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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
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
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
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
TGFBI Gene
transforming growth factor beta induced
  • 1.1K
  • 25 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
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
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
Formins in Human Monogenic Disease
Almost 25 years have passed since a mutation of a formin gene, DIAPH1, was identified as being responsible for a human inherited disorder: a form of sensorineural hearing loss. Since then, our knowledge of the links between formins and disease has deepened considerably. Mutations of DIAPH1 and six other formin genes (DAAM2, DIAPH2, DIAPH3, FMN2, INF2 and FHOD3) have been identified as the genetic cause of a variety of inherited human disorders, including intellectual disability, renal disease, peripheral neuropathy, thrombocytopenia, primary ovarian insufficiency, hearing loss and cardiomyopathy.
  • 1.1K
  • 18 Oct 2021
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
PIGO Gene
phosphatidylinositol glycan anchor biosynthesis class O
  • 1.1K
  • 25 Dec 2020
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
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
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
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
Succinate-CoA Ligase Deficiency
Succinate-CoA ligase deficiency is an inherited disorder that affects the early development of the brain and other body systems.
  • 1.1K
  • 23 Dec 2020
Topic Review
POR Gene
cytochrome p450 oxidoreductase
  • 1.1K
  • 25 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
Topic Review
Spinocerebellar Ataxia Type 1
Spinocerebellar ataxia type 1 (SCA1) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other signs and symptoms of SCA1 include speech and swallowing difficulties, muscle stiffness (spasticity), and weakness in the muscles that control eye movement (ophthalmoplegia). Eye muscle weakness leads to rapid, involuntary eye movements (nystagmus). Individuals with SCA1 may have difficulty processing, learning, and remembering information (cognitive impairment).
  • 1.1K
  • 23 Dec 2020
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