scGAL: unmask tumor clonal substructure by jointly analyzing independent single-cell copy number and scRNA-seq data
Accurately deciphering clonal copy number substructure can provide insights into the evolutionary mechanism of cancer, and clustering single-cell copy number profiles has become an effective means to unmask in... (Source: BMC Genomics)
Source: BMC Genomics - April 22, 2024 Category: Genetics & Stem Cells Authors: Ruixiang Li, Fangyuan Shi, Lijuan Song and Zhenhua Yu Tags: Research Source Type: research
Multiple transcriptome analyses reveal mouse testis developmental dynamics
The testes are the organs of gamete production and testosterone synthesis. Up to date, no model system is available for mammalian testicular development, and only few studies have characterized the mouse testi... (Source: BMC Genomics)
Source: BMC Genomics - April 22, 2024 Category: Genetics & Stem Cells Authors: Anqi Chen, Chaoneng Ji, Chengtao Li, Beate Brand-Saberi and Suhua Zhang Tags: Research Source Type: research
Ki-67 is necessary during DNA replication for fork protection and genome stability
The proliferation antigen Ki-67 has been widely used in clinical settings for cancer staging for many years, but investigations on its biological functions have lagged. Recently, Ki-67 has been shown to regula... (Source: Genome Biology)
Source: Genome Biology - April 22, 2024 Category: Genetics & Stem Cells Authors: Konstantinos Stamatiou, Florentin Huguet, Lukas V. Serapinas, Christos Spanos, Juri Rappsilber and Paola Vagnarelli Tags: Research Source Type: research
Transcriptomic data reveals the dynamics of terpenoids biosynthetic pathway of fenugreek
Medicinal plants are rich sources for treating various diseases due their bioactive secondary metabolites. Fenugreek (Trigonella foenum-graecum) is one of the medicinal plants traditionally used in human nutritio... (Source: BMC Genomics)
Source: BMC Genomics - April 22, 2024 Category: Genetics & Stem Cells Authors: Sara Lamei Javan, Arman Beyraghdar Kashkooli, AbdolAli Shojaeiyan and Sina Majidian Tags: Research Source Type: research
Genetic and phenotypic analysis of 225 Chinese children with developmental delay and/or intellectual disability using whole-exome sequencing
Developmental delay (DD), or intellectual disability (ID) is a very large group of early onset disorders that affects 1 –2% of children worldwide, which have diverse genetic causes that should be identified. Ge... (Source: BMC Genomics)
Source: BMC Genomics - April 22, 2024 Category: Genetics & Stem Cells Authors: Heqian Ma, Lina Zhu, Xiao Yang, Meng Ao, Shunxiang Zhang, Meizhen Guo, Xuelin Dai, Xiuwei Ma and Xiaoying Zhang Tags: Research Source Type: research
Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review
The diagnosis of supernumerary X& Y chromosome variations has increased following the implementation of genetic testing in pediatric practice. Empirical evidence suggests that the delivery of the diagnosis ha... (Source: BMC Pediatrics)
Source: BMC Pediatrics - April 22, 2024 Category: Pediatrics Authors: Kirsten A. Riggan, Kelly E. Ormond, Megan A. Allyse and Sharron Close Tags: Research Source Type: research
Screening and surveillance recommendations for central nervous system hemangioblastomas in pediatric patients with Von Hippel-Lindau disease
ConclusionWe recommend starting MRI imaging at the age of 12 years with examination intervals every (1-) 2 years depending on CNS involvement. Special attention should be paid to patients with truncating variants. Affected families should be educated regularly on potential tumor-associated symptoms to enable timely MRI imaging and eventually intervention, as CNS hemangioblastoma may develop before screening begins.German clinical trials Register registration numberDRKS00029553, date of registration 08/16/2022, retrospectively registered. (Source: Journal of Neuro-Oncology)
Source: Journal of Neuro-Oncology - April 22, 2024 Category: Cancer & Oncology Source Type: research
Repeated dose toxicity studies of Trichostatin A in Swiss albino mice through oral and intravenous route of administration with special emphasis on genotoxicity
. (Source: Drug and Chemical Toxicology)
Source: Drug and Chemical Toxicology - April 22, 2024 Category: Toxicology Authors: Teena HaritwalAnu PrakashNeha SharmaNeetika JamnalManoj KumarPaban K. Agrawalaa Department of Radiation Genetics and Epigenetics, Institute of Nuclear Medicine and Allied Sciences, Delhi, Indiab Department of Biotechnology, Amity University, Noida, Indiac Source Type: research
Dietary n-3 alpha-linolenic and n-6 linoleic acids modestly lower serum lipoprotein(a) concentration but differentially influence other atherogenic lipoprotein traits: a randomized trial
Lipoprotein(a) [Lp(a)] is a causal, genetically determined cardiovascular risk factor. Limited evidence suggests that dietary unsaturated fat may increase serum Lp(a) concentration by 10 –15%. Linoleic acid may increase Lp(a) concentration through its endogenous conversion to arachidonic acid, a process regulated by the fatty acid desaturase (FADS) gene cluster. We aimed to compare the Lp(a) and other lipoprotein trait-modulating effects of dietary alpha-linolenic (ALA) and linole ic acids (LA). Additionally, we examined whether FADS1 rs174550 genotype modifies Lp(a) responses. (Source: Atherosclerosis)
Source: Atherosclerosis - April 22, 2024 Category: Cardiology Authors: Petrus Nuotio, Maria A. Lankinen, Topi Meuronen, Vanessa D. de Mello, Taisa Sallinen, Kirsi A. Virtanen, Jussi Pihlajam äki, Markku Laakso, Ursula Schwab Source Type: research
Maize Aspergillus section Flavi isolate diversity may be distinct from that of soil and subsequently the source of aflatoxin contamination
AbstractAspergillus sectionFlavi (Flavi) is a diverse group of fungal species whose common members includeA. flavus andA. parasiticus. These are well-known for the production of aflatoxin (AF) B and G and other toxic metabolites, like cyclopiazonic acid (CPA). They are saprophytic soil dwellers and also become crop opportunistic epiphytes. The consequence is contamination of the crop with mycotoxins, such as carcinogenic AF. We investigated theFlavi community structure of maize and that of their surrounding soil, including their mycotoxigenicity. Furthermore, we investigated the link of the maizeFlavi diversity with prehar...
