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Topic Review
Kawasaki Disease
Kawasaki disease is a sudden and time-limited (acute) illness that affects infants and young children.
  • 713
  • 23 Dec 2020
Topic Review
PDGFRA-Associated Chronic Eosinophilic Leukemia
PDGFRA-associated chronic eosinophilic leukemia is a form of blood cell cancer characterized by an elevated number of cells called eosinophils in the blood. These cells help fight infections by certain parasites and are involved in the inflammation associated with allergic reactions. However, these circumstances do not account for the increased number of eosinophils in PDGFRA-associated chronic eosinophilic leukemia.
  • 713
  • 24 Dec 2020
Topic Review
EXT1 Gene
Exostosin glycosyltransferase 1
  • 713
  • 24 Dec 2020
Topic Review
MTOR Gene
mechanistic target of rapamycin kinase
  • 712
  • 23 Dec 2020
Topic Review
FGFR1 Gene
Fibroblast growth factor receptor 1: The FGFR1 gene provides instructions for making a protein called fibroblast growth factor receptor 1. 
  • 712
  • 25 Dec 2020
Topic Review
TUBB4A Gene
Tubulin beta 4A class IVa.
  • 712
  • 23 Dec 2020
Topic Review
Leydig Cell Hypoplasia
Leydig cell hypoplasia is a condition that affects male sexual development. It is characterized by underdevelopment (hypoplasia) of Leydig cells in the testes. Leydig cells secrete male sex hormones (androgens) that are important for normal male sexual development before birth and during puberty.
  • 712
  • 24 Dec 2020
Topic Review
Hereditary Antithrombin Deficiency
Hereditary antithrombin deficiency is a disorder of blood clotting. People with this condition are at higher than average risk for developing abnormal blood clots, particularly a type of clot that occurs in the deep veins of the legs. This type of clot is called a deep vein thrombosis (DVT).
  • 711
  • 23 Dec 2020
Topic Review
Methylmalonic Acidemia
Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly.
  • 711
  • 23 Dec 2020
Topic Review
Neurofibromatosis Type 2
Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system.
  • 711
  • 23 Dec 2020
Topic Review
SDHAF2 Gene
succinate dehydrogenase complex assembly factor 2
  • 711
  • 24 Dec 2020
Topic Review
COL8A2 Gene
collagen type VIII alpha 2 chain
  • 710
  • 24 Dec 2020
Topic Review
Features and Functions of Alternative Exon Splicing Events
Manipulation using alternative exon splicing (AES), alternative transcription start (ATS), and alternative polyadenylation (APA) sites are key to transcript diversity underlying health and disease. All three are pervasive in organisms, present in at least 50% of human protein-coding genes. These RNA variants have been shown to be highly specific, both in tissue type and stage, with demonstrated importance to cell proliferation, differentiation and the transition from fetal to adult cells. While alternative exon splicing has a limited effect on protein identity, its ubiquity highlights the importance of these minor alterations, which can alter other features such as localization.
  • 710
  • 17 Nov 2023
Topic Review
NLRP1 Gene
NLR family pyrin domain containing 1
  • 709
  • 23 Dec 2020
Topic Review
DARS1 Gene
Aspartyl-tRNA Synthetase: The DARS1 gene provides instructions for making an enzyme called aspartyl-tRNA synthetase. 
  • 709
  • 23 Dec 2020
Topic Review
ZIC2 Gene
Zic family member 2
  • 709
  • 24 Dec 2020
Topic Review
Generalized Arterial Calcification of Infancy
Generalized arterial calcification of infancy (GACI) is a disorder affecting the circulatory system that becomes apparent before birth or within the first few months of life.
  • 709
  • 23 Dec 2020
Topic Review
CEP290 Gene
centrosomal protein 290
  • 708
  • 24 Dec 2020
Topic Review
ETHE1 Gene
ETHE1, persulfide dioxygenase
  • 708
  • 24 Dec 2020
Topic Review
MESP2 Gene
mesoderm posterior bHLH transcription factor 2
  • 707
  • 22 Dec 2020
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