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Topic Review
Oculopharyngeal Muscular Dystrophy
Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically after age 40.
  • 791
  • 24 Dec 2020
Topic Review
BUB1B Gene
BUB1 mitotic checkpoint serine/threonine kinase B
  • 791
  • 24 Dec 2020
Topic Review
PLAGL1 Gene
PLAG1 like zinc finger 1
  • 791
  • 25 Dec 2020
Topic Review
Complex Transposon Insertion, Novel Cause of Pompe Disease
Pompe disease (OMIM#232300) is an autosomal recessive lysosomal storage disorder caused by mutations in the GAA gene. According to public mutation databases, more than 679 pathogenic variants have been described in GAA, none of which are associated with mobile genetic elements. In this article, we report a novel molecular genetic cause of Pompe disease, which could be hardly detected using routine molecular genetic analysis. Whole genome sequencing followed by comprehensive functional analysis allowed us to discover and characterize a complex mobile genetic element insertion deep in the intron 15 of the GAA gene in a patient with infantile onset Pompe disease.
  • 790
  • 28 Oct 2021
Topic Review
Isolated HyperCKemia
Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood.
  • 789
  • 23 Dec 2020
Topic Review
SUMF1 Gene
Sulfatase modifying factor 1: The SUMF1 gene provides instructions for making an enzyme called formylglycine-generating enzyme (FGE). 
  • 789
  • 24 Dec 2020
Topic Review
Paget Disease of Bone
Paget disease of bone is a disorder that causes bones to grow larger and weaker than normal. Affected bones may be misshapen and easily broken (fractured).
  • 789
  • 24 Dec 2020
Topic Review
NOTCH1 Gene
notch 1
  • 789
  • 24 Dec 2020
Topic Review
Propionic Acidemia
Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems.
  • 789
  • 24 Dec 2020
Topic Review
TNFRSF11B Gene
TNF receptor superfamily member 11b: The TNFRSF11B gene provides instructions for making a protein called osteoprotegerin.
  • 789
  • 25 Dec 2020
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).
  • 789
  • 15 Jun 2021
Topic Review
EPM2A Gene
EPM2A, laforin glucan phosphatase
  • 789
  • 24 Dec 2020
Topic Review
In Utero Origins of Acute Leukemia in Children
Acute leukemias, mainly consisting of acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML), comprise a major diagnostic group among hematologic cancers. Due to the early age at onset of ALL, particularly, it has long been suspected that acute leukemias of childhood may have an in utero origin. 
  • 789
  • 23 Feb 2024
Topic Review
MYOC Gene
myocilin
  • 788
  • 23 Dec 2020
Topic Review
Imerslund-Gräsbeck Syndrome
Imerslund-Gräsbeck syndrome is a condition caused by low levels of vitamin B12 (also known as cobalamin).
  • 788
  • 23 Dec 2020
Topic Review
Catecholaminergic Polymorphic Ventricular Tachycardia
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition characterized by an abnormal heart rhythm (arrhythmia).
  • 788
  • 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.
  • 788
  • 24 Dec 2020
Topic Review
Phosphoglycerate Kinase Deficiency
Phosphoglycerate kinase deficiency is a genetic disorder that affects the body's ability to break down the simple sugar glucose, which is the primary energy source for most cells. Researchers have described two major forms of the condition.
  • 788
  • 24 Dec 2020
Topic Review
Sperm DNA Oxidation
Sperm DNA Oxidation has destructive effects on sperm structures and functions, thus can result in male infertility. The particular composition of the sperm membrane, rich in polyunsaturated fatty acids, and the easy access of sperm DNA to oxidative damage due to sperm cell specific cytologic and metabolic features (no cytoplasm left and cells unable to mount stress responses) make it the cell type in metazoans most susceptible to oxidative damage. In particular, oxidative damage to the spermatozoa genome is an important issue and a cause of male infertility, usually associated with single- or double-strand paternal DNA breaks.
  • 788
  • 27 Jan 2021
Topic Review
ATL1 Gene
atlastin GTPase 1. The ATL1 gene provides instructions for producing a protein called atlastin-1. 
  • 788
  • 24 Dec 2020
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