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Topic Review
Combined Pituitary Hormone Deficiency
Combined pituitary hormone deficiency is a condition that causes a shortage (deficiency) of several hormones produced by the pituitary gland, which is located at the base of the brain. A lack of these hormones may affect the development of many parts of the body. The first signs of this condition include a failure to grow at the expected rate and short stature that usually becomes apparent in early childhood.
  • 914
  • 24 Dec 2020
Topic Review
DSPP Gene
Dentin Sialophosphoprotein: The DSPP gene provides instructions for making a protein called dentin sialophosphoprotein. 
  • 914
  • 24 Dec 2020
Topic Review
AIRE Gene
autoimmune regulator
  • 914
  • 24 Dec 2020
Topic Review
Expression and Regulation of INPP5D in  Alzheimer’s Disease
Alzheimer’s disease (AD) is the most common form of dementia, accounting for approximately 38.5 million cases of all-cause dementia. Microglial cells, the innate immune cells of the central nervous system (CNS), have long been established as guardians of the brain by providing neuroprotection and maintaining cellular homeostasis. A protein with a myriad of effects on various important signaling pathways that is expressed in microglia is the Src Homology 2 (SH2) domain-containing Inositol 5′ Phosphatase 1 (SHIP1) protein. Encoded by the INPP5D (Inositol Polyphosphate-5-Phosphatase D) gene, SHIP1 has diminutive effects on most microglia signaling processes. Polymorphisms of the INPP5D gene have been found to be associated with a significantly increased risk of AD.
  • 914
  • 09 Oct 2023
Topic Review
EIF2AK4 Gene
Eukaryotic translation initiation factor 2 alpha kinase 4
  • 913
  • 25 Dec 2020
Topic Review
POGLUT1 Gene
protein O-glucosyltransferase 1
  • 913
  • 25 Dec 2020
Topic Review
Genome Editing Tools
Genome editing technology is a flexible engineering tool for genetic manipulation of microorganisms including fungi.
  • 913
  • 13 Apr 2021
Topic Review
H19
H19, imprinted maternally expressed transcript
  • 912
  • 22 Dec 2020
Topic Review
Tetrasomy 18p
Tetrasomy 18p is a chromosomal condition that affects many parts of the body. This condition usually causes feeding difficulties in infancy, delayed development, intellectual disability that is often mild to moderate but can be severe, changes in muscle tone, distinctive facial features, and other birth defects. However, the signs and symptoms vary among affected individuals.  
  • 912
  • 23 Dec 2020
Topic Review
XDH Gene
Xanthine dehydrogenase
  • 912
  • 24 Dec 2020
Topic Review
TGFB1 Gene
transforming growth factor beta 1
  • 912
  • 25 Dec 2020
Topic Review
TGFBR1 Gene
transforming growth factor beta receptor 1
  • 912
  • 25 Dec 2020
Topic Review
Sick Sinus Syndrome
Sick sinus syndrome (also known as sinus node dysfunction) is a group of related heart conditions that can affect how the heart beats.
  • 912
  • 25 Dec 2020
Topic Review
PMS2 Gene
PMS1 homolog 2, mismatch repair system component
  • 912
  • 25 Dec 2020
Topic Review
NBN Gene
nibrin
  • 911
  • 23 Dec 2020
Topic Review
Coats Plus Syndrome
Coats plus syndrome is an inherited condition characterized by an eye disorder called Coats disease plus abnormalities of the brain, bones, gastrointestinal system, and other parts of the body.
  • 911
  • 24 Dec 2020
Topic Review
Prescription Opioid Misuse
Prescription opioids are used for some chronic pain conditions. However, generally, long-term therapy has unwanted side effects which may trigger addiction, overdose, and eventually cause deaths. Opioid addiction and chronic pain conditions have both been associated with evidence of genetic and epigenetic alterations. Despite intense research interest, many questions about the contribution of epigenetic changes to this typology of addiction vulnerability and development remain unanswered.
  • 911
  • 06 Sep 2021
Topic Review
IGF2 Gene
Insulin like growth factor 2
  • 910
  • 23 Dec 2020
Topic Review
Lesch-Nyhan Syndrome
Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. It is characterized by neurological and behavioral abnormalities and the overproduction of uric acid. Uric acid is a waste product of normal chemical processes and is found in blood and urine.
  • 910
  • 24 Dec 2020
Topic Review
Parkes Weber Syndrome
Parkes Weber syndrome is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood back to the heart; and capillaries, which are tiny blood vessels that connect arteries and veins.
  • 910
  • 24 Dec 2020
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