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Topic Review
TUBB2B Gene
Tubulin beta 2B class IIb.
  • 897
  • 23 Dec 2020
Topic Review
Mowat-Wilson Syndrome
Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects.
  • 897
  • 23 Dec 2020
Topic Review
Biotinidase Deficiency
Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. If this condition is not recognized and treated, its signs and symptoms typically appear within the first few months of life, although it can also become apparent later in childhood.
  • 897
  • 24 Dec 2020
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.
  • 897
  • 03 Sep 2021
Topic Review
Short QT Syndrome
Short QT syndrome is a condition that can cause a disruption of the heart's normal rhythm (arrhythmia).
  • 897
  • 25 Dec 2020
Topic Review
Complement Component 2 Deficiency
Complement component 2 deficiency is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria and viruses.
  • 896
  • 24 Dec 2020
Topic Review
Frasier Syndrome
Frasier syndrome is a condition that affects the kidneys and genitalia.
  • 896
  • 25 Dec 2020
Topic Review
3-hydroxy-3-methylglutaryl-CoA Lyase Deficiency
3-hydroxy-3-methylglutaryl-CoA lyase deficiency (also known as HMG-CoA lyase deficiency) is an uncommon inherited disorder in which the body cannot process a particular protein building block (amino acid) called leucine. Additionally, the disorder prevents the body from making ketones, which are compounds that are used for energy during periods without food (fasting).
  • 895
  • 23 Dec 2020
Topic Review
SCN4A Gene
sodium voltage-gated channel alpha subunit 4
  • 895
  • 24 Dec 2020
Topic Review
C8B Gene
complement C8 beta chain
  • 895
  • 24 Dec 2020
Topic Review
COL17A1 Gene
collagen type XVII alpha 1 chain
  • 895
  • 24 Dec 2020
Topic Review
TNFRSF13B Gene
TNF receptor superfamily member 13B: The TNFRSF13B gene provides instructions for making a protein called TACI.
  • 895
  • 25 Dec 2020
Topic Review
Drug Resistance of Colon Carcinoma
Drug resistance is one of the major forces driving a poor prognosis during the treatment and progression of human colon carcinomas. The molecular mechanisms that regulate the diverse processes underlying drug resistance are still under debate. MicroRNAs (miRNAs) are a subgroup of non-coding RNAs increasingly found to be associated with the regulation of tumorigenesis and drug resistance.
  • 895
  • 08 Sep 2021
Topic Review
TAP1 Gene
Transporter 1, ATP binding cassette subfamily B member: The TAP1 gene provides instructions for making a protein that plays an important role in the immune system. 
  • 894
  • 24 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.
  • 894
  • 24 Dec 2020
Topic Review
FLI1 Gene
Fli-1 proto-oncogene, ETS transcription factor
  • 894
  • 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.
  • 894
  • 25 Dec 2020
Topic Review
FOXP2 Gene
Forkhead box P2
  • 893
  • 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).
  • 893
  • 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.
  • 893
  • 12 Aug 2021
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