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Topic Review
ECM1 Gene
Extracellular matrix protein 1
  • 997
  • 24 Dec 2020
Topic Review
STAC3 Disorder
STAC3 disorder (formerly known as Native American myopathy) is a condition that primarily affects skeletal muscles, which are muscles that the body uses for movement.
  • 995
  • 24 Dec 2020
Topic Review
TERF2
Telomeric repeat-binding factor 2 is a protein that is present at telomeres throughout the cell cycle. It is also known as TERF2, TRF2, and TRBF2, and is encoded in humans by the TERF2 gene. It is a component of the shelterin nucleoprotein complex and a second negative regulator of telomere length, playing a key role in the protective activity of telomeres. It was first reported in 1997 in the lab of Titia de Lange, where a DNA sequence similar, but not identical, to TERF1 was discovered, with respect to the Myb-domain. De Lange isolated the new Myb-containing protein sequence and called it TERF2.
  • 995
  • 03 Nov 2022
Topic Review
Elovl4 genes in Sparus aurata
Very long-chain (˃C24) fatty acids (VLC-FA) play critical roles during early development of vertebrates, since these compounds are accumulated in the rapidly forming neural tissues, ensuring their normal function. However, despite their putative importance, the study of VLC-FA in fish is scarce. Biosynthesis of VLC-FA is carried out by the so-called elongation of very long-chain fatty acid 4 (Elovl4) proteins and, consequently, the complement and function of these enzymes determine the capacity that a given species has for satisfying the physiological demands for VLC-FA, especially during its early development. The present study aimed to characterize elovl4 genes from the marine teleosts Sparus aurata and Solea senegalensis, and determine the function of the corresponding encoded proteins. Moreover, the tissue expression pattern of elovl4 genes was determined. The results confirmed that both fish species possess two distinct Elovl4 proteins termed as Elovl4a and Elovl4b based on their homology to the zebrafish orthologs. Functional assays in yeast denoted that both Elovl4a and Elovl4b from both species had the capability to elongate C20-24 fatty acid precursors to VLC-FA products. However, Elovl4b appeared to have a higher activity than Elovl4a elongating all the polyunsaturated fatty acid substrates assayed to longer chain polyunsaturated products, especially on the n-3 series. Gene expression results indicated that, although elovl4 transcripts were detected in most tissues analyzed, elovl4 genes were more strongly expressed in both species neural tissues such as brain and eyes, which showed the highest expression levels of elovl4a and elovl4b, respectively. These results are consistent with the functions of Elovl4 from other vertebrates. Importantly, these findings contribute to a better understanding of the VLC-FA biosynthetic pathway in marine teleosts, highlighting the crucial role that Elovl4 products carry out for the correct development and maintenance of neurophysiologic functions during early stages of the fish development.
  • 994
  • 28 Oct 2020
Topic Review
CRISPR-Cas9
CRISPR-Cas9 is a simple two-component system that allows researchers to accurately edit any sequence in the genome of an organism. This is achieved by the guide RNA, which recognizes the target sequence, and the CRISPR-associated endonuclease (Cas) that cuts the targeted sequence.
  • 989
  • 16 Dec 2020
Topic Review
Ataxia Telangiectasia Mutated
ATM is among of the most critical initiators and coordinators of the DNA-damage response. ATM canonical and non-canonical signaling pathways involve hundreds of downstream targets that control many important cellular processes such as DNA damage repair, apoptosis, cell cycle arrest, metabolism, proliferation, oxidative sensing, among others. Of note, ATM is often considered a major tumor suppressor because of its ability to induce apoptosis and cell cycle arrest. However, in some advanced stage tumor cells, ATM signaling is increased and confers remarkable advantages for cancer cell survival, resistance to radiation and chemotherapy, biosynthesis, proliferation, and metastasis. 
  • 988
  • 02 Jun 2021
Topic Review
Gorlin-Chaudhry-Moss Syndrome
Gorlin-Chaudhry-Moss syndrome is a condition that affects many parts of the body. The signs and symptoms of this disorder are apparent from birth or infancy.
  • 986
  • 23 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.
