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Topic Review
Genome Editing in Parkinson’s Disease
Gene editing has recently emerged as an innovative disease-modifying treatment alternative based on editing gene sequences or altering their expression profiles. Gene therapies have the potential to permanently fix the underlying causes of the disease, which is not yet possible for most neurodegenerative diseases. For more than two decades, site-directed genome editing has been possible using various molecules capable of recognizing and cleaving specific DNA sequences, such as zinc-finger nucleases and transcription activator-like effector nucleases (TALENs). Although these techniques represented the beginning of precise genome editing and its incursion into medical treatments, they are costly and challenging due to the complex nuclease design process. A major revolution in genome engineering came with discovering CRISPR/Cas systems and their direct application as gene-editing platforms in mammalian cells.
  • 887
  • 03 Sep 2021
Topic Review
Pol III-Related Leukodystrophy
Pol III-related leukodystrophy is a disorder that affects the nervous system and other parts of the body. Leukodystrophies are conditions that involve abnormalities of the nervous system's white matter, which consists of nerve cells (neurons) covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses.
  • 886
  • 24 Dec 2020
Topic Review
Megalencephalic Leukoencephalopathy with Subcortical Cysts
Megalencephalic leukoencephalopathy with subcortical cysts is a progressive condition that affects brain development and function.
  • 885
  • 23 Dec 2020
Topic Review
KRAS Gene
KRAS proto-oncogene, GTPase
  • 885
  • 23 Dec 2020
Topic Review
Cantú Syndrome
Cantú syndrome is a rare condition characterized by excess hair growth (hypertrichosis), a distinctive facial appearance, heart defects, and several other abnormalities. The features of the disorder vary among affected individuals.
  • 885
  • 24 Dec 2020
Topic Review
FLI1 Gene
Fli-1 proto-oncogene, ETS transcription factor
  • 885
  • 25 Dec 2020
Topic Review
Fatty Acid Hydroxylase-associated Neurodegeneration
Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a progressive disorder of the nervous system (neurodegeneration) characterized by problems with movement and vision that begin during childhood or adolescence.
  • 885
  • 25 Dec 2020
Topic Review
TNFRSF11A Gene
TNF receptor superfamily member 11a: The TNFRSF11A gene provides instructions for making a protein called receptor activator of NF-κB (RANK).
  • 885
  • 25 Dec 2020
Topic Review
CLN6 Disease
CLN6 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between early and late childhood, but sometimes they can appear in adulthood.
  • 884
  • 24 Dec 2020
Topic Review
X-linked Infantile Spinal Muscular Atrophy
X-linked infantile spinal muscular atrophy is a condition that affects only boys and is characterized by severe muscle weakness and absent reflexes (areflexia).
  • 884
  • 24 Dec 2020
Topic Review
FLCN Gene
Folliculin
  • 884
  • 25 Dec 2020
Topic Review
POLG Gene
DNA polymerase gamma, catalytic subunit
  • 884
  • 25 Dec 2020
Topic Review
TNNT3 Gene
Troponin T3, fast skeletal type: The TNNT3 gene provides instructions for making one form of a protein called troponin T.
  • 884
  • 25 Dec 2020
Topic Review
SerpinB10 in UV-Induced Cellular Response
UV-induced DNA damage response and repair are extensively studied processes, as any malfunction in these pathways contributes to the activation of tumorigenesis. Although several proteins involved in these cellular mechanisms have been described, the entire repair cascade has remained unexplored. To identify new players in UV-induced repair, we performed a microarray screen, in which we found SerpinB10 (SPB10, Bomapin) as one of the most dramatically upregulated genes following UV irradiation. Here, we demonstrate that an increased mRNA level of SPB10 is a general cellular response following UV irradiation regardless of the cell type. We show that although SPB10 is implicated in the UV-induced cellular response, it has no indispensable function in cell survival upon UV irradiation. Nonetheless, we reveal that SPB10 might be involved in delaying the duration of DNA repair in interphase and also in S-phase cells. Additionally, we also highlight the interaction between SPB10 and H3. Based on our results, it seems that SPB10 protein is implicated in UV-induced stress as a “quality control protein”, presumably by slowing down the repair process.
  • 884
  • 12 Aug 2021
Topic Review
Hypochondroplasia
Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs. Hypochondroplasia is similar to another skeletal disorder called achondroplasia, but the features tend to be milder.
  • 884
  • 23 Dec 2020
Topic Review
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth.
  • 884
  • 23 Dec 2020
Topic Review
Spastic Paraplegia Type 3A
Spastic paraplegia type 3A is one of a group of genetic disorders known as hereditary spastic paraplegias.
  • 883
  • 23 Dec 2020
Topic Review
Psoriatic Arthritis
Psoriatic arthritis is a condition involving joint inflammation (arthritis) that usually occurs in combination with a skin disorder called psoriasis.
  • 883
  • 24 Dec 2020
Topic Review
FOXP2 Gene
Forkhead box P2
  • 883
  • 25 Dec 2020
Topic Review
PFKM Gene
phosphofructokinase, muscle
  • 883
  • 25 Dec 2020
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