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Topic Review
Glutaric Acidemia Type II
Glutaric acidemia type II is an inherited disorder that interferes with the body's ability to break down proteins and fats to produce energy. Incompletely processed proteins and fats can build up in the body and cause the blood and tissues to become too acidic (metabolic acidosis).
  • 665
  • 23 Dec 2020
Topic Review
UCHL1 Gene
Ubiquitin C-terminal hydrolase L1.
  • 665
  • 23 Dec 2020
Topic Review
Mitochondrial Complex I Deficiency
Mitochondrial complex I deficiency is a shortage (deficiency) of a protein complex called complex I or a loss of its function. Complex I is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. Complex I is the first of five mitochondrial complexes that carry out a multi-step process called oxidative phosphorylation, through which cells derive much of their energy.
  • 665
  • 23 Dec 2020
Topic Review
IRAK-4 Deficiency
IRAK-4 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This immunodeficiency leads to recurrent infections by a subset of bacteria known as pyogenic bacteria but not by other infectious agents. (Infection with pyogenic bacteria causes the production of pus.)
  • 665
  • 23 Dec 2020
Topic Review
RAB3GAP1 Gene
RAB3 GTPase activating protein catalytic subunit 1
  • 665
  • 23 Dec 2020
Topic Review
RMRP Gene
RNA component of mitochondrial RNA processing endoribonuclease
  • 665
  • 24 Dec 2020
Topic Review
SLC4A1-Associated Distal Renal Tubular Acidosis
SLC4A1-associated distal renal tubular acidosis is a kidney (renal) disorder that sometimes includes blood cell abnormalities.
  • 664
  • 24 Dec 2020
Topic Review
PRPH2 Gene
peripherin 2
  • 663
  • 22 Dec 2020
Topic Review
Glanzmann Thrombasthenia
Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth.
  • 663
  • 23 Dec 2020
Topic Review
CYP2C9 Gene
Cytochrome P450 Family 2 Subfamily C Member 9
  • 663
  • 23 Dec 2020
Topic Review
DCXR Gene
Dicarbonyl and L-Xylulose Reductase: The DCXR gene provides instructions for making a protein called dicarbonyl and L-xylulose reductase (DCXR), which plays multiple roles in the body. 
  • 663
  • 23 Dec 2020
Topic Review
DHCR24 Gene
24-Dehydrocholesterol Reductase
  • 663
  • 24 Dec 2020
Topic Review
Congenital Fiber-Type Disproportion
Congenital fiber-type disproportion is a condition that primarily affects skeletal muscles, which are muscles used for movement.
  • 663
  • 24 Dec 2020
Topic Review
CRISPR/Cas9-Mediated Gene Editing System
The natural CRISPR-Cas9 system are composed of Cas9, crRNA, and tracrRNA. The artificial CRISPR/Cas9 system usually consists of two components: the Cas9 endonuclease and the sgRNA, which form the ribonucleoprotein complex via base pairing to mediate the gene editing. 
  • 663
  • 11 Jan 2024
Topic Review
MECP2 Gene
methyl-CpG binding protein 2
  • 662
  • 22 Dec 2020
Topic Review
Subcellular Localization of the Asp/ASPM Proteins
Investigations on different cell types showed that Asp (Drosophila abnormal spindle)/Aspm/ASPM (Abnormal Spindle-like Microcephaly-associated; or MCPH5) depletion disrupts one or more of the following mitotic processes: aster formation, spindle pole focusing, centrosome-spindle coupling, spindle orientation, metaphase-to-anaphase progression, chromosome segregation, and cytokinesis.
  • 662
  • 31 Mar 2023
Topic Review
DOCK8 Gene
Dedicator of Cytokinesis 8
  • 661
  • 24 Dec 2020
Topic Review
Palmoplantar Keratoderma with Deafness
Palmoplantar keratoderma with deafness is a disorder characterized by skin abnormalities and hearing loss.
  • 661
  • 24 Dec 2020
Topic Review
LARGE1 Gene
LARGE xylosyl- and glucuronyltransferase 1
  • 660
  • 23 Dec 2020
Topic Review
LHCGR Gene
Luteinizing hormone/choriogonadotropin receptor
  • 660
  • 23 Dec 2020
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