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Topic Review
FRAS1 Gene
Fraser extracellular matrix complex subunit 1
  • 816
  • 25 Dec 2020
Topic Review
GALK1 Gene
Galactokinase 1
  • 816
  • 25 Dec 2020
Topic Review
REN Gene
renin
  • 815
  • 23 Dec 2020
Topic Review
XPA Gene
XPA, DNA damage recognition and repair factor: The XPA gene provides instructions for making a protein that is involved in repairing damaged DNA. DNA can be damaged by ultraviolet (UV) rays from the sun and by toxic chemicals, radiation, and unstable molecules called free radicals.
  • 815
  • 24 Dec 2020
Topic Review
Allergic Asthma
Asthma is a breathing disorder characterized by inflammation of the airways and recurrent episodes of breathing difficulty. These episodes, sometimes referred to as asthma attacks, are triggered by irritation of the inflamed airways. In allergic asthma, the attacks occur when substances known as allergens are inhaled, causing an allergic reaction. Allergens are harmless substances that the body's immune system mistakenly reacts to as though they are harmful. Common allergens include pollen, dust, animal dander, and mold. The immune response leads to the symptoms of asthma. Allergic asthma is the most common form of the disorder.
  • 815
  • 24 Dec 2020
Topic Review
SFTPC Gene
surfactant protein C
  • 815
  • 24 Dec 2020
Topic Review
Phosphoglycerate Dehydrogenase Deficiency
Phosphoglycerate dehydrogenase deficiency is a condition characterized by an unusually small head size (microcephaly); impaired development of physical reactions, movements, and speech (psychomotor retardation); and recurrent seizures (epilepsy). Different types of phosphoglycerate dehydrogenase deficiency have been described; they are distinguished by their severity and the age at which symptoms first begin. Most affected individuals have the infantile form, which is the most severe form, and are affected from infancy. Symptoms of the juvenile and adult types appear later in life; these types are very rare.
  • 815
  • 24 Dec 2020
Topic Review
SLC26A4 Gene
solute carrier family 26 member 4
  • 815
  • 05 Apr 2021
Topic Review
FA2H Gene
Fatty Acid 2-Hydroxylase: The FA2H gene provides instructions for making an enzyme called fatty acid 2-hydroxylase. 
  • 815
  • 25 Dec 2020
Topic Review
PIK3R2 Gene
phosphoinositide-3-kinase regulatory subunit 2
  • 815
  • 25 Dec 2020
Topic Review
TYROBP Gene
TYRO protein tyrosine kinase binding protein.
  • 814
  • 23 Dec 2020
Topic Review
Motion Sickness
Motion sickness is a common condition characterized by a feeling of unwellness brought on by certain kinds of movement.
  • 814
  • 23 Dec 2020
Topic Review
Keratoderma with Woolly Hair
Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening heart problems.
  • 814
  • 23 Dec 2020
Topic Review
Ataxia-pancytopenia Syndrome
Ataxia-pancytopenia syndrome is a rare condition that affects the part of the brain that coordinates movement (the cerebellum) and blood-forming cells in the bone marrow. The age when signs and symptoms begin, the severity of the condition, and the rate at which it worsens all vary among affected individuals.
  • 814
  • 24 Dec 2020
Topic Review
Autosomal Recessive Hypotrichosis
Autosomal recessive hypotrichosis is a condition that affects hair growth. People with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. This hair is usually coarse, dry, and tightly curled (often described as woolly hair). Scalp hair may also be lighter in color than expected and is fragile and easily broken. Affected individuals often cannot grow hair longer than a few inches. The eyebrows, eyelashes, and other body hair may be sparse as well. Over time, the hair problems can remain stable or progress to complete scalp hair loss (alopecia) and a decrease in body hair.
  • 814
  • 24 Dec 2020
Topic Review
Bart-Pumphrey Syndrome
Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss.
  • 814
  • 24 Dec 2020
Topic Review
GJC2 Gene
Gap junction protein gamma 2
  • 814
  • 25 Dec 2020
Topic Review
Spinocerebellar Ataxia Type 36
Spinocerebellar ataxia type 36 (SCA36) is a condition characterized by progressive problems with movement that typically begin in mid-adulthood. People with this condition initially experience problems with coordination and balance (ataxia). Affected individuals often have exaggerated reflexes (hyperreflexia) and problems with speech (dysarthria). They also usually develop muscle twitches (fasciculations) of the tongue and over time, the muscles in the tongue waste away (atrophy). These tongue problems can cause difficulties swallowing liquids. As the condition progresses, individuals with SCA36 develop muscle atrophy in the legs, forearms, and hands. Another common feature of SCA36 is the atrophy of specialized nerve cells that control muscle movement (motor neurons), which can contribute to the tongue and limb muscle atrophy in affected individuals.  
  • 813
  • 23 Dec 2020
Topic Review
Glycogen Storage Disease Type V
Glycogen storage disease type V (also known as GSDV or McArdle disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells.
  • 813
  • 23 Dec 2020
Topic Review
TBC1D24 Gene
TBC1 domain family member 24: The TBC1D24 gene provides instructions for making a protein whose specific function in the cell is unclear.
  • 813
  • 24 Dec 2020
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