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Topic Review
HBA1 Gene
Hemoglobin subunit alpha 1
  • 1.1K
  • 22 Dec 2020
Topic Review
GBE1 Gene
1,4-alpha-glucan branching enzyme 1
  • 1.1K
  • 25 Dec 2020
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
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
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
Eph Receptor Family
The Eph receptor tyrosine kinase family is activated by binding to their cognate ephrin ligands and represents important components of signalling pathways involved in animal development.
  • 1.1K
  • 21 Jan 2021
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
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
Topic Review
TGFBI Gene
transforming growth factor beta induced
  • 1.1K
  • 25 Dec 2020
Topic Review
Genomic Testing Strategies
The decreasing sequencing cost and the rapid expansion of our knowledge of human disease genes has fueled a significant increase in the uptake and utilization of clinical genomic testing. It is essential that all healthcare providers understand the basic concepts of genetic testing and how to properly utilize this testing for each patient. There are several factors that need to be considered when choosing the appropriate testing strategy including and their utilization based on different clinical scenarios, test characteristics such as the types of genetic variation identified by each test, turnaround time, and diagnostic yield for different clinical indications. Effective application of this knowledge will aid healthcare providers in utilizing the most appropriate, fastest, and most cost-effective genetic test for their patients, thereby increasing the likelihood of a timely diagnosis and reducing the financial burden on the healthcare system by eliminating unnecessary and redundant testing. This entry is not comprehensive, but will provide the basic knowledge to understand the differences between various testing strategies and their limitations. 
  • 1.1K
  • 15 Jun 2021
Topic Review
PIGO Gene
phosphatidylinositol glycan anchor biosynthesis class O
  • 1.1K
  • 25 Dec 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
X-linked Cardiac Valvular Dysplasia
X-linked cardiac valvular dysplasia is a condition characterized by the abnormal development (dysplasia) of heart (cardiac) valves. The normal heart has four valves, two on the left side of the heart and two on the right side, that allow blood to move through the heart and prevent blood from flowing backward. In X-linked cardiac valvular dysplasia, one or more of the four heart valves is thickened and cannot open and close completely when the heart beats and pumps blood. These malformed valves can cause abnormal blood flow and an irregular heart sound during a heartbeat (heart murmur).  
  • 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
Zuotin-Related Factor 1
Recently, Zuotin-related factor 1 (ZRF1), an epigenetic regulator, was found to be involved in transcriptional regulation. In animals and humans, ZRF1 specifically binds to monoubiquitinated histone H2A through a ubiquitin-binding domain and derepresses Polycomb target genes at the beginning of cellular differentiation. In addition, ZRF1 can work as a tumor suppressor. According to bioinformatics analysis, ZRF1 homologs are widely found in plants.
  • 1.1K
  • 18 Aug 2021
Topic Review
Gene Amplification
Oncogene amplification is closely linked to the pathogenesis of a broad spectrum of human malignant tumors. The amplified genes localize either to the extrachromosomal circular DNA, which has been referred to as cytogenetically visible double minutes (DMs), or submicroscopic episome, or to the chromosomal homogeneously staining region (HSR). The extrachromosomal circle from a chromosome arm can initiate gene amplification, resulting in the formation of DMs or HSR, if it had a sequence element required for replication initiation (the replication initiation region/matrix attachment region; the IR/MAR), under a genetic background that permits gene amplification.
  • 1.1K
  • 12 Oct 2021
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
3-Beta-Hydroxysteroid Dehydrogenase Deficiency
3-beta (β)-hydroxysteroid dehydrogenase (HSD) deficiency is an inherited disorder that affects hormone-producing glands including the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty. The adrenal glands, which are located on top of the kidneys, regulate the production of certain hormones and control salt levels in the body. People with 3β-HSD deficiency lack many of the hormones that are made in these glands. 3β-HSD deficiency is one of a group of disorders known as congenital adrenal hyperplasias that impair hormone production and disrupt sexual development and maturation.
  • 1.1K
  • 23 Dec 2020
Topic Review
Polymicrogyria
Polymicrogyria is a condition characterized by abnormal development of the brain before birth. The surface of the brain normally has many ridges or folds, called gyri. In people with polymicrogyria, the brain develops too many folds, and the folds are unusually small. The name of this condition literally means too many (poly-) small (micro-) folds (-gyria) in the surface of the brain.
  • 1.1K
  • 24 Dec 2020
Topic Review
Complex interactions in T1D
Type 1 diabetes (T1D) is an auto-immune disorder characterized by a complex interaction between the host immune system and various environmental factors in genetically susceptible individuals. Genome-wide association studies (GWAS) identified different T1D risk and protection alleles, however, little is known about the environmental factors that can be linked to these alleles. Recent evidence indicated that, among those environmental factors, dysbiosis (imbalance) in the gut microbiota may play a role in the pathogenesis of T1D, affecting the integrity of the gut and leading to systemic inflammation and auto-destruction of the pancreatic β cells.
  • 1.1K
  • 12 Oct 2021
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