Source: Mycotoxin Research - April 22, 2024 Category: Toxicology Source Type: research
Association of polymorphism in the promotor area of the caprine BMPR1B gene with litter size and body measurement traits in Damani goats
This study aimed to explore polymorphisms in the promoter region of the caprineBMPR1B (Bone morphogenetic protein receptor 1 beta) gene and its association with body measurement and litter size traits in Damani does. A total of 53 blood samples were collected to analyze the association between theBMPR1B gene polymorphism and 11 phenotypic traits in Damani female goats. The results revealed that three novel SNPs were identified in the promoter region of the caprineBMPR1B gene, including g.67 A  >  C (SNP1), g.170 G >  A(SNP2), and g.501A >  T (SNP3), among which the SNP1 and SNP2 were significantly (pâ€...
Source: Tropical Animal Health and Production - April 22, 2024 Category: Veterinary Research Source Type: research
Principal component analysis of phenotypic and breeding value data for semen traits in Egyptian buffalo bulls
This study was conducted to assess the relationship between the breeding values as well as the phenotypic values for semen traits (VOL, MM, LS, AS and CONC) of the Egyptian buffalo bulls. A total of 7761 normal semen ejaculates were collected and characterized at ILMTC laboratory from 26 bulls from 2009 to 2019. For VOL, MM, LS, AS, and CONC, the actual means were 3.89 mL, 62.37%, 60.64%, 3.94%, and 0.67  × 109 sperm/mL, respectively. The prediction of breeding values for semen traits was estimated using a Bayesian procedure. The estimated standardized EBVs and phenotypic values were used in the principal component an...
Source: Tropical Animal Health and Production - April 22, 2024 Category: Veterinary Research Source Type: research
Comparison of Three Viral Nucleic Acid Preamplification Pipelines for Sewage Viral Metagenomics
In this study, we investigated the performance of three different preamplification pipelines (specific to RNA viruses, DNA viruses or both) for viral genome sequencing using spiked-in Phosphate Buffered Saline and sewage samples containing known concentrations of viruses. We found that compared to the pipeline targeting all genome types, the RNA pipeline performed better in detecting RNA viruses in both spiked and unspiked sewage samples, allowing the detection of various mammalian viruses including members from theReoviridae,Picornaviridae,Astroviridae andCaliciviridae. However, the DNA-specific pipeline did not improve t...
Source: Food and Environmental Virology - April 22, 2024 Category: Virology Source Type: research
Unveilling genetic profiles and correlations of biofilm-associated genes, quorum sensing, and antibiotic resistance in Staphylococcus aureus isolated from a Malaysian Teaching Hospital
ConclusionsThe high prevalence of biofilm and slime production among MSSA and MRSA isolates correlates well with the detection of a high prevalence of biofilm-associated genes andagr quorum sensing system. A significant association ofagrI gene was found with cefoxitin, oxacillin, and fluoroquinolone resistance. A more focused approach targeting biofilm-associated and quorum sensing genes is important in developing new surveillance and treatment strategies againstS. aureus biofilm infection. (Source: European Journal of Medical Research)
Source: European Journal of Medical Research - April 22, 2024 Category: Research Source Type: research
Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children
ConclusionThis report indicates that biallelic variants inNUP93,NUP107 andNUP160 can cause severe early-onset SRNS, which rapidly progresses to ESKD. Moreover, these findings expand the spectrum of phenotypes and genotypes and highlight the importance of next-generation sequencing in elucidating the molecular basis of SRNS and allowing rational treatment for affected individuals. (Source: Italian Journal of Pediatrics)
Source: Italian Journal of Pediatrics - April 22, 2024 Category: Pediatrics Source Type: research
