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Topic Review
TRNT1 Deficiency
TRNT1 deficiency is a condition that affects many body systems. Its signs and symptoms can involve blood cells, the immune system, the eyes, and the nervous system. The severity of the signs and symptoms vary widely.  
  • 1.4K
  • 23 Dec 2020
Topic Review
Schizophrenia
Schizophrenia is a brain disorder classified as a psychosis, which means that it affects a person's thinking, sense of self, and perceptions. The disorder typically becomes evident during late adolescence or early adulthood.
  • 1.4K
  • 04 Jan 2021
Topic Review
Methyltransferase SETDB1
SET domain bifurcated 1 (SETDB1) is a histone H3 lysine 9 (H3K9) methyltransferase that exerts important effects on epigenetic gene regulation. SETDB1 complexes (SETDB1-KRAB-KAP1, SETDB1-DNMT3A, SETDB1-PML, SETDB1-ATF7IP-MBD1) play crucial roles in the processes of histone methylation, transcriptional suppression and chromatin remodelling.
  • 1.4K
  • 02 Aug 2021
Topic Review
Cryptogenic Cirrhosis
Cryptogenic cirrhosis is a condition that impairs liver function. People with this condition develop irreversible liver disease caused by scarring of the liver (cirrhosis), typically in mid- to late adulthood.
  • 1.4K
  • 24 Dec 2020
Topic Review
HBSL
Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) is a condition that affects the brain and spinal cord (central nervous system). In particular, the condition affects nerves in specific regions (called tracts) within the spinal cord and the brainstem, which is the part of the brain that connects to the spinal cord. HBSL is a form of leukodystrophy, which is a group of conditions that involve abnormalities of the nervous system's white matter. The white matter consists of nerve fibers covered by a fatty substance, called myelin, that insulates the fibers and promotes the rapid transmission of nerve impulses. In HBSL, the nervous system has a reduced ability to form myelin (hypomyelination).
  • 1.4K
  • 04 Jan 2021
Topic Review
Shprintzen-Goldberg Syndrome
Shprintzen-Goldberg syndrome is a disorder that affects many parts of the body.
  • 1.4K
  • 25 Dec 2020
Topic Review
SAVI
STING-associated vasculopathy with onset in infancy (SAVI) is a disorder involving abnormal inflammation throughout the body, especially in the skin, blood vessels, and lungs.
  • 1.4K
  • 24 Dec 2020
Topic Review
Yuan-Harel-Lupski Syndrome
Yuan-Harel-Lupski (YUHAL) syndrome is a rare neurological condition that has a combination of features of two other disorders, Potocki-Lupski syndrome and type 1A Charcot-Marie-Tooth disease.  
  • 1.4K
  • 24 Dec 2020
Topic Review
Genetic Susceptibility to AKI
Acute kidney injury (AKI) is a widely held concern related to a substantial burden of morbidity, mortality and expenditure in the healthcare system. AKI is not a simple illness but a complex conglomeration of syndromes that often occurs as part of other syndromes in its wide clinical spectrum of the disease. Genetic factors have been suggested as potentially responsible for its susceptibility and severity.
  • 1.4K
  • 27 Jul 2021
Topic Review
EGFR Gene
Epidermal growth factor receptor
  • 1.4K
  • 04 Jan 2021
Topic Review
CED9 (Gene)
Cell death abnormality gene 9 (CED-9), also known as apoptosis regulator CED-9, is a gene found in Caenorhabditis elegans that inhibits/represses programmed cell death (apoptosis). The gene was discovered while searching for mutations in the apoptotic pathway after the discovery of the apoptosis promoting genes CED-3 and CED-4. The gene gives rise to the apoptosis regulator CED-9 protein found as an Integral membrane protein in the mitochondrial membrane. The protein is homologous to the human apoptotic regulator Bcl-2 as well as all other proteins in the Bcl-2 protein family. CED-9 is involved in the inhibition of CED-4 which is the activator of the CED-3 caspase. Because of the pathway homology with humans as well as the specific protein homology, CED-9 has been used to represent the human cell apoptosis interactions of Bcl-2 in research.
