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result(s) for
"genetic makeup"
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Early-Onset Colorectal Cancer: Current Insights
2023
Over the past decade, the incidence of colorectal cancer has increased in individuals under the age of 50 years. Meanwhile, the incidence has gradually decreased in the older population. As described herein, we reviewed the available literature to summarize the current landscape of early-onset colorectal cancer, including risk factors, clinicopathological presentation, genetic makeup of patients, and management. Currently, early-onset colorectal cancer is treated similarly as late-onset colorectal cancer, yet the available literature shows that early-onset colorectal cancer is more aggressive and different, and this remains a significant unmet need. A detailed understanding of early-onset colorectal cancer is needed to identify risk factors for the increased incidence and tailor treatments accordingly.
Journal Article
Unraveling the paternal genetic structure and forensic traits of the Hui population in Liaoning Province, China using Y-chromosome analysis
by
Hongyi, Cao
,
Wang, Chuan-Chao
,
Fu, Dazhi
in
Analysis
,
Animal Genetics and Genomics
,
Aquatic birds
2023
The Hui people are the second-largest ethnic minority in China, and they are distributed throughout the country. A previous study explored the paternal genetic structure of the Hui population in nine different regions of China, but it overlooked the Liaoning province. In this study, we examined the paternal genetic makeup and forensic traits of the Hui population in Liaoning province by analyzing 157 Y-chromosome single nucleotide polymorphisms (Y-SNPs) and 26 short tandem repeats (Y-STRs). We successfully genotyped 282 unrelated male individuals from the Hui population of Liaoning province using the SNaPshot® single base extension assay and Goldeneye™ Y26 system kit (PEOPLESPOT R&D, Beijing, China). The results revealed high haplotypic diversity (0.9998) and identified 46 terminal haplogroups for the Hui population. Additional analyses, such as heat maps, principal component analysis (PCA), genetic distance (FST), Multidimensional scaling (MDS) analysis, and median-joining network (MJ) analysis, showed that the Hui population could be classified into three groups: Northwest Hui populations (NWH), including Liaoning, Xinjiang, Qinghai, Gansu, Ningxia, Shaanxi, and Henan; Hui populations from Sichuan and Shandong (SSH); and Yunnan Hui populations (YNH). Pairwise genetic distance (Rst) comparisons with other Chinese populations revealed that the Hui population displayed genetic affinity with the Han population. The comprehensive understanding of the Hui population in Liaoning province, explored by Y-SNPs and Y-STRs, can be utilized to interpret their genetic structure and enhance the accuracy of forensic databases.
Journal Article
Zinc biofortification of cereals—role of phosphorus and other impediments in alkaline calcareous soils
2019
Alkaline calcareous soils are deficient in plant nutrients; in particular, phosphorus (P) and zinc (Zn) are least available; their inorganic fertilizers are generally applied to meet the demand of crops. The applied nutrients react with soil constituents as well as with each other, resulting in lower plant uptake. Phosphorus availability is usually deterred due to lime content, while Zn availability is largely linked with alkalinity of the soil. The present manuscript critically discusses the factors associated with physicochemical properties of soil and other interactions in soil–plant system which contribute to the nutrients supply from soil, and affect productivity and quality attributes of cereals. Appropriate measures may possibly lessen the severity of nutritional disorder in cereal and optimize P and Zn concentrations in grain. Foliar Zn spray is found to escape most of the soil reactions; thus, Zn bioavailability is higher either through increase in grain Zn or through decrease in phytate content. The reactivity of nutrients prior to its uptake is deemed as major impediments in Zn biofortification of cereals. The article addresses physiological limitation of plants to accumulate grain Zn and the ways to achieve biofortification in cereals, while molecular mechanism explains how it affects nutritional quality of cereals. Moreover, it highlights the desirable measures for enhancing Zn bioavailability, e.g., manipulation of genetic makeup for efficient nutrient uptake/translocation, and also elucidates agronomic measures that help facilitate Zn supply in soil for plant accumulation.
