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Topic Review
Lymphangioleiomyomatosis
Lymphangioleiomyomatosis (LAM) is a condition that affects the lungs, the kidneys, and the lymphatic system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body.
  • 923
  • 24 Dec 2020
Topic Review
REN-related Kidney Disease
REN-related kidney disease is an inherited condition that affects kidney function.
  • 923
  • 24 Dec 2020
Topic Review
FTCD Gene
Formimidoyltransferase cyclodeaminase
  • 923
  • 25 Dec 2020
Topic Review
DPYS Gene
Dihydropyrimidinase
  • 923
  • 04 Jan 2021
Topic Review
Gillespie Syndrome
Gillespie syndrome is a disorder that involves eye abnormalities, weak muscle tone from birth (congenital hypotonia), problems with balance and coordinating movements (ataxia), and mild to moderate intellectual disability.
  • 922
  • 23 Dec 2020
Topic Review
DRD5 Gene
Dopamine Receptor D5
  • 922
  • 24 Dec 2020
Topic Review
FH Gene
Fumarate hydratase
  • 922
  • 25 Dec 2020
Topic Review
Craniofacial Phenotypes and Genetics of DiGeorge Syndrome
TBX1, located on chromosome 22q11.21, encodes a T-box transcription factor and is a candidate gene for DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). Studies of Tbx1-mutant mice have provided insights into the underlying pathogenesis of DGS/VCFS and the knowledge to diagnose patients with DGS/VCFS. Genes, miRNAs, and epigenetics could change Tbx1 expression. Polymorphisms, variations, and mutations in TBX1 may induce the penetrance and severity of DGS/VCFS-like craniofacial phenotypes. The molecular basis of the variant sequence of TBX1 will further define how TBX1 contributes to the craniofacial and other phenotypes of DGS/VCFS. Since interactions with TBX1 and other molecules in transcriptional complexes or chromatin remodeling are crucial for TBX1 function, identifying and understanding these genetic and epigenetic modifiers individually for each patient may direct therapeutics to minimize the severity.
  • 922
  • 27 May 2022
Topic Review
UGT1A1 Gene
UDP glucuronosyltransferase family 1 member A1.
  • 921
  • 23 Dec 2020
Topic Review
Restless Legs Syndrome
Restless legs syndrome is a neurological condition that causes an irresistible urge to move the legs. The movement is triggered by strange or uncomfortable feelings, often described as crawling, pulling, or itching, deep within both legs. The feelings usually occur while the affected person is sitting or lying down and are worse at night. Movement, such as kicking, stretching, rubbing, or pacing, make the discomfort go away, at least temporarily. The unpleasant feelings and the resulting need to move the legs often make it difficult for an affected person to fall asleep or stay asleep.
  • 921
  • 04 Jan 2021
Topic Review
Lateral Meningocele Syndrome
Lateral meningocele syndrome is a disorder that affects the nervous system, the bones and muscles, and other body systems. The condition is characterized by abnormalities known as lateral meningoceles. Lateral meningoceles are protrusions of the membranes surrounding the spinal cord (known as the meninges) through gaps in the bones of the spine (vertebrae). The protrusions are most common and typically larger in the lower spine.
  • 920
  • 23 Dec 2020
Topic Review
DHCR7 Gene
7-Dehydrocholesterol Reductase: The DHCR7 gene provides instructions for making an enzyme called 7-dehydrocholesterol reductase. 
  • 920
  • 24 Dec 2020
Topic Review
Lowe Syndrome
Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males.
  • 919
  • 24 Dec 2020
Topic Review
BDNF Gene
brain derived neurotrophic factor
  • 919
  • 24 Dec 2020
Topic Review
CHRNB2 Gene
cholinergic receptor nicotinic beta 2 subunit
  • 919
  • 24 Dec 2020
Topic Review
Familial Porencephaly
Familial porencephaly is part of a group of conditions called the COL4A1-related disorders.
  • 919
  • 25 Dec 2020
Topic Review
CHMP2B-Related Frontotemporal Dementia
CHMP2B-related frontotemporal dementia is a progressive brain disorder that affects personality, behavior, and language. The symptoms of this disorder usually become noticeable in a person's fifties or sixties, and affected people survive about 3 to 21 years after the appearance of symptoms.
  • 918
  • 24 Dec 2020
Topic Review
Sialidosis
Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features.
  • 918
  • 25 Dec 2020
Topic Review
MMACHC Gene
metabolism of cobalamin associated C
  • 917
  • 22 Dec 2020
Topic Review
XPC Gene
XPC complex subunit, DNA damage recognition and repair factor: the XPC gene provides instructions for making a protein that is involved in repairing damaged DNA. 
  • 917
  • 24 Dec 2020
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