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Topic Review
Tau Oligomers Neurotoxicity
Although the mechanisms of toxic activity of tau are not fully recognized, it is supposed that the tau toxicity is related rather not to insoluble tau aggregates but to its intermediate forms. It seems that neurofibrillar tangles (NFTs) themselves, despite being composed of toxic tau, are probably neither necessary nor sufficient for tau-induced neuronal dysfunction and toxicity. Tau oligomers (TauOs) formed during the early stages of tau aggregation are the pathological forms that play a key role in eliciting the loss of neurons and behavioral impairments in several neurodegenerative disorders called tauopathies. They can be found in tauopathic diseases, the most common of which is Alzheimer’s disease (AD). Evidence of co-occurrence of b-amyloid, α-synuclein, and tau into their most toxic forms, i.e., oligomers, suggests that these species interact and influence each other’s aggregation in several tauopathies. The mechanism responsible for oligomeric tau neurotoxicity is a subject of intensive investigation.
  • 1.1K
  • 21 Jan 2021
Topic Review
Marfan Syndrome
Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression.
  • 1.1K
  • 23 Dec 2020
Topic Review
Acatalasemia
Acatalasemia is a condition characterized by very low levels of an enzyme called catalase. Many people with acatalasemia never have any health problems related to the condition and are diagnosed because they have affected family members.
  • 1.1K
  • 04 Feb 2021
Topic Review
SOD1 Gene
Superoxide dismutase 1
  • 1.1K
  • 04 Jan 2021
Topic Review
adCSNB
Autosomal dominant congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color.
  • 1.1K
  • 04 Jan 2021
Topic Review
TERT Expression Regulation by Epigenetics
Maintenance of telomeres is a fundamental step in human carcinogenesis and is primarily regulated by telomerase and the human telomerase reverse transcriptase gene (TERT). Improved understanding of the transcriptional control of this gene may provide potential therapeutic targets. Epigenetic modifications are a prominent mechanism to control telomerase activity and regulation of the TERT gene. 
  • 1.1K
  • 29 Apr 2021
Topic Review
KRAS Mutation in PDAC
The vast majority of patients with pancreatic ductal adenocarcinomas harbor KRAS mutations in their tumors. Functionally, mutated KRAS is not only dedicated to tumor cell proliferation, survival and invasiveness, but also causing the immunosuppression in this cancer. 
  • 1.1K
  • 23 Jun 2021
Topic Review
Dehydrin Genes in Model Brachypodium Grasses
Dehydration proteins (dehydrins, DHNs) confer tolerance to water-stress deficit in plants. We performed a comparative genomics and evolutionary study of DHN genes in four model Brachypodium grass species. Ten dehydrins have been describe within Brachypodium species. Due to limited knowledge on dehydrin expression under water deprivation stress in Brachypodium, we also performed a drought-induced gene expression analysis in 32 ecotypes of the genus’ flagship species B. distachyon showing different hydric requirements. Bdhn1 - Bdhn2, Bdhn3 and Bdhn7 genes, orthologs of wheat, barley, rice, sorghum, and maize genes, were more highly expressed in plants under drought conditions.
  • 1.1K
  • 13 Dec 2021
Topic Review
Rigid Spine Muscular Dystrophy
Rigid spine muscular dystrophy (RSMD) is a form of congenital muscular dystrophy. Disorders in this group cause muscle weakness and wasting (atrophy) beginning very early in life. In particular, RSMD involves weakness of the muscles of the torso and neck (axial muscles). Other characteristic features include spine stiffness and serious breathing problems
  • 1.1K
  • 24 Dec 2020
Topic Review
TK2 Gene
Thymidine kinase 2, mitochondrial: The TK2 gene provides instructions for making an enzyme called thymidine kinase 2 that functions within cell structures called mitochondria, which are found in all tissues.
  • 1.1K
  • 25 Dec 2020
Topic Review
15q24 Microdeletion
15q24 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q24.
  • 1.1K
  • 26 Aug 2021
Topic Review
Distal Myopathy 2
Distal myopathy 2 is a condition characterized by weakness of specific muscles that begins in adulthood. It is a form of muscular dystrophy that specifically involves muscles in the throat, lower legs, and forearms. Muscles farther from the center of the body, like the muscles of the lower legs and forearms, are known as distal muscles.
  • 1.1K
  • 24 Dec 2020
Topic Review
Engineered Durum Wheat Germplasm
Durum wheat (Triticum durum var. durum, 2n = 4x = 28, AB genomes) is a major staple crop in the Mediterranean Basin, where its cultivation largely replaced that of tetraploid emmer, T. dicoccum, by the first millennium B.C.
  • 1.1K
  • 29 Oct 2020
Topic Review
MYD88 Gene
MYD88, innate immune signal transduction adaptor
  • 1.1K
  • 23 Dec 2020
Topic Review
MC1R Gene
Melanocortin 1 receptor
  • 1.1K
  • 23 Dec 2020
Topic Review
Chromosome 9
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 9, one copy inherited from each parent, form one of the pairs.
  • 1.1K
  • 24 Dec 2020
Topic Review
Genetic Improvement of Drought Tolerance in Conifers
The constant rise in the global temperature and unpredictable shifts in precipitation patterns are two of the main effects of climate change. Conifers originated more than 300 million years ago and currently dominate many temperate and boreal forests.
  • 1.1K
  • 09 Dec 2022
Topic Review
Harlequin Ichthyosis
Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin.
  • 1.1K
  • 23 Dec 2020
Topic Review
Progressive Familial Heart Block
Progressive familial heart block is a genetic condition that alters the normal beating of the heart.
  • 1.1K
  • 24 Dec 2020
Topic Review
Retinitis Pigmentosa
Retinitis pigmentosa is a group of related eye disorders that cause progressive vision loss. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with retinitis pigmentosa, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.
  • 1.1K
  • 04 Jan 2021
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