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Topic Review
GLDC Gene
Glycine Decarboxylase
  • 810
  • 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).
  • 810
  • 24 Dec 2020
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.
  • 810
  • 24 Dec 2020
Topic Review
NOTCH2 Gene
notch 2
  • 810
  • 24 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
FRAS1 Gene
Fraser extracellular matrix complex subunit 1
  • 810
  • 25 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).
  • 810
  • 15 Mar 2023
Topic Review
Motion Sickness
Motion sickness is a common condition characterized by a feeling of unwellness brought on by certain kinds of movement.
  • 809
  • 23 Dec 2020
Topic Review
Menkes Syndrome
Menkes syndrome is a disorder that affects copper levels in the body.
  • 808
  • 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.
  • 808
  • 23 Dec 2020
Topic Review
DCX Gene
Doublecortin: The DCX gene provides instructions for producing a protein called doublecortin. 
  • 808
  • 23 Dec 2020
Topic Review
GJA1 Gene
Gap junction protein alpha 1
  • 808
  • 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.
  • 808
  • 21 Nov 2022
Topic Review
HCFC1 Gene
Host cell factor C1
  • 807
  • 22 Dec 2020
Topic Review
MYH7 Gene
myosin heavy chain 7
  • 807
  • 23 Dec 2020
Topic Review
SHOX Gene
short stature homeobox
  • 807
  • 24 Dec 2020
Topic Review
PDP1 Gene
pyruvate dehydrogenase phosphatase catalytic subunit 1
  • 807
  • 25 Dec 2020
Topic Review
Frataxin and Mutations linked with Disease
Frataxin, the protein implicated in Friedreich’s ataxia (FRDA), has a role in the Fe–S cluster biogenesis and possesses a well-defined structure. Several frataxin point mutations, identified in heterozygous FRDA patients, affect the protein structure and function and its binding with partners.
  • 807
  • 08 Mar 2022
Topic Review
Spinocerebellar Ataxia Type 36
Spinocerebellar ataxia type 36 (SCA36) is a condition characterized by progressive problems with movement that typically begin in mid-adulthood. People with this condition initially experience problems with coordination and balance (ataxia). Affected individuals often have exaggerated reflexes (hyperreflexia) and problems with speech (dysarthria). They also usually develop muscle twitches (fasciculations) of the tongue and over time, the muscles in the tongue waste away (atrophy). These tongue problems can cause difficulties swallowing liquids. As the condition progresses, individuals with SCA36 develop muscle atrophy in the legs, forearms, and hands. Another common feature of SCA36 is the atrophy of specialized nerve cells that control muscle movement (motor neurons), which can contribute to the tongue and limb muscle atrophy in affected individuals.  
  • 807
  • 23 Dec 2020
Topic Review
Generalized Pustular Psoriasis
Generalized pustular psoriasis (GPP) is a severe form of a skin disorder called psoriasis.
  • 806
  • 23 Dec 2020
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