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Topic Review
Dihydropyrimidinase Deficiency
Dihydropyrimidinase deficiency is a disorder that can cause neurological and gastrointestinal problems in some affected individuals. Other people with dihydropyrimidinase deficiency have no signs or symptoms related to the disorder, and in these individuals the condition can be diagnosed only by laboratory testing.
  • 952
  • 24 Dec 2020
Topic Review
Factors to Improve Healthy Reproduction
Humans’ health is the result of a complex and balanced interplay between genetic factors, environmental stimuli, lifestyle habits, and the microbiota composition. The knowledge about their single contributions, as well as the complex network linking each to the others, is pivotal to understand the mechanisms underlying the onset of many diseases and can provide key information for their prevention, diagnosis and therapy. This applies also to reproduction. Reproduction, involving almost 10% of our genetic code, is one of the most critical human’s functions and is a key element to assess the well-being of a population. The last decades revealed a progressive decline of reproductive outcomes worldwide. As a consequence, there is a growing interest in unveiling the role of the different factors involved in human reproduction and great efforts have been carried out to improve its outcomes. As for many other diseases, it is now clear that the interplay between the underlying genetics, our commensal microbiome, the lifestyle habits and the environment we live in can either exacerbate the outcome or mitigate the adverse effects.
  • 952
  • 28 Apr 2021
Topic Review
TSEN2 Gene
tRNA splicing endonuclease subunit 2
  • 951
  • 22 Dec 2020
Topic Review
Subcortical Band Heterotopia
Subcortical band heterotopia is a condition in which nerve cells (neurons) do not move (migrate) to their proper locations in the fetal brain during early development.
  • 951
  • 23 Dec 2020
Topic Review
Cowden Syndrome
Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.
  • 951
  • 24 Dec 2020
Topic Review
Genetic Testing for Antipsychotic Pharmacotherapy
Genetic testing is increasingly utilized to identify genetic biomarkers for optimizing the efficacy and tolerability of psychotropic drugs, especially antidepressants. However, genetic testing is also being requested to enhance the effectiveness of antipsychotic drugs, which is especially true for the treatment-refractory schizophrenia population, who frequently experience irrational polypharmacy at high dosages with significant adverse effects, generally without much therapeutic benefit.
  • 951
  • 27 Jul 2021
Topic Review
MicroRNAs-Based Therapeutic Strategies in TNBC
Triple Negative breast cancer is unresponsive to endocrine therapy, i.e., tamoxifen, aromatase inhibitors, and/or anti-HER2-targeted therapies. As there are currently no other therapeutic options to treat TNBC apart from chemotherapy, various studies were reviewed to draw the conclusion that ncRNAs might be candidates for drug development and drug resistance. Targeted approaches to epigenetic mechanisms and clarification of the molecular mechanisms of specific miRNAs in TNBC subtypes are fully justified. Currently, TNBC with BLP is the only subtype for which we might suggest some therapeutic hypotheses based on miRNA/mRNA integration. This review might provide a collection of biomarkers potentially useful in clinical settings and shows that the combination of miRNA-based therapeutic strategies with conventional therapies might synergize anticancer effects improving patient outcome. 
  • 950
  • 16 Nov 2020
Topic Review
Intranuclear Rod Myopathy
Intranuclear rod myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement.
  • 950
  • 23 Dec 2020
Topic Review
Norrie Disease
Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth.
  • 950
  • 24 Dec 2020
Topic Review
Wolfram Syndrome
Wolfram syndrome is a condition that affects many of the body's systems.
  • 950
  • 24 Dec 2020
Topic Review
TNFRSF1A Gene
TNF receptor superfamily member 1A: The TNFRSF1A gene provides instructions for making a protein called tumor necrosis factor receptor 1 (TNFR1).
  • 950
  • 25 Dec 2020
Topic Review
Potential Biomarkers of Metastasizing Paragangliomas and Pheochromocytomas
Paragangliomas and pheochromocytomas (PPGLs) are rare neuroendocrine tumors formed from paraganglionic tissue. Since 2017, PPGLs have been classified as tumors with variable potential to metastasize. Metastasizing PPGLs are usually difficult to diagnose and require evidence of regional or distant metastasis. Data on diagnostic and prognostic molecular markers for PPGL malignancy are limited, and many of the proposed factors remain controversial. There is a significant gap in the understanding of tumor pathogenesis, as well as the treatment and management of patients with PPGLs. This entry summarized the current findings on the potential markers for distinguishing between metastasizing and benign tumors, as well as on the prediction of aggressive behavior of PPGLs, especially of those localized in the head and neck region.
  • 950
  • 11 Nov 2021
Topic Review
CYP17A1 Gene
Cytochrome P450 Family 17 Subfamily A Member 1
  • 949
  • 23 Dec 2020
Topic Review
Oculofaciocardiodental Syndrome
Oculofaciocardiodental (OFCD) syndrome is a condition that affects the development of the eyes (oculo-), facial features (facio-), heart (cardio-) and teeth (dental). This condition occurs only in females.
  • 949
  • 24 Dec 2020
Topic Review
Roberts Syndrome
Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities.
  • 949
  • 24 Dec 2020
Topic Review
CyberGenomics
Cybersecurity (CS) field is a complex discipline with multiple layers. We deconstruct the CS specialist as a material (naturally/ genetically determined) and non-material (psychologically determined) entity. This entity is mapped to CS competences required to conduct everyday tasks where psychological factors are also present (e.g. stress). All the structural prerequisites for the development and functioning of the psyche are genetically coded and controlled. Behavior genetics addresses the interdisciplinary effort to establish causal links between genomic loci and human behavioral traits and neural mechanisms. Almost every human behavioral trait is a result of many genome variants in action altogether with environmental factors. Cybergenomics focuses on contextualizing the behavior genetics aspects in the application of cybersecurity.
  • 949
  • 30 Nov 2021
Topic Review
Hartnup Disease
Hartnup disease is a condition caused by the body's inability to absorb certain protein building blocks (amino acids) from the diet.
  • 948
  • 23 Dec 2020
Topic Review
SMC3 Gene
structural maintenance of chromosomes 3
  • 948
  • 24 Dec 2020
Topic Review
Mycobacterium tuberculosis and HIV-1: Evolution
This entry reviews the genetic evolution and adaptation to the host environment of M. tuberculosis and HIV-1. It provides an overview of the latest developments in the knowledge about the genetic diversity of these devastating intracellular human pathogens and its impact on the host immune system, virulence, drug resistance propensity and other relevant aspects. We also proposed a novel topic in the literature regarding the use of single cell "omics" to study the interacting evolutionary dynamics of M. tuberculosis and HIV-1 in co-infection, at the cellular niche of monocytes/macrophages.
  • 948
  • 20 Jan 2021
Topic Review
LIPH Gene
Lipase H
  • 947
  • 23 Dec 2020
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