  • 983
  • 27 Jul 2021
Topic Review
5HTTLPR Genetic Variant
Major Depressive Disorder (MDD) is a disease that involves biological, psychological, and social interactions. Studies have shown the importance of genetics contribution to MDD development. The SCL6A4 protein (5HTTLPR) functions transporting serotonin, a neurotransmitter linked to mood and emotion, to the synaptic cleft. Hence, this study seeks a better comprehension of the 5HTTLPR genetic variant association with MDD and its influence nervous system through a literature review.  
  • 981
  • 18 Nov 2020
Topic Review
XMEN
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (typically known by the acronym XMEN) is a disorder that affects the immune system in males. 
  • 978
  • 04 Jan 2021
Topic Review
PHARC Syndrome
PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa (RP) and early-onset cataract) is an acronym for a rare, neurodegenerative disease caused by biallelic variants in the ABHD12 gene
  • 974
  • 12 Oct 2021
Topic Review
HSAN IE
Hereditary sensory and autonomic neuropathy type IE (HSAN IE) is a disorder that affects the nervous system. It is characterized by three main features: hearing loss, a decline of intellectual function (dementia), and a worsening loss of sensation in the feet and legs (peripheral neuropathy).
  • 974
  • 04 Jan 2021
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.  
  • 971
  • 24 Dec 2020
Topic Review
Baraitser-Winter Syndrome
Baraitser-Winter syndrome is a condition that affects the development of many parts of the body, particularly the face and the brain.
  • 964
  • 24 Dec 2020
Topic Review
Wastewater Based Epidemiology
Wastewater-Based epidemiology (WBE) is spreading of any disease or disorder caused by the chemicals or pathogens that come from waste materials such as urine, fecal materials, medical waste  or any solid or liquid waste product. The extraction, detection, analysis, and interpretation of chemical/biological compounds (biomarkers) excreted in the sewage system can eventually contribute to WBE. So wastewater analysis could be equivalent to community-based urine and fecal analysis that can subsequently give a reflection  of community health. Under pandemic situation with time limitations and restrict access to massive diagnostic, an alternative approach as a complementary tool to investigate virus circulation in the community is essential. In the situation of limited and time-consuming diagnostic tests, monitoring sewage systems could better estimate the spread of the virus and determine whether there are potential cases because wastewater surveillance can also account for those who contract mild or asymptomatic state.
  • 963
  • 06 Sep 2021
Topic Review
Hox Gene Expression
Hox genes play key roles in axial patterning and regulating the regional identity of cells and tissues in a wide variety of animals from invertebrates to vertebrates.
  • 956
  • 18 Jan 2022
Topic Review
Type 2 Diabetes
Type 2 diabetes is a disorder characterized by abnormally high blood sugar levels. In this form of diabetes, the body stops using and making insulin properly. Insulin is a hormone produced in the pancreas that helps regulate blood sugar levels. Specifically, insulin controls how much glucose (a type of sugar) is passed from the blood into cells, where it is used as an energy source. When blood sugar levels are high (such as after a meal), the pancreas releases insulin to move the excess glucose into cells, which reduces the amount of glucose in the blood.
  • 955
  • 07 Apr 2023
Topic Review
Scarr-Rowe Effect
In behavioral genetics, the Scarr-Rowe effect, also known as the Scarr-Rowe hypothesis, refers to the proposed moderating effect of low socioeconomic status on the heritability of children's IQ. According to this hypothesis, lower socioeconomic status and greater exposure to social disadvantage during childhood leads to a decrease in the heritability of IQ, as compared to children raised in more advantaged environments. It is considered an example of gene–environment interaction. This hypothesized effect was first proposed by Sandra Scarr, who found support for it in a 1971 study of twins in Philadelphia, and these results were replicated by David C. Rowe in 1999. A 2015 meta-analysis found the effect was predominant in the United States while less evident in societies with robust child welfare systems.
  • 954
  • 10 Nov 2022
Topic Review
Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures.
  • 952
  • 24 Dec 2020
Topic Review
16p11.2 Duplication
16p11.2 duplication is a chromosomal change in which a small amount of genetic material within chromosome 16 is abnormally copied (duplicated). The duplication occurs near the middle of the chromosome at a location designated p11.2. This duplication can have a variety of effects. Common characteristics that occur in people with a 16p11.2 duplication include a low weight; a small head size (microcephaly); and developmental delay, especially in speech and language. Affected individuals also have an increased risk of behavioral problems. However, some people with the duplication have no identified physical or behavioral abnormalities.
  • 949
  • 23 Dec 2020
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