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Topic Review
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia is a form of acute myeloid leukemia, a cancer of the blood-forming tissue (bone marrow). In normal bone marrow, hematopoietic stem cells produce red blood cells (erythrocytes) that carry oxygen, white blood cells (leukocytes) that protect the body from infection, and platelets (thrombocytes) that are involved in blood clotting. In acute promyelocytic leukemia, immature white blood cells called promyelocytes accumulate in the bone marrow. The overgrowth of promyelocytes leads to a shortage of normal white and red blood cells and platelets in the body, which causes many of the signs and symptoms of the condition.
  • 910
  • 24 Dec 2020
Topic Review
TNNT2 Gene
Troponin T2, cardiac type: The TNNT2 gene provides instructions for making a protein called cardiac troponin T, which is found solely in the heart (cardiac) muscle.
  • 910
  • 25 Dec 2020
Topic Review
Tyrosinemia
Tyrosinemia is a genetic disorder characterized by disruptions in the multistep process that breaks down the amino acid tyrosine, a building block of most proteins. If untreated, tyrosine and its byproducts build up in tissues and organs, which can lead to serious health problems.    
  • 909
  • 23 Dec 2020
Topic Review
SOX9
SRY-box 9
  • 909
  • 24 Dec 2020
Topic Review
Sick Sinus Syndrome
Sick sinus syndrome (also known as sinus node dysfunction) is a group of related heart conditions that can affect how the heart beats.
  • 909
  • 25 Dec 2020
Topic Review
Epigenetic Aspects of Rare Diseases
Epigenetics plays an important role in pathogenicity since it regulates basic cellular functions, such as gene expression, DNA damage, chromatin topology, and chromosomal organization. Rare diseases affect more than 300 million people worldwide.
  • 909
  • 05 Aug 2022
Topic Review
MyD88 Deficiency
MyD88 deficiency is an inherited disorder of the immune system (primary immunodeficiency).
  • 908
  • 23 Dec 2020
Topic Review
DSPP Gene
Dentin Sialophosphoprotein: The DSPP gene provides instructions for making a protein called dentin sialophosphoprotein. 
  • 908
  • 24 Dec 2020
Topic Review
Progressive Osseous Heteroplasia
Progressive osseous heteroplasia is a disorder in which bone forms within skin and muscle tissue.
  • 908
  • 24 Dec 2020
Topic Review
TGFBR1 Gene
transforming growth factor beta receptor 1
  • 908
  • 25 Dec 2020
Topic Review
Fanconi Anemia
Fanconi anemia is a condition that affects many parts of the body. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers.
  • 908
  • 25 Dec 2020
Topic Review
POLR3A Gene
RNA polymerase III subunit A
  • 908
  • 25 Dec 2020
Topic Review
Glucose-6-Phosphate Dehydrogenase Deficiency
Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that occurs almost exclusively in males.
  • 907
  • 23 Dec 2020
Topic Review
Loeys-Dietz Syndrome
Loeys-Dietz syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, and blood vessels.
  • 907
  • 24 Dec 2020
Topic Review
TGFB1 Gene
transforming growth factor beta 1
  • 907
  • 25 Dec 2020
Topic Review
Genome Editing Tools
Genome editing technology is a flexible engineering tool for genetic manipulation of microorganisms including fungi.
  • 907
  • 13 Apr 2021
Topic Review
H19
H19, imprinted maternally expressed transcript
  • 906
  • 22 Dec 2020
Topic Review
Lesch-Nyhan Syndrome
Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. It is characterized by neurological and behavioral abnormalities and the overproduction of uric acid. Uric acid is a waste product of normal chemical processes and is found in blood and urine.
  • 906
  • 24 Dec 2020
Topic Review
XDH Gene
Xanthine dehydrogenase
  • 906
  • 24 Dec 2020
Topic Review
FTL Gene
Ferritin light chain
  • 906
  • 25 Dec 2020
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