Your browser does not fully support modern features. Please upgrade for a smoother experience.
Subject:
All Disciplines Arts & Humanities Biology & Life Sciences Business & Economics Chemistry & Materials Science Computer Science & Mathematics Engineering Environmental & Earth Sciences Medicine & Pharmacology Physical Sciences Public Health & Healthcare Social Sciences
Sort by:
Most Viewed Latest Alphabetical (A-Z) Alphabetical (Z-A)
Filter:
All Topic Review Biography Peer Reviewed Entry Video Entry
Topic Review
TGM3 Gene
Transglutaminase 3: The TGM3 gene provides instructions for making an enzyme called transglutaminase 3.
  • 905
  • 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.
  • 905
  • 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.
  • 905
  • 12 Aug 2021
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.
  • 905
  • 03 Sep 2021
Topic Review
Lennox-Gastaut Syndrome
Lennox-Gastaut syndrome is a severe condition characterized by recurrent seizures (epilepsy) that begin early in life.
  • 904
  • 23 Dec 2020
Topic Review
COL17A1 Gene
collagen type XVII alpha 1 chain
  • 904
  • 24 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.
  • 903
  • 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.
  • 903
  • 24 Dec 2020
Topic Review
Familial HDL Deficiency
Familial HDL deficiency is a condition characterized by low levels of high-density lipoprotei% (HDL) in the blood.
  • 903
  • 25 Dec 2020
Topic Review
Orofacial Cancers
Orofacial cancers result in facial deformities and impairment of vital functions and are often lethal. These aggressive solid tumors exhibit great heterogeneity between them and show distinct and exclusive molecular alterations that deregulate the function of important signaling pathways. The Notch signaling pathway is involved in the initiation and development of orofacial cancers. Increasing evidence suggests that Notch molecules may have a dual function in cancer, acting either as oncogenes or tumor suppressor genes. Crosstalk between Notch and other signaling pathways provides a critical multidirectional control in these cancers. Protein phosphorylation is activated in cancers and therefore novel drugs inhibiting phosphorylation events (kinase inhibitors) are increasingly used in the treatment of cancers. Another pharmacological strategy is the selective targeting of Notch signaling in order to eliminate the cancer stem cells using monoclonal antibodies against specific regions of the Notch molecules. Organoids, “organ-on-a-chip” devices and single-cell genomic analyses could be used for further investigations and preclinical studies in orofacial cancers. Organoids can be used to study complex interactions between the various cells lines in orofacial cancers, as well as for the preclinical screening of novel drugs. Microfluidic culture systems, also called “organs-on-chips”, can be used to model cancer cell behavior within orofacial tissues and their environment. These chips also enable to vary drug delivery and composition in a controlled manner in order to study cancer tissue responses to various pharmaceutical anticancer products. Single-cell RNA-seq analyses allow exploring the genetic and functional heterogeneity of orofacial cancers at a cellular resolution, thus revealing new insights into tumor composition and drug resistance. These important technological developments and the innovative therapeutic strategies demonstrate significant promise and generate enthusiasm and optimism within the oncology community.
  • 902
  • 28 Oct 2020
Topic Review
Manitoba Oculotrichoanal Syndrome
Manitoba oculotrichoanal syndrome is a condition involving several characteristic physical features, particularly affecting the eyes (oculo-), hair (tricho-), and anus (-anal).
  • 902
  • 23 Dec 2020
Topic Review
Megalencephalic Leukoencephalopathy with Subcortical Cysts
Megalencephalic leukoencephalopathy with subcortical cysts is a progressive condition that affects brain development and function.
  • 902
  • 23 Dec 2020
Topic Review
MT-TE Gene
mitochondrially encoded tRNA glutamic acid
  • 902
  • 23 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).
  • 902
  • 23 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.
  • 902
  • 24 Dec 2020
Topic Review
TUBB2B Gene
Tubulin beta 2B class IIb.
  • 901
  • 23 Dec 2020
Topic Review
CACNA1F Gene
calcium voltage-gated channel subunit alpha1 F
  • 901
  • 24 Dec 2020
Topic Review
F8 Gene
Coagulation factor VIII: The F8 gene provides instructions for making a protein called coagulation factor VIII. 
  • 901
  • 24 Dec 2020
Topic Review
FOXP2 Gene
Forkhead box P2
  • 901
  • 25 Dec 2020
Topic Review
Short QT Syndrome
Short QT syndrome is a condition that can cause a disruption of the heart's normal rhythm (arrhythmia).
  • 901
  • 25 Dec 2020
  • Page
  • of
  • 135
Featured Entry Collections
>>

Featured Reprints

>>
Encyclopedia of Digital Society, Industry 5.0 and Smart City
Encyclopedia of Engineering
Encyclopedia of Social Sciences
Encyclopedia of Medieval Royal Iconography
Academic Video Service
Feedback