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Topic Review
Genes Involved in the Pathogenic Potential of Mucorales
The classification of Mucorales encompasses a collection of basal fungi that have traditionally demonstrated an aversion to modern genetic manipulation techniques. This aversion led to a scarcity of knowledge regarding their biology compared to other fungal groups. However, the emergence of mucormycosis, a fungal disease caused by Mucorales, has attracted the attention of the clinical field, mainly because available therapies are ineffective for decreasing the fatal outcome associated with the disease. 
  • 847
  • 22 Mar 2023
Topic Review
Granulomatosis with Polyangiitis
Granulomatosis with polyangiitis (GPA) is a condition that causes inflammation that primarily affects the respiratory tract (including the lungs and airways) and the kidneys. This disorder is formerly known as Wegener granulomatosis.
  • 846
  • 23 Dec 2020
Topic Review
Pyruvate Carboxylase Deficiency
Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system.
  • 846
  • 24 Dec 2020
Topic Review
Familial Hyperaldosteronism
Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are small glands located on top of each kidney, produce too much of the hormone aldosterone. Aldosterone helps control the amount of salt retained by the kidneys. Excess aldosterone causes the kidneys to retain more salt than normal, which in turn increases the body's fluid levels and blood pressure. People with familial hyperaldosteronism may develop severe high blood pressure (hypertension), often early in life. Without treatment, hypertension increases the risk of strokes, heart attacks, and kidney failure.
  • 846
  • 25 Dec 2020
Topic Review
PHKB Gene
phosphorylase kinase regulatory subunit beta
  • 846
  • 25 Dec 2020
Topic Review
PNKP Gene
polynucleotide kinase 3'-phosphatase
  • 846
  • 25 Dec 2020
Topic Review
TSHB Gene
thyroid stimulating hormone beta
  • 845
  • 23 Dec 2020
Topic Review
Isolated Pierre Robin Sequence
Pierre Robin sequence is a set of abnormalities affecting the head and face, consisting of a small lower jaw (micrognathia), a tongue that is placed further back than normal (glossoptosis), and blockage (obstruction) of the airways.
  • 845
  • 23 Dec 2020
Topic Review
TECPR2 Gene
Tectonin beta-propeller repeat containing 2: The TECPR2 gene provides instructions for making a protein that is involved in a cellular process called autophagy. 
  • 845
  • 24 Dec 2020
Topic Review
ABCG5 Gene
ATP binding cassette subfamily G member 5
  • 845
  • 24 Dec 2020
Topic Review
Schwannomatosis
Schwannomatosis is a disorder characterized by multiple noncancerous (benign) tumors called schwannomas, which are a type of tumor that grows on nerves.
  • 845
  • 24 Dec 2020
Topic Review
PPT1 Gene
palmitoyl-protein thioesterase 1
  • 845
  • 25 Dec 2020
Topic Review
TERT Gene
Telomerase reverse transcriptase: The TERT gene provides instructions for making one component of an enzyme called telomerase.
  • 845
  • 24 Dec 2020
Topic Review
CYP19A1 Gene
Cytochrome P450 Family 19 Subfamily A Member 1
  • 844
  • 23 Dec 2020
Topic Review
VPS13B Gene
Vacuolar protein sorting 13 homolog B.
  • 844
  • 24 Dec 2020
Topic Review
Complete LCAT Deficiency
Complete LCAT deficiency is a disorder that primarily affects the eyes and kidneys.
  • 844
  • 24 Dec 2020
Topic Review
Factor XIII Deficiency
Factor XIII deficiency is a rare bleeding disorder. Researchers have identified an inherited form and a less severe form that is acquired during a person's lifetime.
  • 844
  • 25 Dec 2020
Topic Review
PRPS1 Gene
phosphoribosyl pyrophosphate synthetase 1
  • 843
  • 22 Dec 2020
Topic Review
Stevens-Johnson Syndrome/toxic Epidermal Necrolysis
Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a severe skin reaction most often triggered by particular medications. Although Stevens-Johnson syndrome and toxic epidermal necrolysis were once thought to be separate conditions, they are now considered part of a continuum. Stevens-Johnson syndrome represents the less severe end of the disease spectrum, and toxic epidermal necrolysis represents the more severe end.  
  • 843
  • 23 Dec 2020
Topic Review
Mucopolysaccharidosis Type I
Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types.
  • 843
  • 23 Dec 2020
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