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Topic Review
Major Depressive Disorder
        Despite the extensive research conducted in the last decades, the molecular mechanisms underlying major depressive disorder (MDD) and relative evidence-based treatments remain unclear. Various hypotheses have been successively proposed, involving different biological systems. This narrative review aims to critically illustrate the main pathogenic hypotheses of MDD, ranging from the historical ones based on the monoaminergic and neurotrophic theories, through the subsequent neurodevelopmental, glutamatergic, GABAergic, inflammatory/immune and endocrine explanations, until the most recent evidence postulating a role for fatty acids and the gut microbiota. Moreover, the molecular effects of established both pharmacological and non-pharmacological approaches for MDD are also reviewed. Overall, the existing literature indicates that the molecular mechanisms described in the context of these different hypotheses, rather than representing alternatives one to each other, are likely to contribute together, often with reciprocal interactions, to the development of MDD and to the effectiveness of treatments, and points at the need for further research efforts in this field. 
  • 1.1K
  • 26 Oct 2020
Topic Review
HBA1 Gene
Hemoglobin subunit alpha 1
  • 1.1K
  • 22 Dec 2020
Topic Review
Mitochondrial Complex V Deficiency
Mitochondrial complex V deficiency is a shortage (deficiency) of a protein complex called complex V or a loss of its function. Complex V is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. Complex V is the last of five mitochondrial complexes that carry out a multistep process called oxidative phosphorylation, through which cells derive much of their energy.
  • 1.1K
  • 23 Dec 2020
Topic Review
TMEM127 Gene
Transmembrane protein 127 (TMEM 127): Mutations in the TMEM127 gene increase the risk of developing a noncancerous tumor associated with the nervous system called paraganglioma or pheochromocytoma (a type of paraganglioma).
  • 1.1K
  • 25 Dec 2020
Topic Review
Complement Factor I Deficiency
Complement factor I deficiency is a disorder that affects the immune system. People with this condition are prone to recurrent infections, including infections of the upper respiratory tract, ears, skin, and urinary tract. They may also contract more serious infections such as pneumonia, meningitis, and sepsis, which may be life-threatening.
  • 1.1K
  • 24 Dec 2020
Topic Review
X-linked Thrombocytopenia
X-linked thrombocytopenia is a bleeding disorder that primarily affects males.
  • 1.1K
  • 24 Dec 2020
Topic Review
Orthostatic Hypotension
Orthostatic hypotension is a drop in blood pressure that occurs when moving from a laying down (supine) position to a standing (upright) position. The word "orthostasis" means to stand up, so the condition is defined as low blood pressure (hypotension) that occurs upon standing.
  • 1.1K
  • 24 Dec 2020
Topic Review
Spinocerebellar Ataxia Type 3
Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA3 include speech difficulties, uncontrolled muscle tensing (dystonia), muscle stiffness (spasticity), rigidity, tremors, bulging eyes, and double vision. People with this condition may experience sleep disorders such as restless leg syndrome or REM sleep behavior disorder. Restless leg syndrome is a condition characterized by numbness or tingling in the legs accompanied by an urge to move the legs to stop the sensations. REM sleep behavior disorder is a condition in which the muscles are active during the dream (REM) stage of sleep, so an affected person often acts out his or her dreams. These sleep disorders tend to leave affected individuals feeling tired during the day.  