Journal Article
Zn Foliar Spray as a Management Strategy Boosts Oil Qualitative and Quantitative Traits of Spring Rapeseed Genotypes at Winter Sowing Dates
by
Eyni-Nargeseh, Hamed
,
Ganj-Abadi, Farnaz
,
Jalili, Ehsan Ollah
in
Acids
,
Agricultural ecosystems
,
Agricultural production
2021
To determine the suitable sowing date in each region, it is important to note that environmental conditions should be optimal during the crop growing season. Plant nutrition using macro-elements and micro-elements improves crop growth and quantitative and qualitative yields under environmental stresses. A 2-year experiment (2015–2016 and 2016–2017) was conducted to investigate the effect of zinc (Zn) foliar spray on quantitative and qualitative yields of spring rapeseed genotypes at winter sowing dates. The factorial split-plot arrangement of treatments was set up in a randomized complete block design with three replications. Main plots included three winter sowing dates of 9, 19, and 29 February and Zn foliar spray at two levels of non-Zn foliar spray (control) and Zn foliar spray (5 g l
−1
at the stem elongation stage). Sub-plots contained four genotypes of Sarigol, Dalgan, Salsa, and Solar. While silique number per plant, seed number per silique, 1000-seed weight, seed yield, oil yield and content, and oleic, linoleic, and palmitic acids of the study genotypes were lessened at late sowing dates, contents of linolenic, stearic, and erucic acids and glucosinolate were significantly increased in such condition. Zn foliar spray improved seed yield and yield components, oil yield and content, and linoleic acid content, while contents of linolenic, stearic, and erucic acids and glucosinolate were dropped. Overall, the current study suggests that to produce the optimal quantitative and qualitative yields in rapeseed agro-ecosystems, genotypes should be cultivated on an optimum winter sowing date (February 9) and treated with Zn.
Journal Article
Multiple Genetic Rare Variants in Autism Spectrum Disorders: A Single-Center Targeted NGS Study
by
Riva, Daria
,
Pantaleoni, Chiara
,
D’Arrigo, Stefano
in
Autism
,
autism spectrum disorder
,
Chromatography
2021
Many studies based on chromosomal microarray and next-generation sequencing (NGS) have identified hundreds of genes associated with autism spectrum disorder (ASD) risk, demonstrating that there are several complex genetic factors that contribute to ASD risk. We performed targeted NGS gene panels for 120 selected genes, in a clinical population of 40 children with well-characterized ASD. The variants identified were annotated and filtered, focusing on rare variants with a minimum allele frequency <1% in GnomAD. We found 147 variants in 39 of the 40 patients. It was possible to perform family segregation analysis in 28 of the 40 patients. We found 4 de novo and 101 inherited variants. For the inherited variants, we observed that all the variants identified in the patients came equally from the paternal and maternal genetic makeup. We identified 9 genes that are more frequently mutated than the others, and upon comparing the mutational frequency of these 9 genes in our cohort and the mutational frequency in the GnomAD population, we found significantly increased frequencies of rare variants in our study population. This study supports the hypothesis that ASD is the result of a combination of rare deleterious variants (low contribution) and many low-risk alleles (genetic background), highlighting the importance of MET and SLIT3 and the potentially stronger involvement of FAT1 and VPS13B in ASD. Taken together, our findings reinforce the importance of using gene panels to understand the contribution of the different genes already associated with ASD in the pathogenesis of the disease.
Journal Article
Sex-dependent genetic markers of CYP3A4 expression and activity in human liver microsomes
2007
To find genetic markers of the individual cytochrome P450 (CYP)3A expression.
A large collection of liver samples phenotyped for CYP3A expression and activity was genotyped for
variants. Data were analyzed for associations between CYP3A phenotypes and genotypes, and for evidence of recent selection.
We report associations between the hepatic CYP3A4 protein expression level, as well as its enzymatic activity, measured as verapamil
-dealkylation, and genetic polymorphisms from two regions within the
gene cluster. One region is defined by several variants, mostly located within
, the other by a single nucleotide polymorphism in intron 7 of
. The effects of these single nucleotide polymorphisms are sex-dependent. For example, female carriers of T alleles of the single nucleotide polymorphism rs4646437C>T in
intron 7 have, respectively, 5.1-fold and 2.7-fold higher expression and activity compared with male T-carriers, but only 2.2-fold and 1.4-fold higher expression and activity compared with males of genotype CC. A regression analysis indicates that the impact of these single nucleotide polymorphisms in men goes beyond the previously reported sex effect. The rs4646437C undergoes positive selection in Caucasians, as evidenced by its relative extended haplotype homozygosity value located within the uppermost percentile of a genome-wide test set of haplotypes in the same 5% frequency bin.
