3855 results for "*geneti*"

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• Comprehensive analyses of genetic aberrations in cholangiolocarcinoma

  The nature of CLC is still unclear and its pathological classification still remains controversial. To clarify the positioning of CLC among primary liver cancers, and to find characteristics that could distinguish CLC from other liver cancers.

  Study JGAS000597

• Integrated Exome and RNA Sequencing of Dedifferentiated Liposarcoma

  Multiomics analysis of rare cancers to identify genetic alterations related with pathogenesis and prognosis. To identification of genetics alterations of Dedifferentiated liposarcoma, DNAs and RNAs were extracted from dedifferentiated liposarcoma and paired non-cancer (normal) tissues. NGS libaraies were prepared by using Agilent SureSelect XT Human All Exon V5 + IncRNA kit for whole exome sequencing (WES) and TruSeq Stranded mRNA Prep kit or TruSeq RNA Access Library Prep kit (RNA seq). Sequencing was perfomred by Illumina HiSeq 2500.

  Study JGAS000177

• Comprehensive analyses of clinicopathological features and genomic mutations of combined hepatocellular-cholangiocarcinoma

  Combined hepatocellular and cholangiocarcinoma (cHCC-CCA) is a rare primary liver cancer. We performed whole exome sequencing to clarify the relationship between genetic mutations and clinicopathological features in cHCC-CCA.

  Study JGAS000599

• mutation analysys of Gorlin syndrome

  Gorlin syndrome is a genetic disorder of autosomal dominant inheritance that predisposes the affected individual to a variety of disorders that are attributed largely to heterozygous germline patched1 (PTCH1) mutations. PTCH1 is a hedgehog (Hh) receptor as well as a repressor, mutation of which leads to constitutive activation of Hh pathway. Hh pathway encompasses a wide variety of cellular signaling cascades, which involve several molecules; however, no associated genotype?phenotype correlations have been reported. Recently, mutations in Suppressor of fused homolog (SUFU) or PTCH2 were reported in patients with Gorlin syndrome. These facts suggest that multi-layered mutations in Hh pathway may contribute to the development of Gorlin syndrome. We demonstrated multiple mutations of Hh-related genes in addition to PTCH1, which possibly act in an additive or multiplicative manner and lead to Gorlin syndrome. High-throughput sequencing was performed to analyze exome sequences in four unrelated Gorlin syndrome patient genomes. Mutations in PTCH1 gene were detected in all four patients. Specific nucleotide variations or frameshift variations of PTCH1 were identified along with the inferred amino acid changes in all patients. We further filtered 84 different genes which are closely related to Hh signaling. Fifty three of these had enough coverage of over ?30. The sequencing results were filtered and compared to reduce the number of sequence variants identified in each of the affected individuals. We discovered three genes, PTCH2, BOC, and WNT9b, with mutations with a predicted functional impact assessed by MutationTaster2 or PolyPhen-2 (Polymorphism Phenotyping v2) analysis. It is noticeable that PTCH2 and BOC are Hh receptor molecules. No significant mutations were observed in SUFU. Multi-layered mutations in Hh pathway may change the activation level of the Hh signals, which may explain the wide phenotypic variability of Gorlin syndrome.

  Study JGAS000099

• Whole genome sequencing and mutation rate analysis of Vietnamese trios with paternal dioxin exposure

  2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) or dioxin, is commonly considered the most toxic man-made substance, and from 1962 to 1971, more than 19 million gallons of Agent Orange (AO) and other toxic chemicals contaminated with dioxin were sprayed in South of Vietnam. Dioxin exposure impacts human health and diseases, and birth defects and teratogenesis were frequently observed in children of persons who have been exposed to dioxin in Vietnam. However, the impact of dioxin on human mutation rate has not yet been analyzed. To identify and characterize the genetic alterations in the individuals exposed to dioxin, we perfomed whole genome sequencing of nine Vietnamese trios whose fathers were exposed to dioxin.

  Study JGAS000137

• Genetic analysis in lifestyle-related disease, arteriosclerotic disease, and aging-related diseases.

  Exome sequence analysis was conducted in patients with hypertension (Stage 3). Rare variants in candidate susceptible genes discovered by previous GWASs were prioritised and further analysed for an additional case-control association study.

  Study JGAS000016

• DNA methylation dynamics during early human development

  DNA methylation is globally reprogrammed during mammalian preimplantation development, which has been well characterized in the mouse but not in other mammals. Here we report on the single base-resolution DNA methylome of human gametes and blastocysts. Near complete demethylation of the paternal genome was apparent, except for tandem repeat-containing CpG-rich regions, whereas the maternal genome was essentially resistant to replication-dependent global demethylation. The human oocyte methylome was characterized by a unique bimodal distribution of gene body methylation, a particular promoter methylation profile and a high proportion of hypomethylated transposable elements. Methylome and transcriptome comparisons between the human and mouse suggested species-specific regulation of many genes including the important DNA methylation regulators. Our findings are essential to understand the unique gene regulatory mechanisms during early human development and will facilitate preimplantation epigenetic diagnosis of human embryos.

  Study JGAS000006

• Genome sequence comparison of human iPS cell lines

  We performed whole genome sequencing analysis on human iPSC lines to understand the impact of genetic variations on clonal epigenetic variations.

  Study JGAS000310

• Clonal structure and oncogenic potential of liver cirrhosis tissues.

  Hepatocellular carcinoma (HCC) recurrently develops in cirrhotic liver composed of numbers of regenerative nodules (RNs). The biologic or genetic basis of RNs for hepatocarcinogenesis remains unclear at present. Thus, to uncover the basis of cirrhotic liver for multicentric tumorigenesis, we investigated the oncogenic potential of RNs in LC tissues using multi-omics analysis.

  Study JGAS000134

• Comprehensive genomic analysis of patient derived orthotopic xenograft model in primary central nervous system lymphoma

  The purpose of this study is to investigate genetic background of orthotopic xenograft cells and aseess consistency with parent tumor cells. For exome sequencing, we used two distinct PCNSL cells (YML9 and YML11). We also performed RNA sequencing for 7 PCNSL patient tumor cells to compare NF-kB pathway activation.

  Study JGAS000178