  • 1.1K
  • 23 Dec 2020
Topic Review
Common Rust in Maize Germplasm
To dissect the genetic architecture of Common rust (CR) resistance caused by Puccina sorghi in maize, we applied association mapping, in conjunction with linkage mapping, joint linkage association mapping (JLAM), and genomic prediction (GP) was conducted on an association-mapping panel and five F3 biparental populations using genotyping-by-sequencing (GBS) single-nucleotide polymorphisms (SNPs). Genome-wide association study (GWAS) analyses revealed 14 significant marker-trait associations which individually explained 6–10% of the total phenotypic variances. Individual population-based linkage analysis revealed 26 QTLs associated with CR resistance and together explained 14–40% of the total phenotypic variances. JLAM for the 921 F3 families from five populations detected 18 QTLs distributed in all chromosomes except on chromosome 8. These QTLs individually explained 0.3 to 3.1% and together explained 45% of the total phenotypic variance. Among the 18 QTL detected through JLAM, six QTLs, qCR1-78, qCR1-227, qCR3-172, qCR3-186, qCR4-171, and qCR7-137 were also detected in linkage mapping. GP within population revealed low to moderate correlations with a range from 0.19 to 0.51. Prediction correlation was high with r = 0.78 for combined analysis of the five F3 populations. Prediction of biparental populations by using association panel as training set reveals positive correlations ranging from 0.05 to 0.22, which encourages to develop an independent but related population as a training set which can be used to predict diverse but related populations. The findings of this study provide valuable information on understanding the genetic basis of CR resistance and the obtained information can be used for developing functional molecular markers for marker-assisted selection and for implementing GP to improve CR resistance in tropical maize.
  • 1.1K
  • 09 Sep 2020
Topic Review
Glycogen Storage Disease Type 0
Glycogen storage disease type 0 (also known as GSD 0) is a condition caused by the body's inability to form a complex sugar called glycogen, which is a major source of stored energy in the body. GSD 0 has two types: in muscle GSD 0, glycogen formation in the muscles is impaired, and in liver GSD 0, glycogen formation in the liver is impaired.
  • 1.1K
  • 23 Dec 2020
Topic Review
Mutations and Health
A gene mutation is a permanent alteration in the DNA sequence that makes up a gene, such that the sequence differs from what is found in most people.  By changing a gene's instructions for making a protein, a mutation can cause the protein to malfunction or to be missing entirely. When a mutation alters a protein that plays a critical role in the body, it can disrupt normal development or cause a medical condition.
  • 1.1K
  • 24 Dec 2020
Topic Review
Epidermal Nevus
An epidermal nevus (plural: nevi) is an abnormal, noncancerous (benign) patch of skin caused by an overgrowth of cells in the outermost layer of skin (epidermis). Epidermal nevi are typically seen at birth or develop in early childhood. Affected individuals have one or more nevi that vary in size.
  • 1.1K
  • 25 Dec 2020
Topic Review
GBE1 Gene
1,4-alpha-glucan branching enzyme 1
  • 1.1K
  • 25 Dec 2020
Topic Review
Adenylosuccinate Lyase
Adenylosuccinate Lyase (ADSL) is a homotetrameric enzyme exhibiting a dual catalytic role: the conversion of succinylaminoimidazolecarboxamide (SAICA)-ribotide (SAICAR) into AICA-ribotide (AICAR) (de novo purine synthesis pathway) and the formation of AMP from adenylosuccinate in the purine nucleotide cycle. ADSL deficiency is a rare autosomal recessive disorder, first described by Jaeken and Van den Berghe, caused by more than 150 different mutations (most of which missense), in the ADSL gene. In all cases, the mutations lead to an ADSL enzyme that retains some residual activity, possibly because a complete loss of activity is probably lethal in humans. The clinical presentation includes neurologic symptoms, namely intellectual disability, autism spectrum disorder, microcephaly, and seizures. Three different phenotypes have been reported on the basis of the age of onset and the severity of symptoms: the fatal neonatal form, presenting with hypokinesia, intractable seizures, and respiratory failure; the type I form presenting within the first months of life, characterized by severe psychomotor retardation, microcephaly, seizures, and autistic features; and the type II form, presenting within the first years of life, with moderate or slight psychomotor retardation]. Life expectation in ADSL deficiency is variable. The neonatal form may lead to early death, whereas onset in early childhood usually results in a stable course.