Our findings reconcile the apparent contradiction between the evidence for the influence of the individual genetic makeup on CYP3A4 expression and activity suggested by clinical studies, and the failure to identify the responsible gene variants.
Journal Article
Genetic processes in arbuscular mycorrhizal fungi
by
Pawlowska, Teresa E.
in
Agricultural practices
,
Arbuscular mycorrhizal fungi
,
Arbuscular mycorrhizas
2005
Arbuscular mycorrhizal (AM) fungi (Glomeromycota) colonize roots of the majority of land plants and facilitate their mineral nutrient uptake. Consequently, AM fungi play an important role in terrestrial ecosystems and are becoming a component of sustainable land management practices. The absence of sexual reproductive structures in modern Glomeromycota combined with their long evolutionary history suggest that these fungi may represent an ancient asexual lineage of great potential interest to evolutionary biology. However, many aspects of basic AM fungal biology, including genome structure, within-individual genetic variation, and reproductive mode are poorly understood. These knowledge gaps hinder research on the mechanisms of AM fungal interactions with individual plants and plant communities, and utilization of AM fungi in agricultural practices. I present here the current state of research on the reproduction in AM fungi and indicate what new findings can be expected in the future.
Journal Article
Pain: A Bio‐Psycho‐Social Phenomenon
by
Twycross, Alison
in
biological factors ‐ child's age, gender and genetic makeup
,
child's level of cognitive development and their perception of pain
,
culture impact on children's pain experiences
2009
This chapter contains sections titled:
Introduction
Biological Factors
Psychological Factors
Social Factors
Summary
References
Book Chapter
Propagated Immortality
2008
The biology of the honeybee is constructed around using energy and material from the environment, and organizing these to ensure the propagation of daughter colonies of the highest quality. This insight is the key to understanding the amazing achievement and performance of honeybees.
Reproduction and sex are two different and essentially independent processes. Reproduction can occur without sex, and sex without reproduction. Reproduction is duplication. The simplest way to achieve duplication is through cell division. Sexual procedures, on the other hand, are based on the fusion of germ cells from two differently sexed individuals and lead, through these combinations, to an increase in diversity in a population. This diversity is important, because it offers the process of selection a broad palette of possibilities from which to choose and maintain an evolutionary progression. Mutations in the genome have the same effect, but these cannot be induced, and they occur and are allocated randomly. Sexuality is not dependent on such chance, and results with certainty in new types with every fertilization.
Book Chapter
Bioactivity and application of anthocyanins in skin protection and cosmetics: an extension as a functional pigment
2023
The skin undertakes a safeguard against external dangers, sensations, and symbols of beauty and health, and different cosmetics provide targeted solutions to various skin problems. However, synthetic pigment and chemical components in cosmetics can harm sensitive skin, resulting in further damage to the skin. Anthocyanins are natural pigments that possess vivid colors, excellent bioactivity, and the absence of toxicity. Therefore, anthocyanins have garnered considerable interest owing to their potential applications in cosmetics for dermatological conditions and aesthetic purposes. This review aims to comprehensively summarize studies and advancements in the use of anthocyanins in cosmetics and their potential future directions. These findings confirmed the bioactivity of anthocyanins against photodamage and melanogenesis and revealed the underlying mechanism. Additionally, anthocyanins were found to have great potential as one colorant, but their use is limited by their low lipophilicity and susceptibility to high temperature and variations in pH. Future research should prioritize anthocyanin stabilization, pyranoanthocyanin use, and investigation of the effects of anthocyanins on the gut-skin axis. This review advances our understanding of the application of anthocyanins as functional pigments in cosmetics and provides a scientific basis for the potential use of anthocyanins to improve skin function.
Journal Article