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Topic Review
GRACILE Syndrome
GRACILE syndrome is a severe disorder that begins before birth. GRACILE stands for the condition's characteristic features: growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death.
  • 766
  • 23 Dec 2020
Topic Review
TTPA Gene
Alpha tocopherol transfer protein.
  • 766
  • 23 Dec 2020
Topic Review
ZNF341 Gene
Zinc finger protein 341
  • 766
  • 24 Dec 2020
Topic Review
Congenital Nephrotic Syndrome
Congenital nephrotic syndrome is a kidney condition that begins in infancy and typically leads to irreversible kidney failure (end-stage renal disease) by early childhood. Children with congenital nephrotic syndrome begin to have symptoms of the condition between birth and 3 months.
  • 766
  • 24 Dec 2020
Topic Review
CNGB3 Gene
cyclic nucleotide gated channel beta 3
  • 766
  • 19 Apr 2021
Topic Review
Factors Debilitating Mitochondrial Function
Alzheimer’s disease (AD) is the most frequent cause of age-related neurodegeneration and cognitive impairment, and there are currently no broadly effective therapies. The underlying pathogenesis is complex, but a growing body of evidence implicates mitochondrial dysfunction as a common pathomechanism involved in many of the hallmark features of the AD brain, such as the formation of amyloid-beta (Aβ) aggregates (amyloid plaques), neurofibrillary tangles, cholinergic system dysfunction, impaired synaptic transmission and plasticity, oxidative stress, and neuroinflammation, that lead to neurodegeneration and cognitive dysfunction. Indeed, mitochondrial dysfunction concomitant with progressive accumulation of mitochondrial Aβ is an early event in AD pathogenesis. Healthy mitochondria are critical for providing sufficient energy to maintain endogenous neuroprotective and reparative mechanisms, while disturbances in mitochondrial function, motility, fission, and fusion lead to neuronal malfunction and degeneration associated with excess free radical production and reduced intracellular calcium buffering. In addition, mitochondrial dysfunction can contribute to amyloid-β precursor protein (APP) expression and misprocessing to produce pathogenic fragments (e.g., Aβ1-40).
  • 766
  • 15 Jun 2021
Topic Review
NcRNAs in Cardiac Action Potential
microRNAs represent the most studied type of small ncRNAs and it has been demonstrated that miRNAs play essential roles in multiple biological contexts, including normal development and diseases. Cardiac arrhythmias are prevalent among humans across all age ranges, affecting millions of people worldwide. While cardiac arrhythmias vary widely in their clinical presentation, they possess shared complex electrophysiologic properties at cellular level that have not been fully studied. 
  • 766
  • 15 Sep 2021
Topic Review
TAP2 Gene
Transporter 2, ATP binding cassette subfamily B member: The TAP2 gene provides instructions for making a protein that plays an important role in the immune system. 
  • 765
  • 24 Dec 2020
Topic Review
SIX1 Gene
SIX homeobox 1
  • 765
  • 24 Dec 2020
Topic Review
F5 Gene
Coagulation factor V
  • 765
  • 24 Dec 2020
Topic Review
Waldenström macroglobulinemia
Waldenström macroglobulinemia is a rare blood cell cancer characterized by an excess of abnormal white blood cells called lymphoplasmacytic cells in the bone marrow. This condition is classified as a lymphoplasmacytic lymphoma. The abnormal cells have characteristics of both white blood cells (lymphocytes) called B cells and of more mature cells derived from B cells known as plasma cells. These abnormal cells produce excess amounts of IgM, a type of protein known as an immunoglobulin; the overproduction of this large protein is how the condition got its name ("macroglobulinemia").  
  • 764
  • 23 Dec 2020
Topic Review
BCS1L Gene
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
  • 764
  • 24 Dec 2020
Topic Review
Dupuytren Contracture
Dupuytren contracture is characterized by a deformity of the hand in which the joints of one or more fingers cannot be fully straightened (extended); their mobility is limited to a range of bent (flexed) positions. The condition is a disorder of connective tissue, which supports the body's muscles, joints, organs, and skin and provides strength and flexibility to structures throughout the body. In particular, Dupuytren contracture results from shortening and thickening of connective tissues in the hand, including fat and bands of fibrous tissue called fascia; the skin is also involved.
  • 764
  • 24 Dec 2020
Topic Review
Reproductive Journey in Genomic Era
The aim of this entry is to assess the new horizon opened by technologies such as next-generation sequencing (NGS), in new strategies, as a genomic precision diagnostic tool to understand the mechanisms underlying genetic conditions during the “reproductive journey”.
  • 764
  • 29 Dec 2020
Topic Review
SRD5A2 Gene
Steroid 5 alpha-reductase 2: The SRD5A2 gene provides instructions for making an enzyme called steroid 5-alpha reductase 2. 
  • 763
  • 22 Dec 2020
Topic Review
Idiopathic Inflammatory Myopathy
Idiopathic inflammatory myopathy is a group of disorders characterized by inflammation of the muscles used for movement (skeletal muscles).
  • 763
  • 23 Dec 2020
Topic Review
RGS9 Gene
regulator of G protein signaling 9
  • 763
  • 24 Dec 2020
Topic Review
Autosomal Dominant Vitreoretinochoroidopathy
Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a disorder that affects several parts of the eyes, including the clear gel that fills the eye (the vitreous), the light-sensitive tissue that lines the back of the eye (the retina), and the network of blood vessels within the retina (the choroid). The eye abnormalities in ADVIRC can lead to varying degrees of vision impairment, from mild reduction to complete loss, although some people with the condition have normal vision.
  • 763
  • 24 Dec 2020
Topic Review
Rett Syndrome
Rett syndrome is a brain disorder that occurs almost exclusively in girls. The most common form of the condition is known as classic Rett syndrome.
  • 763
  • 24 Dec 2020
Topic Review
FOXL2 Gene
Forkhead box L2
  • 763
  • 25 Dec 2020
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