  • 1.1K
  • 18 Jul 2023
Topic Review
RNA Oxidation in Neurodegenerative Diseases
Recent studies have shown that RNAs are susceptible to oxidative damage and oxidized RNA is able to break the RNA strand, and affect the protein synthesis, which can lead to cell degradation and cell death. Studies have shown that RNA oxidation is one of the early events in the formation and development of neurodegenerative disorders, including Alzheimer’s disease, Parkinson’s disease, and amyotrophic lateral sclerosis. However, its molecular mechanism, as well as its impact on these diseases, are still unclear. In this article, we review the different types of RNA oxidative damage and the neurodegenerative diseases that are reported to be associated with RNA oxidative damage. In addition, we discuss recent findings on the association between RNA oxidative damage and the development of neurodegenerative diseases, which will have great significance for the development of novel strategies for the prevention and treatment of these diseases.
  • 1.1K
  • 28 Oct 2020
Topic Review
European Mink Mustela lutreola L.,1761
European mink Mustela lutreola L., 1761 is considered one of the most endangered mammalian species in the world, due to its ongoing population depletion, both in terms of the actual number of individuals and area occupied. The species was originally spread over most of continental Europe, but nowadays only three wild, isolated, declining populations occupying less than 3% of the former range survive with only about 5000 individuals are estimated persisted in the wild. The alarming situation of the species is proven by its categorization as critically endangered (CR) by the International Union for Conservation of Nature (IUCN) Red List of Threatened Species, and it is listed in Annex II to the Bern Convention on the Conservation of European Wildlife and Natural Habitats, Annexes II and IV (priority species) of the Council Directive 92/43/EEC on the conservation of natural habitats and of wild fauna and flora, and in The Carpathian List of Endangered Species (critically endangered species (CR)). Despite this, studies in the field of genetics of M. lutreola are limited and urgently need to be completed, especially in the context of the progressing extinction process and the disappearance of its numerous populations in France, Belarus, and Russia, among others. The rapidly shrinking and vanishing genetic resources will largely never be studied and described, which is an irreversible loss from cognitive and practical points of view. The meagre data on interpopulation genetic diversity may significantly impair the efficacy of the implemented activities for restitution of the European mink, especially in the context of conservation breeding and species reintroduction. Notably, only (conservation) genetics can provide tools to rescue species affected by the extinction vortex, which, in turn, requires more research initiatives in the conservation genetics of the European mink.
  • 1.1K
  • 20 Nov 2020
Topic Review
Achondroplasia
Achondroplasia is a form of short-limbed dwarfism. The word achondroplasia literally means "without cartilage formation." Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. However, in achondroplasia the problem is not in forming cartilage but in converting it to bone (a process called ossification), particularly in the long bones of the arms and legs. Achondroplasia is similar to another skeletal disorder called hypochondroplasia, but the features of achondroplasia tend to be more severe.
  • 1.1K
  • 23 Dec 2020
Topic Review
Genome Wide Association Studies
The identification and characterisation of genomic changes (variants) that can lead to human diseases is one of the central aims of biomedical research. In order to take on this challenging task, Genome-Wide Association Studies (GWAS) were proposed as a statistical method that could be used to identify the genomic variants that are associated with complex traits or diseases. GWAS do not require any previous biological knowledge on the analyzed trait, as they allow the simultaneous interrogation of millions of variants genome-wide. As a result, GWAS have been largely used, substantially contributing to the generation of catalogues of genetic variants that have an impact on specific diseases. GWAS results constitute nowadays the basis of Personalised Medicine, where diagnoses and treatment protocols are selected according to each patient’s profile.
  • 1.1K
  • 23 Dec 2021
Topic Review
Myofibrillar Myopathy
Myofibrillar myopathy is part of a group of disorders called muscular dystrophies that affect muscle function and cause weakness. Myofibrillar myopathy primarily affects skeletal muscles, which are muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected.
  • 1.1K
  • 23 Dec 2020
Topic Review
Barth Syndrome
Barth syndrome is a rare condition characterized by an enlarged and weakened heart (dilated cardiomyopathy), weakness in muscles used for movement (skeletal myopathy), recurrent infections due to small numbers of white blood cells (neutropenia), and short stature. Barth syndrome occurs almost exclusively in males.
  • 1.1K
  • 24 Dec 2020
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