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Comparative genomic
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Ebook "Eukaryotic membranes and cytoskeleton: Origins and evolution" discusses the evolutionary origin and diversification of eukaryotic endomembranes and cytoskeleton from a cell biological and comparative genomic perspective. Many of the chapters present original research data from comparative genomic surveys. The presence/absence of gene families with central roles in endomembrane and cytoskeleton dynamics in a variety of eukaryotic taxa and an understanding of eukaryote phylogeny allow us to accurately reconstruct the cellular machineries present in the last common ancestor of eukaryotes.
159p
ladongphongthanh1008
22-04-2024
7
2
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The genetic and immunological factors that contribute to differences in susceptibility and progression between sub-types of inflammatory and autoimmune diseases continue to be elucidated. Inflammatory bowel disease and juvenile idiopathic arthritis are both clinically heterogeneous and known to be due in part to abnormal regulation of gene activity in diverse immune cell types.
16p
vibransone
28-03-2024
2
2
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Mutation of the IL2RG gene results in a form of severe combined immune deficiency (SCID-X1), which has been treated successfully with hematopoietic stem cell gene therapy. SCID-X1 gene therapy results in reconstitution of the previously lacking T cell compartment, allowing analysis of the roles of T cell immunity in humans by comparing before and after gene correction.
14p
vibransone
28-03-2024
7
2
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We investigated the features of the genomic rearrangements in a cohort of 50 male individuals with proteolipid protein 1 (PLP1) copy number gain events who were ascertained with Pelizaeus-Merzbacher disease (PMD; MIM: 312080). We then compared our new data to previous structural variant mutagenesis studies involving the Xq22 region of the human genome.
17p
vibransone
28-03-2024
5
2
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The 2015 American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) guidelines for clinical sequence variant interpretation state that “well-established” functional studies can be used as evidence in variant classification.
19p
vibransone
28-03-2024
3
1
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Cyclophosphamide, doxorubicin, vincristine, and prednisolone (CHOP)/CHOP-like chemotherapy is widely used in peripheral T cell lymphoma (PTCL). Here we conducted a phase 2, multicenter, randomized, controlled trial, comparing the efficacy and safety of CEOP/IVE/GDP alternating regimen with CEOP in newly diagnosed PTCL.
13p
vibransone
28-03-2024
3
2
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APOBEC-driven mutagenesis and functional positive selection of mutated genes may synergistically drive the higher frequency of some hotspot driver mutations compared to other mutations within the same gene, as we reported for FGFR3 S249C. Only a few APOBEC-associated driver hotspot mutations have been identified in bladder cancer (BCa).
20p
vibransone
28-03-2024
6
2
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Multiple studies suggest a key role for gut microbiota in IgE-mediated food allergy (FA) development, but to date, none has studied it in the persistent state. The gut microbiota composition of allergic patients was significantly different compared to age-matched controls both in α-diversity and β-diversity.
18p
vibransone
28-03-2024
4
2
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Next-generation sequencing (NGS) is now more accessible to clinicians and researchers. As a result, our understanding of the genetics of neurodevelopmental disorders (NDDs) has rapidly advanced over the past few years. NGS has led to the discovery of new NDD genes with an excess of recurrent de novo mutations (DNMs) when compared to controls.
16p
vioraclene
31-03-2024
6
2
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A key step in cancer genome analysis is the identification of somatic mutations in the tumor. This is typically done by comparing the genome of the tumor to the reference genome sequence derived from a normal tissue taken from the same donor.
18p
vioraclene
31-03-2024
2
1
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Epigenetic alterations are associated with normal biological processes such as aging or differentiation. Changes in global epigenetic signatures, together with genetic alterations, are driving events in several diseases including cancer. Comparative studies of cancer and healthy tissues found alterations in patterns of DNA methylation, histone posttranslational modifications, and changes in chromatin accessibility.
12p
vibransone
28-03-2024
7
2
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Recent studies have indicated an association of gut microbiota and microbial metabolites with type 2 diabetes mellitus (T2D). However, large-scale investigation of the gut microbiota of “prediabetic” (PD) subjects has not been reported.
20p
vibransone
28-03-2024
3
2
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Many carcinomas have recurrent chromosomal aneuploidies specific to the tissue of tumor origin. The reason for this specificity is not completely understood. Methods: In this study, we looked at the frequency of chromosomal arm gains and losses in different cancer types from the The Cancer Genome Atlas (TCGA) and compared them to the mean gene expression of each chromosome arm in corresponding normal tissues of origin from the Genotype-Tissue Expression (GTEx) database, in addition to the distribution of tissue-specific oncogenes and tumor suppressors on different chromosome arms.
16p
vibransone
28-03-2024
2
2
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Vaginal microbiota (VMB) composition is altered in women with cervical intra-epithelial neoplasia (CIN) compared to healthy controls and is associated with disease progression. However, the impact of CIN excision on the VMB and innate immunity is not known. This observational study aims to explore the impact of CIN excision on the VMB, antimicrobial peptides (AMP) and proinflammatory cytokines.
18p
vibransone
28-03-2024
2
1
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Measuring host gene expression is a promising diagnostic strategy to discriminate bacterial and viral infections. Multiple signatures of varying size, complexity, and target populations have been described. However, there is little information to indicate how the performance of various published signatures compare to one another.
14p
viellison
28-03-2024
5
2
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Crohn’s disease (CD) patients demonstrate distinct intestinal microbial compositions and metabolic characteristics compared to unafected controls. However, the impact of inflammation and underlying genetic risk on these microbial profiles and their relationship to disease phenotype are unclear. We used lavage sampling to characterize the colonic mucosal-luminal interface (MLI) microbiome of CD patients in endoscopic remission and unafected controls relative to obesity, disease genetics, and phenotype
20p
viellison
28-03-2024
5
2
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Klebsiella pneumoniae (Kp) Gram-negative bacteria cause nosocomial infections and rapidly acquire antimicrobial resistance (AMR), which makes it a global threat to human health. It also has a comparatively rare hypervirulent phenotype that can lead to severe disease in otherwise healthy individuals.
12p
vicwell
29-02-2024
4
1
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Mixed phenotype acute leukemia (MPAL), a rare subgroup of leukemia characterized by blast cells with myeloid and lymphoid lineage features, is difficult to diagnose and treat. A better characterization of MPAL is essential to understand the subtype heterogeneity and how it compares with acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL).
25p
vicwell
29-02-2024
3
2
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Ebook "Monkeys, apes, and humans: Primatology in Japan" introduces to the reader unfamiliar with primatology in Japan three research projects representative of the unique multidisciplinary approach carried out by scientists at Kyoto University, the country’s premier institution for primate studies. The projects are all aimed at understanding the age-old questions, where did we come from, and what makes us unique or similar to our primate ancestors.
62p
manmanthanhla0201
26-02-2024
2
1
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Ebook "Molecular mechanisms in yeast carbon metabolism" provides a dozen of most comprehensive reviews on the recent developments and achievements in the field of yeast carbon metabolism, from academic studies on gene expression to biotechnology relevant topics.
328p
manmanthanhla0201
26-02-2024
4
1
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