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Topic Review
COQ2 Gene
coenzyme Q2, polyprenyltransferase
  • 729
  • 24 Dec 2020
Topic Review
CtDNA in Colorectal Cancer
Circulating tumor DNA (ctDNA) is tumor-derived fragmented DNA in the bloodstream that was shed from primary and/or metastatic tumors.
  • 729
  • 29 Jun 2021
Topic Review
Hearing Loss Caused by KCNQ1 and KCNQ4 Variants
Deafness-associated genes KCNQ1 (also associated with heart diseases) and KCNQ4 (only associated with hearing loss) encode the homotetrameric voltage-gated potassium ion channels Kv7.1 and Kv7.4, respectively. To date, over 700 KCNQ1 and over 70 KCNQ4 variants have been identified in patients. The vast majority of these variants are inherited dominantly, and their pathogenicity is often explained by dominant-negative inhibition or haploinsufficiency.
  • 729
  • 12 Oct 2022
Topic Review
NPHS2 Gene
NPHS2, podocin
  • 728
  • 24 Dec 2020
Topic Review
CRPPA Gene
CDP-L-ribitol pyrophosphorylase A
  • 728
  • 24 Dec 2020
Topic Review
Familial Dilated Cardiomyopathy
Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.
  • 728
  • 25 Dec 2020
Topic Review
Drought-Adapted Mediterranean Diet Plants
The Mediterranean diet features plant-based foods renowned for their health benefits derived from bioactive compounds.
  • 728
  • 20 Feb 2024
Topic Review
Infantile-Onset Spinocerebellar Ataxia
Infantile-onset spinocerebellar ataxia (IOSCA) is a progressive disorder that affects the nervous system.
  • 727
  • 23 Dec 2020
Topic Review
Schimke Immuno-Osseous Dysplasia
Schimke immuno-osseous dysplasia is a condition characterized by short stature, kidney disease, and a weakened immune system.
  • 727
  • 24 Dec 2020
Topic Review
Early Prenatal Alcohol Exposure
Prenatal alcohol exposure (PAE) is the underlying cause for a variety of birth defects referred to as Fetal Alcohol Spectrum Disorders (FASD).
  • 727
  • 03 Aug 2021
Topic Review
Malignant Hyperthermia
Malignant hyperthermia is a severe reaction to particular anesthetic drugs that are often used during surgery and other invasive procedures.
  • 726
  • 23 Dec 2020
Topic Review
MPZ Gene
myelin protein zero
  • 726
  • 23 Dec 2020
Topic Review
ROR2 Gene
receptor tyrosine kinase like orphan receptor 2
  • 726
  • 24 Dec 2020
Topic Review
DNMT3A Overgrowth Syndrome
DNMT3A overgrowth syndrome is a disorder characterized by faster than normal growth before and after birth, subtle differences in facial features, and intellectual disability.
  • 726
  • 24 Dec 2020
Topic Review
FOXN1 Gene
Forkhead box N1
  • 726
  • 25 Dec 2020
Topic Review
Isolated Congenital Asplenia
Isolated congenital asplenia is a condition in which affected individuals are missing their spleen (asplenia) but have no other developmental abnormalities. While most individuals with this condition have no spleen at all, some people have a very small, nonfunctional spleen (hyposplenism).
  • 725
  • 23 Dec 2020
Topic Review
RUNX1 Gene
runt related transcription factor 1
  • 725
  • 24 Dec 2020
Topic Review
ATP1A3 Gene
ATPase Na+/K+ transporting subunit alpha 3
  • 725
  • 24 Dec 2020
Topic Review
Coffin-Lowry Syndrome
Coffin-Lowry syndrome is a condition that affects many parts of the body. The signs and symptoms are usually more severe in males than in females, although the features of this disorder range from very mild to severe in affected women.
  • 725
  • 24 Dec 2020
Topic Review
Isolated Sulfite Oxidase Deficiency
Isolated sulfite oxidase deficiency (ISOD) is a disorder of the nervous system, with a severe "classic" form that starts in the newborn period and a milder, late-onset form that begins later in infancy or early childhood.
  • 724
  • 23 Dec 2020
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