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11601
Deficiency of FABP7 Triggers Premature Neural Differentiation in Idiopathic Normocephalic Autism Organoids
Published 2025-01-01“…Abstract Autism spectrum disorder (ASD), which is caused by heterogeneous genetic and environmental factors, is characterized by diverse clinical phenotypes linked to distinct pathological mechanisms. …”
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11602
The Intersection of Epigenetics and Senolytics in Mechanisms of Aging and Therapeutic Approaches
Published 2024-12-01“…The biological process of aging is influenced by a complex interplay of genetic, environmental, and epigenetic factors. Recent advancements in the fields of epigenetics and senolytics offer promising avenues for understanding and addressing age-related diseases. …”
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11603
An HLA-Transgenic Mouse Model of Type 1 Diabetes That Incorporates the Reduced but Not Abolished Thymic Insulin Expression Seen in Patients
Published 2016-01-01“…Type 1 diabetes (T1D) is an autoimmune disease characterized by T cell-mediated destruction of the pancreatic islet beta cells. Multiple genetic loci contribute to disease susceptibility in humans, with the most responsible locus being the major histocompatibility complex (MHC). …”
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11604
Analysis of Polygala tenuifolia Transcriptome and Description of Secondary Metabolite Biosynthetic Pathways by Illumina Sequencing
Published 2015-01-01“…With this transcriptome sequencing, future genetic and genomics studies related to the molecular mechanisms associated with the chemical composition of P. tenuifolia may be improved. …”
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11605
Very Elevated IgE, Atopy, and Severe Infection: A Genomics-Based Diagnostic Approach to a Spectrum of Diseases
Published 2021-01-01“…We present a 6-year-old male patient with markedly elevated IgE and severe atopic dermatitis presenting with staphylococcal bacteremia found to have a heterozygous variant in FLG (p.S3247X) and multiple variants of unknown significance in BCL11B, ZAP70, LYST, and PTPRC. We review the genetic defects underpinning elevated IgE and highlight the spectrum of atopy and immunodeficiency seen in patients with underlying mutations. …”
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11606
Microbial Biofortification of Grain Crops: Current State and Prospects
Published 2024-07-01“…Biofortification offers a sustainable solution as it combines methods of cross-breeding, genetic engineering, agriculture, and microbiology. …”
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11607
Plastid-localized ZmENR1/ZmHAD1 complex ensures maize pollen and anther development through regulating lipid and ROS metabolism
Published 2024-12-01“…In this study, we identify a maize male-sterile mutant, enr1, with early tapetal degradation, defective anther cuticle, and pollen exine. Using genetic mapping, we clone a key GMS gene, ZmENR1, which encodes a plastid-localized enoyl-acyl carrier protein (ACP) reductase. …”
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11608
Hepatitis E virus infection among blood donors in Zhengzhou
Published 2025-01-01“…[Results] Among 21 311 samples, 3(0.14‰) were reactive for HEV RNA, all of whom were male. Genetic sequencing results revealed that one strong positive sample was genotype 4, while sequencing failed for the other two due to low viral load. …”
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11609
Inhibition of Kv1.3 channel restrains macrophage M2 polarization and ameliorates renal fibrosis via regulating STAT6 phosphorylation
Published 2025-03-01“…Our findings demonstrated that genetic or pharmacological inhibition of Kv1.3 significantly suppressed the expression of M2 markers and STAT6 phosphorylation. …”
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11610
Polymorphism of MTHFR C677T Gene and the Associations with the Severity of Essential Hypertension in Northern Chinese Population
Published 2020-01-01“…MTHFR gene, smoking, family history of hypertension, Hcy, and triglycerides could be important genetic and high-risk factors of the development of severe hypertension in northern Chinese. …”
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11611
Biotechnology breakthroughs: Revolutionizing oral cancer treatment
Published 2024-06-01“…Gene therapy holds promise in correcting genetic abnormalities that contribute to tumor growth or enhancing the immune system's ability to eradicate cancer cells. …”
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11612
Unveiling the Mechanism of Deprotonation and Proton Transfer of DNA Polymerase Catalysis via Single‐Molecule Conductance
Published 2025-01-01“…Abstract DNA polymerases (Pols) play important roles in the transmission of genetic information. Although the function and (de)regulation of Pols are linked to many human diseases, the key mechanism of 3′‐OH deprotonation and the PPi formation are not totally clear. …”
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11613
Proximate Composition, Amino Acid Profile, and Mineral Content of Four Sheep Meats Reared Extensively in Morocco: A Comparative Study
Published 2021-01-01“…The majority of the evaluated parameters were influenced by genetic and geographical factors (p<0.05). The longissimus lumborum muscle had higher a∗ value in Timahdite and Ouled-Djellal breeds. …”
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11614
Robust H-Infinity Filter and PSO-SVM Based Monitoring of Power Quality Disturbances System
Published 2024-01-01“…The validity of the classification analysis is reinforced by the inclusion of experimental data gathered from a prototype wind energy system and photovoltaic (PV) system setup. Again, Genetic algorithm (GA) is used for extracting optimal features and Particle swarm optimization (PSO) is applied for optimising the heuristic parameters of the SVM in order to improvise the classification accuracy under normal, noisy as well as increased penetration of wind and photovoltaic (PV) systems.…”
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11615
QSAR STUDY OF 2-SUBSTITUTED PHENYL-2-OXO-, 2-HYDROXYL- AND 2-ACYLLOXYETHYLSULFONAMIDES AS FUNGICIDES
Published 2019-06-01“…The model was developed using Genetic Function Algorithm (GFA). Out of the four models developed, model 1 was selected as the optimum model with good statistical parameters; R2 = 0.954, R2adj =0.941, cross validation R2/ Q2cv = 0.888 and R2pred = 0.839. …”
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11616
Electroencephalographic and Epilepsy Findings in ZNF711 Variants: A Case Series of Two Siblings
Published 2025-01-01“…Both children underwent various genetic testing and counselling, including an extended next-generation sequencing (NGS) panel, revealing a hemizygous c.657C > G pathogenic variant in the ZNF711 gene from maternal inheritance. …”
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11617
Human Genomic Loci Important in Common Infectious Diseases: Role of High-Throughput Sequencing and Genome-Wide Association Studies
Published 2018-01-01“…We further highlight potential opportunities for these genetic markers.…”
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11618
Genome-Wide Association Study of Medication Adherence in Chronic Diseases in the Korean Population
Published 2014-09-01“…This study was conducted a genome-wide association study to identify the genetic basis of medication adherence. A total of 235 medication non-adherents and 1,067 medication adherents with hypertension or diabetes were used from the Korean Association Resource project data according to the self-reported treatment status of each chronic disease, respectively. …”
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11619
Mechanisms of Rhodopsin-Related Inherited Retinal Degeneration and Pharmacological Treatment Strategies
Published 2025-01-01“…Advancing our understanding of the interactions between photoreceptor cell death mechanisms and the specific genetic mutations driving RP is critical to accelerate the discovery and development of therapeutic strategies for this currently incurable disease.…”
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11620
Calcitonin and Bone Physiology: In Vitro, In Vivo, and Clinical Investigations
Published 2020-01-01“…The recent research studies carried out on genetically modified mice showed the inhibition of osteoclast activity by amylin, while astonishingly calcitonin plays its role by suppressing osteoblast and bone turnover. …”
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