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Topic Review
SHANK3 Gene
SH3 and multiple ankyrin repeat domains 3
  • 792
  • 24 Dec 2020
Topic Review
SLC2A9 Gene
solute carrier family 2 member 9
  • 792
  • 24 Dec 2020
Topic Review
Episodic Ataxia
Episodic ataxia is a group of related conditions that affect the nervous system and cause problems with movement. People with episodic ataxia have recurrent episodes of poor coordination and balance (ataxia). During these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraine headaches, blurred or double vision, slurred speech, and ringing in the ears (tinnitus). Seizures, muscle weakness, and paralysis affecting one side of the body (hemiplegia) may also occur during attacks. Additionally, some affected individuals have a muscle abnormality called myokymia during or between episodes. This abnormality can cause muscle cramping, stiffness, and continuous, fine muscle twitching that appears as rippling under the skin.
  • 792
  • 25 Dec 2020
Topic Review
PDHX Gene
pyruvate dehydrogenase complex component X
  • 792
  • 25 Dec 2020
Topic Review
PHKG2 Gene
phosphorylase kinase catalytic subunit gamma 2
  • 792
  • 25 Dec 2020
Topic Review
Muscular Dystrophies (MD)
Muscular dystrophies (MDs) are genetic disorders caused by mutations in several genes that lead to the lack of or dysfunctional production of proteins that are essential for myofiber integrity and contraction. MDs are a group of diseases that cause, but are not restricted to, progressive muscle destruction and weakness, with nine most common forms: myotonic, Duchenne, Becker, limb-girdle, facioscapulohumeral, congenital, oculopharyngeal, distal, and Emery–Dreifuss.
  • 792
  • 22 Nov 2021
Topic Review
LncRNAs in Cancer Stem Cell Signaling Pathways
Initially entitled as junk matter, non-coding RNAs are an exceptional class of RNAs constituting a majority of the transcriptional output in living cells, which are not translated into functional proteins. They are not only responsible for regulating the expression of the gene at the transcriptional and post-transcriptional stages but also for mediating various cellular processes such as heterochromatin formation, epigenetic modifications, signal transduction and so on. It is quite evident from one research that the abnormal expression of LncRNAs plays a significant role in cancer stem cells (CSCs)’ metabolism. hey regulate gene expression by the following approaches: as a modulator of gene expression; as a decoy to lead the transcription factor elsewhere from a target site; as a competitor to hinder the attachment of other molecules to the target site; as a chaperone for molecules to attach to a certain segment and as a scaffold that enhances the association of different proteins into different complexes.
  • 792
  • 21 Nov 2022
Topic Review
UROD Gene
Uroporphyrinogen decarboxylase.
  • 791
  • 23 Dec 2020
Topic Review
FGFR4 Gene
Fibroblast growth factor receptor 4: The FGFR4 gene provides instructions for making a protein called fibroblast growth factor receptor 4. 
  • 791
  • 25 Dec 2020
Topic Review
Familial Restrictive Cardiomyopathy
Familial restrictive cardiomyopathy is a genetic form of heart disease. For the heart to beat normally, the heart (cardiac) muscle must contract and relax in a coordinated way. Oxygen-rich blood from the lungs travels first through the upper chambers of the heart (the atria), and then to the lower chambers of the heart (the ventricles).
  • 791
  • 25 Dec 2020
Topic Review
Mandibuloacral Dysplasia
Mandibuloacral dysplasia is a condition that causes a variety of abnormalities involving bone development, skin coloring (pigmentation), and fat distribution.
  • 790
  • 23 Dec 2020
Topic Review
Mitochondrial Trifunctional Protein Deficiency
Mitochondrial trifunctional protein deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).
  • 790
  • 23 Dec 2020
Topic Review
SURF1 Gene
SURF1, cytochrome c oxidase assembly factor: The SURF1 gene provides instructions for making a protein that is important in oxidative phosphorylation, the process by which the energy from food is converted into a form cells can use. 
  • 790
  • 24 Dec 2020
Topic Review
CFH Gene
complement factor H
  • 790
  • 24 Dec 2020
Topic Review
Glutathione Synthetase Deficiency
Glutathione synthetase deficiency is a disorder that prevents the production of an important molecule called glutathione. Glutathione helps prevent damage to cells by neutralizing harmful molecules generated during energy production. Glutathione also plays a role in processing medications and cancer-causing compounds (carcinogens), and building DNA, proteins, and other important cellular components.
  • 789
  • 01 Feb 2021
Topic Review
JAG1 Gene
Jagged 1
  • 789
  • 23 Dec 2020
Topic Review
Trichothiodystrophy
Trichothiodystrophy, which is commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is brittle hair that is sparse and easily broken. Tests show that the hair is lacking sulfur, an element that normally gives hair its strength.
  • 789
  • 23 Dec 2020
Topic Review
Langerhans Cell Histiocytosis
Langerhans cell histiocytosis is a disorder in which excess immune system cells called Langerhans cells build up in the body.
  • 789
  • 23 Dec 2020
Topic Review
Prothrombin Thrombophilia
Prothrombin thrombophilia is an inherited disorder of blood clotting. Thrombophilia is an increased tendency to form abnormal blood clots in blood vessels.
  • 788
  • 24 Dec 2020
Topic Review
COL6A2 Gene
collagen type VI alpha 2 chain
  • 788
  • 24 Dec 2020
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