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Topic Review
NLRP12 Gene
NLR family pyrin domain containing 12
  • 550
  • 23 Dec 2020
Topic Review
Genetic Diversity of Hydro Priming
Seed priming refers to seed enhancement methods that stimulate seed metabolism. This study evaluated the genetic diversity of hydro priming efficacy in 27 different genotypes of rice under dry to wet soil moisture conditions. The genotypes included 21 genotypes of Oryza sativa, five genotypes of Oryza glaberrima, and one genotype of NERICA (New Rice for Africa). The treated rice seeds were sown in plastic boxes under four soil moisture conditions (5%, 10%, 15%, and 20% (w/w)). The genotypes were categorized into six groups based on growth parameters using hierarchical cluster analysis. Furthermore, emergence properties were investigated by using principal component analysis based on the mean emergence time of control and primed seeds. Seed priming enhanced growth performance under the moderate dry conditions of 10% and 15% soil moisture. Meanwhile, priming efficacy was low in water stress conditions of 5% and 20% soil moisture. There were wide-ranging genotypic differences of priming efficacy under 20% soil moisture condition. Our findings indicate that the anaerobic-tolerant genotypes tend to exhibit priming efficacy under high soil moisture conditions. Furthermore, one group included all upland genotypes of O. sativa. This group originally adapted to 10% and 15% of dry conditions, and seed priming improved their features greatly.
  • 547
  • 15 Mar 2021
Topic Review
Genetic Code Symmetries Support Wobbling in Proteinogenesis
Genetic code symmetries in form of the Supersymmetry Genetic Code (SSYGC) table support the wobble hypothesis with non-Watson–Crick pairing interactions between the translation process from mRNA to tRNA. Namely, in 1966 F.H.C. Crick proposed the wobble hypothesis to explain this partial degeneracy. Without symmetries of genetic code wobbling interaction can have misreading error in proteinogenesis.
  • 547
  • 06 Feb 2025
Topic Review
Developmental Impacts of Epigenetics and Metabolism in COVID-19
Developmental biology is intricately regulated by epigenetics and metabolism but the mechanisms are not completely understood. The situation becomes even more complicated during diseases where all three phenomena are dysregulated. A salient example is COVID-19, where the death toll exceeded 6.96 million in 4 years, while the virus continues to mutate into different variants and infect people. Early evidence during the pandemic showed that the host’s immune and inflammatory responses to COVID-19 (like the cytokine storm) impacted the host’s metabolism, causing damage to the host’s organs and overall physiology. The involvement of angiotensin-converting enzyme 2 (ACE2), the pivotal host receptor for the SARS-CoV-2 virus, was identified and linked to epigenetic abnormalities along with other contributing factors.
  • 545
  • 01 Mar 2024
Topic Review
HNRNPK Gene
Heterogeneous nuclear ribonucleoprotein K
  • 543
  • 23 Dec 2020
Topic Review
HPS1 Gene
HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
  • 543
  • 23 Dec 2020
Topic Review
KRT17 Gene
Keratin 17
  • 540
  • 23 Dec 2020
Topic Review
Laryngo-Onycho-Cutaneous Syndrome
Laryngo-onycho-cutaneous (LOC) syndrome is a disorder that leads to abnormalities of the voicebox (laryngo-), finger- and toenails (onycho-), and skin (cutaneous).
  • 539
  • 23 Dec 2020
Topic Review Peer Reviewed
Gene Editing: The Regulatory Perspective
Gene or genome editing, often known as GE, is a technique utilized to modify, eliminate, or substitute a mutated gene at the DNA level. It serves as a valuable tool in the field of genetic manipulation. Gene therapy (GT) is a therapeutic approach that aims to correct mutations by delivering a functional gene copy into the body. In contrast, the mutated gene remains in the genome. It is considered a form of medical intervention. No approval has been granted for any product manufactured by GE, in contrast to the approval of 22 medications produced by GT. These GT products are priced at millions of US dollars each dose. The Food and Drug Administration (FDA) has recently implemented a guideline about gene editing, which aims to facilitate the expedited creation of genetically engineered (GE) goods. However, the FDA must provide further elucidation and necessary revisions to enhance the rationality of this guideline.
  • 539
  • 27 Oct 2023
Topic Review
Holocarboxylase Synthetase Deficiency
Holocarboxylase synthetase deficiency is an inherited disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, which is a group of disorders characterized by impaired activity of certain enzymes that depend on biotin.
  • 538
  • 23 Dec 2020
Topic Review
Germline POT1 Variants
Protection of Telomere 1 (POT1) was deemed as a novel high-penetrance susceptibility gene to cutaneous melanoma nearly 10 years ago. Thereafter, various cancers have been proposed as associated with germline POT1 variants in the context of the so-called POT1 Predisposition Tumor Syndrome (POT1–TPD). While the key role, and related risks, of the alterations in POT1 in melanoma are established, the correlation between germline POT1 variants and the susceptibility to other cancers partially lacks evidence, due also to the rarity of POT1–TPD. 
