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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.
  • 990
  • 23 Mar 2021
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.
  • 990
  • 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.
  • 990
  • 24 Dec 2020
Topic Review
EPAS1 Gene
Endothelial PAS domain protein 1
  • 990
  • 24 Dec 2020
Topic Review
Factor VII Deficiency
Factor VII deficiency is a rare bleeding disorder that varies in severity among affected individuals.
  • 990
  • 25 Dec 2020
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. 
  • 990
  • 08 Feb 2021
Topic Review
PWS-Associated Genes, Their Imprinting, and Expression Pattern
Prader–Willi syndrome (PWS, OMIM #176270) and Schaaf–Yang syndrome (SYS, OMIM #615547) are rare autosomal-dominant, imprinted genetic disorders caused by the loss of one or more normally active paternal genes in the chromosomal region of 15q11-q13, called the PWS region.
  • 990
  • 31 Aug 2023
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.
  • 989
  • 24 Dec 2020
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.
  • 989
  • 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.
  • 989
  • 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.
  • 989
  • 24 Dec 2020
Topic Review
Alagille Syndrome
Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body.
  • 989
  • 31 Dec 2020
Topic Review
Spastic Paraplegia Type 7
Spastic paraplegia type 7 (also called SPG7) is part of a group of genetic disorders known as hereditary spastic paraplegias.
  • 988
  • 23 Dec 2020
Topic Review
Seasonal Affective Disorder
Seasonal affective disorder is a mental health condition that is triggered by the changing of the seasons.
  • 988
  • 24 Dec 2020
Topic Review
LPL Gene
Lipoprotein lipase
  • 988
  • 04 Jan 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.  
  • 987
  • 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.
  • 987
  • 24 Dec 2020
Topic Review
ACTA1 Gene
actin, alpha 1, skeletal muscle
  • 987
  • 24 Dec 2020
Topic Review
PIGV Gene
phosphatidylinositol glycan anchor biosynthesis class V
  • 987
  • 25 Dec 2020
Topic Review
CF aerosol related cellular models
The respiratory epithelium can be affected by many diseases that could be treated using aerosol gene therapy. Among these, cystic fibrosis (CF) is a lethal inherited disease characterized by airways complications, which determine the life expectancy and the effectiveness of aerosolized treatments. Beside evaluations performed under in vivo settings, cell culture models mimicking in vivo pathophysiological conditions can provide complementary insights into the potential of gene transfer strategies. Such models must consider multiple parameters, following the rationale that proper gene transfer evaluations depend on whether they are performed under experimental conditions close to pathophysiological settings. In addition, the mucus layer, which covers the epithelial cells, constitutes a physical barrier for gene delivery, especially in diseases such as CF. Artificial mucus models featuring physical and biological properties similar to CF mucus allow determining the ability of gene transfer systems to effectively reach the underlying epithelium.
  • 987
  • 14 Jan 2021
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