  • 1.4K
  • 29 Nov 2022
Topic Review
Iron Assimilation
Iron is a key transition metal required by most microorganisms and is prominently utilised in the transfer of electrons during metabolic reactions. The acquisition of iron is essential and becomes a crucial pathogenic event for opportunistic fungi. Iron is not readily available in the natural environment as it exists in its insoluble ferric form, i.e., in oxides and hydroxides. During infection, the host iron is bound to proteins such as transferrin, ferritin, and haemoglobin. As such, access to iron is one of the major hurdles that fungal pathogens must overcome in an immunocompromised host. Thus, these opportunistic fungi utilise three major iron acquisition systems to overcome this limiting factor for growth and proliferation. (Draft for definition)
  • 1.4K
  • 09 Dec 2020
Topic Review
BRCA2
The tumor suppressor BRCA2 functions as a central caretaker of genome stability, and individuals who carry BRCA2 mutations are predisposed to breast, ovarian, and other cancers.
  • 1.4K
  • 28 Sep 2021
Topic Review
Precision Medicine
Precision medicine is "an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person."
  • 1.4K
  • 08 Apr 2021
Topic Review
Smith-Magenis Syndrome
Smith-Magenis syndrome is a developmental disorder that affects many parts of the body.
  • 1.4K
  • 25 Dec 2020
Topic Review
CASK-Related Intellectual Disability
CASK-related intellectual disability is a disorder of brain development that has two main forms: microcephaly with pontine and cerebellar hypoplasia (MICPCH), and X-linked intellectual disability (XL-ID) with or without nystagmus. Within each of these forms, males typically have more severe signs and symptoms than do females; the more severe MICPCH mostly affects females, likely because only a small number of males survive to birth.
  • 1.4K
  • 24 Dec 2020
Topic Review
Differentiation of Genes Encoding Peroxisome Proliferator-Activated Receptors
The heritability of the tendency to obesity is estimated to vary widely (from 5% to 90%), depending on the research method and the hypotheses being tested. Genetic components may play an important role, both in regulating metabolism and influencing behavioral aspects-in the presence of certain critical genetic variants, the dysregulation of energy metabolism can undoubtedly lead to an increased risk of obesity. Genes code for protein products that are directly involved in the processes of digestion, assimilation, and physiological utilization of nutrients supplied to the body. There are also genes whose products are important factors that influence the activation and regulation of various metabolic pathways and also determine the maintenance of the balance of metabolic changes and the shift of this balance in a specific direction. Finally, there are the genes that code for factors that influence human behavior, eating habits, dietary preferences and so on. Systemic regulation of metabolism takes place in human cells at many levels. At the deepest molecular level, metabolic flexibility depends on the configuration of many different metabolic pathways regulated by key transcription factors, many of which interact closely with each other. From this point of view, transcription factors are considered very important elements of metabolic regulatory networks. In this group, genes encoding peroxisome proliferator-activated receptors (PPARs) are among the best studied. PPARs provide balance in nutrient and energy metabolism and maintain metabolic flexibility important for lipid metabolism, glucose homeostasis, cholesterol metabolism, and other important metabolic networks. Differentiation of PPAR genes may affect the efficacy of reduction diets and post-exercise weight loss.
  • 1.4K
  • 06 Jan 2023
Topic Review
DHH Gene
Desert Hedgehog
  • 1.4K
  • 24 Dec 2020
Topic Review
Mediterranean Diet (MD)
The Mediterranean Diet (MD), UNESCO Intangible Cultural Heritage of Humanity, has become a scientific topic of high interest due to its health benefits. The aim of this review is to pick up selected studies that report nutrigenomic or nutrigenetic data and recapitulate some of the biochemical/genomic/genetic aspects involved in the positive health effects of the MD. These include (i) the antioxidative potential of its constituents with protective effects against several diseases; (ii) the epigenetic and epigenomic effects exerted by food components, such as Indacaxanthin, Sulforaphane, and 3-Hydroxytyrosol among others, and their involvement in the modulation of miRNA expression; (iii) the existence of predisposing or protective human genotypes due to allelic diversities and the impact of the MD on disease risk. A part of the review is dedicated to the nutrigenomic effects of the main cooking methods used in the MD and also to a comparative analysis of the nutrigenomic properties of the MD and other diet regimens and non-MD-related aliments. Taking all the data into account, the traditional MD emerges as a diet with a high antioxidant and nutrigenomic modulation power, which is an example of the “Environment-Livings-Environment” relationship and an excellent patchwork of interconnected biological actions working toward human health.
  • 1.4K
  • 25 Apr 2021
Topic Review
TBP Gene
TATA-box binding protein: The TBP gene provides instructions for making a protein called the TATA box binding protein. 
  • 1.4K
  • 24 Dec 2020
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