Analysis of biased allelic enhancer activity of schizophrenia-linked common variants.

Schizophrenia is a neuropsychiatric disorder with heritability estimates between 60% and 80%. Although genome-wide association studies have identified many genetic loci linked to the disorder, most of these are noncoding variants whose functional impacts are not well understood. To bridge this gap, we prioritized potential functional variants linked to schizophrenia by utilizing a human brain epigenomic roadmap.

Risk and clinical implications of histological transformation in extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue: A population-based analysis.

Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT) is the third most prevalent subtype of mature B-cell lymphomas. While MALT lymphoma typically has a favorable prognosis, the outlook can worsen dramatically if histological transformation (HT) occurs, usually into a more aggressive form like diffuse large B-cell lymphoma (DLBCL). Large-scale study with long-term follow-up specifically focused on the transformation of MALT lymphoma is limited.

Reassessing the relationship between major depressive disorder and blood lipids: a comprehensive Mendelian randomisation study.

Background: Numerous studies have consistently demonstrated that a considerable proportion of patients with major depressive disorder (MDD) frequently exhibit pronounced dyslipidaemia. However, the causal dynamics between MDD and dyslipidaemia remain elusive.

Aims: To comprehensively disentangle the genetic causality between MDD and various phenotypes of blood lipids, thereby facilitating the advancement of management strategies for these conditions.

Analysis and characterization of extrachromosomal circular DNA in prostate cancer: Potential biomarker discovery from urine, plasma, and tumor samples.

Extrachromosomal circular DNA (eccDNA) may contribute to genomic rearrangements and tumor heterogeneity, playing a role in cancer development and progression. This study evaluates eccDNA as a biomarker for prostate cancer by characterizing its profiles in urine, plasma, and tumor tissues from patients at different disease stages. We studied 49 prostate cancer patients (23 early-stage; 26 late-stage, including 19 with metastasis), 23 patients with prostatitis, and 21 healthy individuals.

Clinicopathological characteristics and genomic profiling in patients with transformed lymphoma: a monocentric retrospective study.

Background: Transformed lymphoma occurs when indolent lymphoma transforms into more aggressive lymphoma usually associated with poor prognosis.

Methods: In this study, we analysed the immunophenotypes, prognostic factors and outcomes of 35 patients with transformed lymphoma from among 306 marginal zone lymphoma (MZL), 544 follicular lymphoma (FL) and 871 chronic lymphocytic leukaemia/small lymphocytic lymphoma (CLL/SLL) cases. In addition, we performed whole-exome sequencing study of seven transformed MZL (tMZL) cases.

The Contribution of Mosaic Chromosomal Alterations to Schizophrenia.

Background: Mosaic chromosomal alterations are implicated in neuropsychiatric disorders, but the contribution to schizophrenia (SCZ) risk for somatic copy number variations (sCNVs) emerging in early developmental stages has not been fully established.

Methods: We analyzed blood-derived genotype arrays from 9715 patients with SCZ and 28,822 control participants of Chinese descent using a computational tool (MoChA) based on long-range chromosomal information to detect mosaic chromosomal alterations. We focused on probable early developmental sCNVs through stringent filtering.

Mitochondrial genome variation and intergenomic sequence transfers in species.

Among the species, rubber tree () is the most important source of natural rubber. In previous studies, we sequenced the complete nuclear and chloroplast genomes of species, providing an invaluable resource for studying their phylogeny, disease resistance, and breeding. However, given that plant mitochondrial genomes are more complex and more difficult to assemble than that of the other organelles, little is known about their mitochondrial genome, which limits the comprehensive understanding of genomic evolution.

Role of Rituximab in Treatment of Patients With Primary Central Nervous System Lymphoma (PCNSL): A Systematic Review and Meta-Analysis.

Primary central nervous system lymphoma (PCNSL) is a rare form of non-Hodgkin's lymphoma involving the brain, cerebrospinal fluid, spinal cord and eyes. Rituximab has played a prominent role in the treatment of non-Hodgkin's B-cell lymphomas, including aggressive diffuse large B lymphoma. However, as a macromolecular drug, the role of rituximab in the treatment of PCNSL has been controversial.

Tumor-associated M2 macrophages in the immune microenvironment influence the progression of renal clear cell carcinoma by regulating M2 macrophage-associated genes.

Background: Renal clear cell carcinoma (RCC) has negative prognosis and high mortality due to its early diagnosis difficulty and early metastasis. Although previous studies have confirmed the negative progression of RCC is closely related to M2 macrophages in tumor-associated macrophages (TAMs), the specific mechanism is still unknown.

Methods: We used immunofluorescence labeling and flow cytometry to detect the proportion of M2 macrophages in RCC tissues.

Comparative analysis of the chloroplast genomes of Rosa species and RNA editing analysis.

Background: The genus Rosa (Rosaceae) contains approximately 200 species, most of which have high ecological and economic values. Chloroplast genome sequences are important for studying species differentiation, phylogeny, and RNA editing.

Results: In this study, the chloroplast genomes of three Rosa species, Rosa hybrida, Rosa acicularis, and Rosa rubiginosa, were assembled and compared with other reported Rosa chloroplast genomes.

Cinnamaldehyde causes developmental neurotoxicity in zebrafish the oxidative stress pathway that is rescued by astaxanthin.

