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Topic Review
PHKA1 Gene
phosphorylase kinase regulatory subunit alpha 1
  • 1.0K
  • 25 Dec 2020
Topic Review
AGT Gene
angiotensinogen
  • 1.0K
  • 24 Dec 2020
Topic Review
Geleophysic Dysplasia
Geleophysic dysplasia is an inherited condition that affects many parts of the body. It is characterized by abnormalities involving the bones, joints, heart, and skin.
  • 1.0K
  • 23 Dec 2020
Topic Review
MMUT Gene
Methylmalonyl-CoA mutase
  • 1.0K
  • 04 Jan 2021
Topic Review
Brain-Epigenome of One-Carbon-Metabolism in ASD
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition affecting behavior and communication, presenting with extremely different clinical phenotypes and features. ASD etiology is composite and multifaceted with several causes and risk factors responsible for different individual disease pathophysiological processes and clinical phenotypes. From a genetic and epigenetic side, several candidate genes have been reported as potentially linked to ASD, which can be detected in about 10–25% of patients. Epigenome signature is a promising field in ASD clinical and translational research.
  • 1.0K
  • 26 May 2021
Topic Review
Sphingolipid Pathway in IDH1mut Glioma
The presence of the IDH mutation in glioma raises the possibility that these CNS malignancies could be targeted with metabolic-based therapeutics. Exploration of the role that regulatory lipids, such as sphingolipids serve within the IDH1mut gliomas is limited. Our study incorporates LC/MS lipidomic discovery with an aim to identify vulnerabilities within the sphingolipid metabolism that could be exploited therapeutically. We reveal elevation in certain lipids produced along the sphingolipid degradation pathway for IDH1 mutated glioma cells. Our review of TCGA data from clinical patients reveal a parallel trend for enzymes associated with sphingolipid degradation that correlates to increased survivability in glioma patients. We demonstrate the biostatic effects of treatments which target this pathway via inhibiting sphingosine kinase and exacerbating the imbalance between sphingosine and sphingosine 1-phosphate. 
  • 1.0K
  • 23 Oct 2020
Topic Review
CHOPS Syndrome
CHOPS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). The name "CHOPS" is an abbreviation for a list of features of the disorder including cognitive impairment, coarse facial features, heart defects, obesity, lung (pulmonary) involvement, short stature, and skeletal abnormalities.
  • 1.0K
  • 24 Dec 2020
Topic Review
Factor V Leiden Thrombophilia
Factor V Leiden thrombophilia is an inherited disorder of blood clotting. Factor V Leiden is the name of a specific gene mutation that results in thrombophilia, which is an increased tendency to form abnormal blood clots that can block blood vessels.
  • 1.0K
  • 25 Dec 2020
Topic Review
Epigenetic Regulation of Epidermal Differentiation
Epidermal differentiation relies on a highly coordinated program of gene expression. Epigenetic mechanisms, which commonly include DNA methylation, covalent histone modifications, and microRNA (miRNA) activity, modulate various stages of gene expression by altering chromatin accessibility and mRNA stability. Their involvement in epidermal differentiation is a matter ofintensive studies.
  • 1.0K
  • 18 Jan 2021
Topic Review
C10orf71
C10orf71 is a gene located on chromosome 10 open reading frame 71. It is primarily understood that this gene is moderately expressed in muscle tissue and cardiac tissue.
  • 1.0K
  • 28 Oct 2022
Topic Review
Septo-Optic Dysplasia
Septo-optic dysplasia is a disorder of early brain development.
  • 1.0K
  • 25 Dec 2020
Topic Review
PC Gene
pyruvate carboxylase
  • 1.0K
  • 25 Dec 2020
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. 
  • 1.0K
  • 23 Jun 2021
Topic Review
Non-Sensing Ocular Ion Channels
Ionchannels are membrane protein that allows the flow of ions across the cell membrane. This is essential for cellular communication and hence mutations that results in non functional protein cause disease. The paper reviews only nonsense mutations of ion channels that cause blindness and proposes several ways this can be corrected. 
  • 1.0K
  • 10 Oct 2020
Topic Review
Laron Syndrome
Laron syndrome is a rare form of short stature that results from the body's inability to use growth hormone, a substance produced by the brain's pituitary gland that helps promote growth.
  • 1.0K
  • 23 Dec 2020
Topic Review
Polycythemia Vera
Polycythemia vera is a condition characterized by an increased number of red blood cells in the bloodstream. Affected individuals may also have excess white blood cells and blood clotting cells called platelets. These extra cells and platelets cause the blood to be thicker than normal. As a result, abnormal blood clots are more likely to form and block the flow of blood through arteries and veins. Individuals with polycythemia vera have an increased risk of deep vein thrombosis (DVT), a type of blood clot that occurs in the deep veins of the arms or legs. If a DVT travels through the bloodstream and lodges in the lungs, it can cause a life-threatening clot known as a pulmonary embolism (PE). Affected individuals also have an increased risk of heart attack and stroke caused by blood clots in the heart and brain.
  • 1.0K
  • 24 Dec 2020
Topic Review
Porphyria
Porphyria is a group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is a component of several iron-containing proteins called hemoproteins, including hemoglobin (the protein that carries oxygen in the blood).
  • 1.0K
  • 24 Dec 2020
Topic Review
CHILD Syndrome
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, more commonly known by the acronym CHILD syndrome, is a condition that affects the development of several parts of the body. The signs and symptoms of this disorder are typically limited to either the right side or the left side of the body. ("Hemi-" means "half," and "dysplasia" refers to abnormal growth.) The right side is affected about twice as often as the left side.
  • 1.0K
  • 04 Jan 2021
Topic Review
Fundus Albipunctatus
Fundus albipunctatus is an eye disorder characterized by an impaired ability to see in low light (night blindness) and the presence of whitish-yellow flecks in the retina, which is the specialized light-sensitive tissue in the inner lining of the back of the eye (the fundus). The flecks are detected during an eye examination.
  • 1.0K
  • 23 Dec 2020
Topic Review
SDHA Gene
succinate dehydrogenase complex flavoprotein subunit A
  • 1.0K
  • 19 Apr 2021
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