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Topic Review
NOTCH2 Gene
notch 2
  • 813
  • 24 Dec 2020
Topic Review
SPINK5 Gene
serine peptidase inhibitor, Kazal type 5
  • 813
  • 24 Dec 2020
Topic Review
Sepiapterin Reductase Deficiency
Sepiapterin reductase deficiency is a condition characterized by movement problems, most often a pattern of involuntary, sustained muscle contractions known as dystonia.
  • 813
  • 25 Dec 2020
Topic Review
GJB2 Gene
Gap junction protein beta 2
  • 813
  • 25 Dec 2020
Topic Review
Guanidinoacetate Methyltransferase Deficiency
Guanidinoacetate methyltransferase deficiency is an inherited disorder that primarily affects the brain and muscles.
  • 812
  • 23 Dec 2020
Topic Review
Huntington Disease
Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition).
  • 812
  • 23 Dec 2020
Topic Review
Hyperlysinemia
Hyperlysinemia is an inherited condition characterized by elevated blood levels of the amino acid lysine, a building block of most proteins.
  • 812
  • 23 Dec 2020
Topic Review
DCX Gene
Doublecortin: The DCX gene provides instructions for producing a protein called doublecortin. 
  • 812
  • 23 Dec 2020
Topic Review
TCN2 Gene
Transcobalamin 2: The TCN2 gene provides instructions for making a protein called transcobalamin (formerly known as transcobalamin II).
  • 812
  • 24 Dec 2020
Topic Review
Chronomodulated Strategy-Based Therapy for Rhythmic Seizures
Epilepsy is a neurological disorder characterized by hypersynchronous recurrent neuronal activities and seizures, as well as loss of muscular control and sometimes awareness. Clinically, seizures have been reported to display daily variations. Conversely, circadian misalignment and circadian clock gene variants contribute to epileptic pathogenesis. Elucidation of the genetic bases of epilepsy is of great importance because the genetic variability of the patients affects the efficacies of antiepileptic drugs (AEDs).
  • 812
  • 15 Mar 2023
Topic Review
Congenital Dyserythropoietic Anemia
Congenital dyserythropoietic anemia (CDA) is an inherited blood disorder that affects the development of red blood cells. This disorder is one of many types of anemia, which is a condition characterized by a shortage of red blood cells. This shortage prevents the blood from carrying an adequate supply of oxygen to the body's tissues. The resulting symptoms can include tiredness (fatigue), weakness, pale skin, and other complications.
  • 811
  • 24 Dec 2020
Topic Review
SHOX Gene
short stature homeobox
  • 811
  • 24 Dec 2020
Topic Review
FANCA Gene
FA complementation group A
  • 811
  • 25 Dec 2020
Topic Review
Deoxyguanosine Kinase Deficiency
Deoxyguanosine kinase deficiency is an inherited disorder that can cause liver disease and neurological problems. Researchers have described two forms of this disorder. The majority of affected individuals have the more severe form, which is called hepatocerebral because of the serious problems it causes in the liver and brain.
  • 810
  • 24 Dec 2020
Topic Review
GJA1 Gene
Gap junction protein alpha 1
  • 810
  • 25 Dec 2020
Topic Review
Menkes Syndrome
Menkes syndrome is a disorder that affects copper levels in the body.
  • 809
  • 23 Dec 2020
Topic Review
MYH7 Gene
myosin heavy chain 7
  • 809
  • 23 Dec 2020
Topic Review
Incontinentia Pigmenti
Incontinentia pigmenti is a condition that can affect many body systems, particularly the skin. This condition occurs much more often in females than in males.
  • 809
  • 23 Dec 2020
Topic Review
Familial Hemophagocytic Lymphohistiocytosis
Familial hemophagocytic lymphohistiocytosis is a disorder in which the immune system produces too many activated immune cells (lymphocytes) called T cells, natural killer cells, B cells, and macrophages (histiocytes). Excessive amounts of immune system proteins called cytokines are also produced. This overactivation of the immune system causes fever and damages the liver and spleen, resulting in enlargement of these organs.
  • 809
  • 25 Dec 2020
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.
  • 809
  • 21 Nov 2022
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