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Topic Review
F9 Gene
Coagulation Factor IX: The F9 gene provides instructions for making a protein called coagulation factor IX. 
  • 755
  • 25 Dec 2020
Topic Review
Familial Pityriasis Rubra Pilaris
Familial pityriasis rubra pilaris is a rare genetic condition that affects the skin. The name of the condition reflects its major features: The term "pityriasis" refers to scaling; "rubra" means redness; and "pilaris" suggests the involvement of hair follicles in this disorder. Affected individuals have a salmon-colored skin rash covered in fine scales. This rash occurs in patches all over the body, with distinct areas of unaffected skin between the patches. Affected individuals also develop bumps called follicular keratoses that occur around hair follicles. The skin on the palms of the hands and soles of the feet often becomes thick, hard, and callused, a condition known as palmoplantar keratoderma.
  • 755
  • 25 Dec 2020
Topic Review
Null cyp1b1 Activity in Zebrafish
CYP1B1 is a cytochrome P450 monooxygenase involved in oxidative metabolism of different endogenous lipids and drugs. The loss of function (LoF) of this gene underlies many cases of recessive primary congenital glaucoma (PCG), an infrequent disease and a common cause of infantile loss of vision in children. CYP1B1 loss of function (LoF) is the main known genetic alteration present in recessive primary congenital glaucoma (PCG), an infrequent disease characterized by delayed embryonic development of the ocular iridocorneal angle; however, the underlying molecular mechanisms are poorly understood.
  • 755
  • 04 Aug 2021
Topic Review
MBD5 Gene
Methyl-CpG binding domain protein 5
  • 754
  • 23 Dec 2020
Topic Review
Arterial Tortuosity Syndrome
Arterial tortuosity syndrome is a disorder that affects connective tissue. Connective tissue provides strength and flexibility to structures throughout the body, including blood vessels, skin, joints, and the gastrointestinal tract.
  • 754
  • 24 Dec 2020
Topic Review
BTD Gene
biotinidase
  • 754
  • 24 Dec 2020
Topic Review
EHMT1 Gene
Euchromatic histone lysine methyltransferase 1: The EHMT1 gene provides instructions for making an enzyme called euchromatic histone methyltransferase 1. 
  • 754
  • 24 Dec 2020
Topic Review
FERMT1 Gene
Fermitin family member 1
  • 754
  • 25 Dec 2020
Topic Review
Eosinophil Peroxidase Deficiency
Eosinophil peroxidase deficiency is a condition that affects certain white blood cells called eosinophils but causes no health problems in affected individuals. Eosinophils aid in the body's immune response.
  • 754
  • 25 Dec 2020
Topic Review
ELOVL2-Based Epigenetic Clock for Forensic Age Prediction
The prediction of chronological age from methylation-based biomarkers represents one of the most promising applications in the field of forensic sciences. Age-prediction models developed are not easily applicable for forensic caseworkers. Among the several attempts to pursue this objective, the formulation of single-locus models might represent a good strategy.
  • 754
  • 09 Feb 2023
Topic Review
SIDDT
Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a rare condition that is fatal in the first year of life; its major features include abnormalities of the reproductive system in males, feeding difficulties, and breathing problems.  
  • 753
  • 23 Dec 2020
Topic Review
LRP2 Gene
LDL receptor related protein 2
  • 752
  • 23 Dec 2020
Topic Review
Centronuclear Myopathy
Centronuclear myopathy is a condition characterized by muscle weakness (myopathy) and wasting (atrophy) in the skeletal muscles, which are the muscles used for movement. The severity of centronuclear myopathy varies among affected individuals, even among members of the same family.
  • 752
  • 24 Dec 2020
Topic Review
Arginase Deficiency
Arginase deficiency is an inherited disorder that causes the amino acid arginine (a building block of proteins) and ammonia to accumulate gradually in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.
  • 752
  • 24 Dec 2020
Topic Review
FGF10 Gene
Fibroblast growth factor 10: The FGF10 gene provides instructions for making a protein called fibroblast growth factor 10 (FGF10). 
  • 752
  • 25 Dec 2020
Topic Review
TFAP2A Gene
Transcription factor AP-2 alpha: The TFAP2A gene provides instructions for making a protein called transcription factor AP-2 alpha (AP-2α). 
  • 752
  • 25 Dec 2020
Topic Review
UBE3A Gene
Ubiquitin protein ligase E3A.
  • 752
  • 23 Dec 2020
Topic Review
KRT10 Gene
Keratin 10
  • 752
  • 23 Dec 2020
Topic Review
UBA1 Gene
Ubiquitin like modifier activating enzyme 1.
  • 751
  • 23 Dec 2020
Topic Review
KDM6A Gene
Lysine demethylase 6A
  • 751
  • 23 Dec 2020
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