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Topic Review
SLC29A3 Gene
solute carrier family 29 member 3
  • 702
  • 24 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. 
  • 702
  • 25 Dec 2020
Topic Review
Non-Specific Lipid Transfer Proteins (nsLTPs)
Non-specific lipid transfer proteins (nsLTPs) stand out among plant-specific peptide superfamilies due to their multifaceted roles in plant molecular physiology and development, including their protective functions against pathogens. These antimicrobial agents have demonstrated remarkable efficacy against bacterial and fungal pathogens. The discovery of plant-originated, cysteine-rich antimicrobial peptides such as nsLTPs has paved the way for exploring the mentioned organisms as potential biofactories for synthesizing antimicrobial compounds.
  • 701
  • 25 May 2023
Topic Review
McLeod Neuroacanthocytosis Syndrome
McLeod neuroacanthocytosis syndrome is primarily a neurological disorder that occurs almost exclusively in boys and men.
  • 700
  • 23 Dec 2020
Topic Review
Kawasaki Disease
Kawasaki disease is a sudden and time-limited (acute) illness that affects infants and young children.
  • 700
  • 23 Dec 2020
Topic Review
Legg-Calvé-Perthes Disease
Legg-Calvé-Perthes disease is a bone disorder that affects the hips. Usually, only one hip is involved, but in about 10 percent of cases, both hips are affected. Legg-Calvé-Perthes disease begins in childhood, typically between ages 4 and 8, and affects boys more frequently than girls.
  • 700
  • 23 Dec 2020
Topic Review
COL11A2 Gene
collagen type XI alpha 2 chain
  • 700
  • 24 Dec 2020
Topic Review
ETHE1 Gene
ETHE1, persulfide dioxygenase
  • 700
  • 24 Dec 2020
Topic Review
Early-onset Primary Dystonia
Early-onset primary dystonia is a condition characterized by progressive problems with movement, typically beginning in childhood. Dystonia is a movement disorder that involves involuntary tensing of the muscles (muscle contractions), twisting of specific body parts such as an arm or a leg, rhythmic shaking (tremors), and other uncontrolled movements. A primary dystonia is one that occurs without other neurological symptoms, such as seizures or a loss of intellectual function (dementia). Early-onset primary dystonia does not affect a person's intelligence.
  • 700
  • 25 Dec 2020
Topic Review
ANK2
Ankyrin-B, also known as Ankyrin-2, is a protein which in humans is encoded by the ANK2 gene. Ankyrin-B is ubiquitously expressed, but shows high expression in cardiac muscle. Ankyrin-B plays an essential role in the localization and membrane stabilization of ion transporters and ion channels in cardiomyocytes, as well as in costamere structures. Mutations in ankyrin-B cause a dominantly-inherited, cardiac arrhythmia syndrome known as ankyrin-B syndrome as well as sick sinus syndrome; mutations have also been associated to a lesser degree with hypertrophic cardiomyopathy. Alterations in ankyrin-B expression levels are observed in human heart failure.
  • 700
  • 08 Nov 2022
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.
  • 699
  • 23 Dec 2020
Topic Review
JUP Gene
Junction plakoglobin
  • 699
  • 23 Dec 2020
Topic Review
RAG1 Gene
recombination activating 1
  • 699
  • 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.
  • 699
  • 24 Dec 2020
Topic Review
Chanarin-Dorfman Syndrome
Chanarin-Dorfman syndrome is a condition in which fats (lipids) are stored abnormally in the body. The signs and symptoms vary greatly among individuals with Chanarin-Dorfman syndrome. Some people may have ichthyosis only, while others may have problems affecting many areas of the body.
  • 699
  • 24 Dec 2020
Topic Review
SOX10 Gene
SRY-box 10
  • 699
  • 24 Dec 2020
Topic Review
HNF1B Gene
HNF1 homeobox B
  • 698
  • 23 Dec 2020
Topic Review
Opitz G/BBB Syndrome
Opitz G/BBB syndrome is a genetic condition that causes several abnormalities along the midline of the body. "G/BBB" represents the first letters of the last names of the families first diagnosed with this disorder and "Opitz" is the last name of the doctor who first described the signs and symptoms. There are two forms of Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome and autosomal dominant Opitz G/BBB syndrome. The two forms are distinguished by their genetic causes and patterns of inheritance. The signs and symptoms of the two forms are generally the same.
  • 698
  • 24 Dec 2020
Topic Review
Beta-Ketothiolase Deficiency
Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This disorder also impairs the body's ability to process ketones, which are molecules produced during the breakdown of fats.
  • 698
  • 24 Dec 2020
Topic Review
CEP290 Gene
centrosomal protein 290
  • 698
  • 24 Dec 2020
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