim of this study is to analyze the methylation and mutation status of non-ampullary duodenal lesions in order to detect the genetic changes for predicting the progression to adenocarcinomas.

  Study JGAS000352

• Deciphering molecular mechanisms underlying hematological malignancies and development of novel therapeutic approaches

  We aim to identify epigenomic features dysregulated in hematological malignancies through epigenetic analyses of hematological malignant cells. We also perform RNA sequencing to profile tumor cell-specific transcriptomes and target gene sequencing to profile somatic gene mutations in tumor cells. Regarding identified epigenomic abnormalities, we perform further analysis to determine whether they could be good candidates to translate into therapy development. To this end, we will modulate the activity of targets by using their activators and inhibitors in vitro and establish xenograft mouse models of hematological malignancies and manipulate their activity in vivo. Through these studies, we aim to develop new therapeutic agents or modalities that lead to improved patients��� prognosis.

  Study JGAS000603

• Analysis of genes associated with autistic spectrum disorder, schizophrenia, and bipolar disorder.

  Autism spectrum disorders (ASD) represent a heterogeneous group of neurodevelopmental disorders with strong genetic predispositions. Although an increasing number of genetic variants have been implicated in the pathogenesis of ASD, little is known about the relationship between ASD-associated genetic variants and individual ASD traits. We performed case-control association study of 32 Japanese children with ASD (mainly with high-functioning autism) and 36 with typical development.

  Study JGAS000731

• Whole genome sequencing of human induced pluripotent stem cells derived from 5 type I cyctic biliary atresia patients

  We have successfully generated a panel of human induced pluripotent stem cells (hiPSCs) from five Japanese patients carrying type I cystic biliary atresia (BA). These hiPSC lines have exhibited characteristics of self-renewal and pluripotency. These cells held normal karyotypes mostly, but one of them carried hemizygous deletions, of which clinical significance is unknown yet. Whole genome sequence analysis indicated that some of the mutations or single nucleotide polymorphisms (SNPs) commonly found in these patients are related to hepatobiliary abnormality. Given the limited understanding of the molecular pathogenesis of cystic BA, attributed to unknown factors of genetic and environmental causes, these cellular resources will be instrumental in replicating disease phenotypes and in the advancement of novel therapies for this condition.

  Study JGAS000765

• Comprehensive survey for the construction of an integrated database of food, gut microbiome, and health information (the "Sukoyaka Health Survey"). A study on the relationship between food and health and genetic background.

  We conducted a cohort-based study to investigate the association between the genetic background and diet/lifestyle in 50 healthy Japanese. We analyzed some participants living in Miyazaki. The SNP array (Japonica Array v2) was used for genotyping. Shotgun metagenomic sequencing of fecal microbiome and metabolome of feces and blood were analyzed.

  Study JGAS000679

• Multi-omic profiling of patient-derived pancreatic tumor organoids

  We conducted multi-omic profiling of patient-derived pancreatic cancer organoids and genetically engineered normal pancreas organoids.

  Study JGAS000719

• Application of organoid culture system of human gastrointestinal and thoracic cancer in genome medicine

  In order to establish preclinical models, we have established three kinds of lung cancer tumoroids derived from three different pulmonary large cell neuroendocrine carcinoma patients. We performed whole exome sequencing to analyze genetic background of these kinds of tumoroids.

  Study JGAS000641

• Exome analysis of cardiomyopathy patients with TNNT2 variant

  This research aims to identify genetic background of cardiomyopathy patients with TNNT2 pathogenic variants by exome analysis.

  Study JGAS000567