  • 535
  • 01 Mar 2024
Topic Review
Liquid Biopsies for Non-Small CellLung Cancer Management
Liquid biopsies allow easy repeated sampling of blood, reflect the tumor scenario, and make personalized therapy real for the patient. Liquid biopsies isolate and utilize different substrates present in patients’ body fluids such as circulating tumor cells, circulating tumor DNA, tumor extracellular vesicles, etc. One of the most-used solid cancers in the development of the non-invasive liquid biopsy approach that has benefited from scientific advances is non-small cell lung cancer (NSCLC). Using liquid biopsy, it is possible to have more details on NSCLC staging, progression, heterogeneity, gene mutations and clonal evolution, etc., basing the treatment on precision medicine as well as on the screening of markers for therapeutic resistance. 
  • 527
  • 17 Feb 2023
Topic Review
Long Non-Coding RNAs in IBD and Johne’s Disease
Non-coding RNAs (ncRNA) have paved the way to new perspectives on the regulation of gene expression, not only in biology and medicine, but also in associated fields and technologies, ensuring advances in diagnostic means and therapeutic modalities. Critical in this multistep approach are the associations of long non-coding RNA (lncRNA) with diseases and their causal genes in their networks of interactions, gene enrichment and expression analysis, associated pathways, the monitoring of the involved genes and their functional roles during disease progression from one stage to another. Studies have shown that Johne’s Disease (JD), caused by Mycobacterium avium subspecies partuberculosis (MAP), shares common lncRNAs, clinical findings, and other molecular entities with Crohn’s Disease (CD). This has been a subject of vigorous investigation owing to the zoonotic nature of this condition, although results are still inconclusive.
  • 520
  • 11 Sep 2023
Topic Review
KCNK9 Gene
Potassium two pore domain channel subfamily K member 9
  • 509
  • 23 Dec 2020
Topic Review
Carcinomas on Autosomal Trait Screening
In DNA typing or genetic fingerprinting, variable elements are isolated and identified within the base pair sequences that form the DNA. The person’s probable identity can be determined by analysing nucleotide sequences in particular regions of DNA unique to everyone.
  • 492
  • 14 Sep 2023
Topic Review
Copy Number Variations in Neuropsychiatric Disorders
Neuropsychiatric disorders are complex conditions that represent a significant global health burden with complex and multifactorial etiologies. Technological advances have improved understanding of the genetic architecture of the major neuropsychiatric disorders and the genetic loci involved. Previous studies mainly investigated genome-wide significant single nucleotide polymorphisms (SNPs) to elucidate the cross-disorder and disorder-specific genetic basis of neuropsychiatric disorders. Although copy number variations represent a major source of genetic variations, they are known risk factors in developing a variety of human disorders, including certain neuropsychiatric diseases.
  • 492
  • 27 Sep 2023
Topic Review
Genetics of Posttraumatic Stress Disorder
The potential Genetic influences of post-traumatic stress disorder are ill understood due to the limitations of any genetic study of mental illness; in that it cannot be ethically induced in selected groups. So all studies must use naturally occurring groups with genetic similarities and difference, thus the amount of data is limited. However, Genetics play some role in the development of PTSD. Approximately 30% of the variance in PTSD is caused from genetics alone. For twin pairs exposed to combat in Vietnam, having a monozygotic (identical) twin with PTSD was associated with an increased risk of the co-twin's having PTSD compared to twins that were dizygotic (non-identical twins).
  • 486
  • 14 Oct 2022
Topic Review
PGT-M for Premature Ovarian Failure
Primary ovarian failure (POF) is caused by follicle exhaustion and is associated with menstrual irregularities and elevated gonadotropin levels, which lead to infertility before the age of 40 years. The etiology of POI is mostly unknown, but a heterogeneous genetic and familial background can be identified in a subset of cases. Abnormalities in the fragile X mental retardation 1 gene (FMR1) are among the most prevalent monogenic causes of POI. These abnormalities are caused by the expansion of an unstable CGG repeat in the 5′ untranslated region of FMR1. Expansions over 200 repeats cause fragile X syndrome (FXS), whereas expansions between 55 and 200 CGG repeats, which are defined as a fragile X premutation, have been associated with premature ovarian failure type 1 (POF1) in heterozygous females. Preimplantation genetic testing for monogenic diseases (PGT-M) can be proposed when the female carries a premutation or a full mutation. 
  • 483
  • 19 Jan 2024
Topic Review
Genetic Marker Exploration for Livestock Vertebral Traits
In livestock breeding, the number of vertebrae has gained significant attention due to its impact on carcass quality and quantity. Variations in vertebral traits have been observed across different animal species and breeds, with a strong correlation to growth and meat production. Furthermore, vertebral traits are classified as quantitative characteristics. Molecular marker techniques, such as marker-assisted selection (MAS), have emerged as efficient tools to identify genetic markers associated with vertebral traits.
  • 474
  • 19 Feb 2024
Topic Review
The Role of Genetic Polymorphisms in Diabetic Retinopathy
Diabetic retinopathy (DR) is renowned as a leading cause of visual loss in working-age populations with its etiopathology influenced by the disturbance of biochemical metabolic pathways and genetic factors, including gene polymorphism. Metabolic pathways considered to have an impact on the development of the disease, as well as genes and polymorphisms that can affect the gene expression, modify the quantity and quality of the encoded product (protein), and significantly alter the metabolic pathway and its control, and thus cause changes in the functioning of metabolic pathways.
  • 467
  • 08 Nov 2023
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