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Topic Review
Pyruvate Kinase Deficiency
Pyruvate kinase deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues.
  • 995
  • 23 Mar 2021
Topic Review
Osteoglophonic Dysplasia
Osteoglophonic dysplasia is a condition characterized by abnormal bone growth that leads to severe head and face (craniofacial) abnormalities, dwarfism, and other features. The term osteoglophonic refers to the bones (osteo-) having distinctive hollowed out (-glophonic) areas that appear as holes on x-ray images.
  • 995
  • 24 Dec 2020
Topic Review
Pachyonychia Congenita
Pachyonychia congenita is a condition that primarily affects the skin and nails. The signs and symptoms of this condition usually become apparent within the first few years of life.
  • 995
  • 24 Dec 2020
Topic Review
Dentinogenesis Imperfecta
Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary (baby) teeth and permanent teeth.teeth.
  • 995
  • 24 Dec 2020
Topic Review
Protein Variants in Cancer-Related Genes
Large scale genome sequencing allowed the identification of a massive number of genetic variations, whose impact on human health is still unknown. In this entry we analyze, by an in silico-based strategy, the impact of missense variants on cancer-related genes, whose effect on protein stability and function was experimentally determined. We collected a set of 164 variants from 11 proteins to analyze the impact of missense mutations at structural and functional levels, and to assess the performance of state-of-the-art methods (FoldX and Meta-SNP) for predicting protein stability change and pathogenicity. 
  • 995
  • 22 Sep 2021
Topic Review
TUBB4A-related Leukodystrophy
TUBB4A-related leukodystrophy is a disorder that affects the nervous system. Leukodystrophies are conditions that involve abnormalities of the nervous system's white matter, which consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses. In particular, TUBB4A-related leukodystrophy involves hypomyelination, which means that the nervous system has a reduced ability to form myelin. In some affected individuals, myelin may also break down, which is known as demyelination.  
  • 994
  • 23 Dec 2020
Topic Review
Atelosteogenesis Type 1
Atelosteogenesis type 1 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Characteristic facial features include a prominent forehead, wide-set eyes (hypertelorism), an upturned nose with a grooved tip, and a very small lower jaw and chin (micrognathia). Affected individuals may also have an opening in the roof of the mouth (a cleft palate). Males with this condition can have undescended testes.
  • 994
  • 24 Dec 2020
Topic Review
Cole Disease
Cole disease is a disorder that affects the skin. People with this disorder have areas of unusually light-colored skin (hypopigmentation), typically on the arms and legs, and spots of thickened skin on the palms of the hands and the soles of the feet (punctate palmoplantar keratoderma). These skin features are present at birth or develop in the first year of life.
  • 994
  • 24 Dec 2020
Topic Review
Campomelic Dysplasia
Campomelic dysplasia is a severe disorder that affects development of the skeleton, reproductive system, and other parts of the body. This condition is often life-threatening in the newborn period.
  • 994
  • 24 Dec 2020
Topic Review
Dilated Cardiomyopathy with Ataxia Syndrome
Dilated cardiomyopathy with ataxia (DCMA) syndrome is an inherited condition characterized by heart problems, movement difficulties, and other features affecting multiple body systems.
  • 994
  • 24 Dec 2020
Topic Review
Factor VII Deficiency
Factor VII deficiency is a rare bleeding disorder that varies in severity among affected individuals.
  • 994
  • 25 Dec 2020
Topic Review
Fukuyama Congenital Muscular Dystrophy
Fukuyama congenital muscular dystrophy is an inherited condition that predominantly affects the muscles, brain, and eyes. Congenital muscular dystrophies are a group of genetic conditions that cause muscle weakness and wasting (atrophy) beginning very early in life.
  • 993
  • 24 Dec 2020
Topic Review
NCF1 Gene
neutrophil cytosolic factor 1
  • 993
  • 23 Dec 2020
Topic Review
Alpers-Huttenlocher Syndrome
Alpers-Huttenlocher syndrome is one of the most severe of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Alpers-Huttenlocher syndrome typically becomes apparent in children between ages 2 and 4. People with this condition usually have three characteristic features: recurrent seizures that do not improve with treatment (intractable epilepsy), loss of mental and movement abilities (psychomotor regression), and liver disease.
  • 993
  • 24 Dec 2020
Topic Review
PIGV Gene
phosphatidylinositol glycan anchor biosynthesis class V
  • 993
  • 25 Dec 2020
Topic Review
LPL Gene
Lipoprotein lipase
  • 993
  • 04 Jan 2021
Topic Review
Vaccination under COVID-19 Pandemic
The current COVID-19 pandemic, caused by severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2), has raised significant economic, social, and psychological concerns. The rapid spread of the virus, coupled with the absence of vaccines and antiviral treatments for SARS-CoV-2, has galvanized a major global endeavor to develop effective vaccines. Within a matter of just a few months of the initial outbreak, research teams worldwide, adopting a range of different strategies, embarked on a quest to develop effective vaccine that could be effectively used to suppress this virulent pathogen. 
  • 993
  • 08 Feb 2021
Topic Review
Spondyloenchondrodysplasia with Immune Dysregulation
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an inherited condition that primarily affects bone growth and immune system function. The signs and symptoms of SPENCDI can become apparent anytime from infancy to adolescence.  
  • 992
  • 23 Dec 2020
Topic Review
PLCG2 Gene
phospholipase C gamma 2
  • 992
  • 25 Dec 2020
Topic Review
Alagille Syndrome
Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body.
  • 992
  • 31 Dec 2020
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