Toxicology studies provide a reliable dose range for the use of compounds. Zebrafish show unique advantages in toxicology research. Cinnamaldehyde (Cin) is one of the main active compounds isolated from trees and other species of the genus .

Association analysis of risk genes identified by SCHEMA with schizophrenia in the Chinese Han population.

Background: Schizophrenia is a chronic brain disorder. Previously, the Schizophrenia Exome Sequencing Meta-analysis consortium identified 10 highest risk genes related to schizophrenia. This study aimed to analyze the relationship between the 10 highest risk genes identified by the SCHEMA and schizophrenia in a Chinese population.

Whole-exome sequencing of a patient with primary central nervous system T-cell lymphoma: Clinicopathological features and genomic profiling.

Primary central nervous system T-cell lymphoma (T-PCNSL) is a rare neoplasm, and its underlying genetic features are poorly understood. Herein, we present the case of a 64-year-old man with T-PCNSL who presented with left-side limb weakness. Brain magnetic resonance imaging revealed a right parietal space-occupying lesion.

Expression and Clinical Significance of Th1/Th2/Th17 Cytokines and Lymphocyte Subsets in PCNSL.

Purpose: Primary central nervous system lymphoma (PCNSL) responds favorably to radiation, chemotherapy and targeted drug therapy. However survival is usually worse, the treatment-related drug resistance and recurrence are still clinical problems to be solved urgently. Studies have shown that cytokines are expressed in varying degrees in patients with lymphoma, which is significantly related to the progression, poor prognosis and drug resistance of lymphoma.

Complete mitochondrial genomes of three Mangifera species, their genomic structure and gene transfer from chloroplast genomes.

Background: Among the Mangifera species, mango (Mangifera indica) is an important commercial fruit crop. However, very few studies have been conducted on the Mangifera mitochondrial genome. This study reports and compares the newly sequenced mitochondrial genomes of three Mangifera species.

Machine learning enables discovery of Gentianine targeting TLR4/NF-κB pathway to repair ischemic stroke injury.

Inflammatory response is believed to accelerate the development of stroke injury. Gentianine, an alkaloid isolated from Gentiana Scabra Bunge, shows effectiveness in anti-inflammation. In this study, the effect of Gentianine on transient middle cerebral artery occlusion (tMCAO) induced mouse model in vivo and further related mechanism in LPS-injuried microglia BV-2 cells in vitro were explored.

Genetic risk of clozapine-induced leukopenia and neutropenia: a genome-wide association study.

Background: Clozapine is considered to be the most effective antipsychotic medication for schizophrenia. However, it is associated with several adverse effects such as leukopenia, and the underlying mechanism has not yet been fully elucidated. The authors performed a genome-wide association study (GWAS) in a Chinese population to identify genetic markers for clozapine-induced leukopenia (CIL) and clozapine-induced neutropenia (CIN).

Trans-Ancestry Mutation Landscape of Hepatoblastoma Genomes in Children.

Hepatoblastoma (HB) is the most common malignant tumor in the liver of infants and young children. The incidence rate varies among different populations. However, genetic differences in HB patients with different epidemiological and ancestral backgrounds have not been found.

Comparative analysis of the complete plastid genomes of species and gene transfer between plastid and mitochondrial genomes.

Mango is an important commercial fruit crop belonging to the genus Mangifera. In this study, we reported and compared four newly sequenced plastid genomes of the genus Mangifera, which showed high similarities in overall size (157,780-157,853 bp), genome structure, gene order, and gene content. Three mutation hotspots (, and ) were identified as candidate DNA barcodes for Mangifera.

The complete chloroplast genome sequence of .

Here we report the chloroplast genome sequence of . This rose grows in warm climates, it has been reported as an endangered species. The complete chloroplast genome size was 157,396 bp, and exhibited a quadripartite structure with dual inverted repeats (IRs) regions (26,041 bp), a small single-copy (SSC) region (18,775 bp), and a large single-copy (LSC) region (86,539 bp).

Sequence and phylogenetic analysis of the chloroplast genome for .

is a wild shrub rose that is native to open slopes and scrubby areas in central China. In this study, the chloroplast genome sequence of been assembled and characterized by Illumina sequencing. The complete chloroplast genome was 157,214 bp in length, containing a large single-copy region (LSC) of 86,302 bp and a small single-copy region (SSC) of 18,770 bp, which were separated by a pair of 26,071 bp inverted repeat regions (IRs), each.

Copy Number Analysis Reveal Genetic Risks of Penile Cancer.

Objectives: To evaluate copy number alterations (CNAs) in genes associated with penile cancer (PeC) and determine their correlation and prognostic ability with PeC.

Methods: Whole-exome sequencing was performed for tumor tissue and matched normal DNA of 35 patients diagnosed with penile squamous cell carcinoma from 2011 to 2016. Somatic CNAs were detected using the Genome Analysis Toolkit (GATK).

Characterization of Chloroplast Genomes From Two Medicinal Plants and Gene Transfer Among Their Mitochondrial and Chloroplast Genomes.

species have been widely used as medicinal plants and have played an important role in the treatment and recovery of individuals with COVID-19. In this study, we reported two newly identified whole chloroplast genome sequences of medicinal plants ( and f. ) and compared them with those of seven other reported chloroplast genomes.