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Topic Review
NTRK1 Gene
neurotrophic receptor tyrosine kinase 1
  • 796
  • 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).
  • 796
  • 15 Mar 2023
Topic Review
HADHB Gene
Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
  • 795
  • 22 Dec 2020
Topic Review
Carnitine Palmitoyltransferase II Deficiency
Carnitine palmitoyltransferase II (CPT II) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT II deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form.
  • 795
  • 19 Apr 2021
Topic Review
COL6A1 Gene
collagen type VI alpha 1 chain
  • 795
  • 24 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.
  • 795
  • 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.
  • 795
  • 21 Nov 2022
Topic Review
Motion Sickness
Motion sickness is a common condition characterized by a feeling of unwellness brought on by certain kinds of movement.
  • 795
  • 23 Dec 2020
Topic Review
STAT1 Gene
Signal transducer and activator of transcription 1: The STAT1 gene provides instructions for making a protein that is involved in multiple immune system functions, including the body's defense against a fungus called Candida.
  • 794
  • 22 Dec 2020
Topic Review
TAF1 Gene
TATA-box binding protein associated factor 1: The TAF1 gene provides instructions for making part of a protein called transcription factor IID (TFIID). 
  • 794
  • 24 Dec 2020
Topic Review
DYNC1H1 Gene
Dynein Cytoplasmic 1 Heavy Chain 1
  • 794
  • 24 Dec 2020
Topic Review
CLCN2-Related Leukoencephalopathy
CLCN2-related leukoencephalopathy is a disorder that affects the brain. People with this condition have neurological problems that become apparent anytime from childhood to adulthood; the problems generally do not worsen much over time. Most affected individuals have difficulty with coordination and balance (ataxia) but can walk without support, and many have frequent headaches. Individuals diagnosed in childhood usually also have learning disabilities, while those whose symptoms begin in adulthood typically also have vision problems. These vision problems are due to breakdown of the light-sensing tissue at the back of the eyes (retinopathy) or degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. Some affected individuals have mild muscle stiffness (spasticity). Affected males are unable to father children (infertile).
  • 794
  • 24 Dec 2020
Topic Review
SHANK3 Gene
SH3 and multiple ankyrin repeat domains 3
  • 794
  • 24 Dec 2020
Topic Review
ACAN Gene
aggrecan
  • 794
  • 24 Dec 2020
Topic Review
Early-onset Glaucoma
Glaucoma is a group of eye disorders in which the optic nerves connecting the eyes and the brain are progressively damaged. This damage can lead to reduction in side (peripheral) vision and eventual blindness. Other signs and symptoms may include bulging eyes, excessive tearing, and abnormal sensitivity to light (photophobia). The term "early-onset glaucoma" may be used when the disorder appears before the age of 40.
  • 794
  • 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.
  • 794
  • 08 Mar 2022
Topic Review
Medullary Cystic Kidney Disease Type1
Medullary cystic kidney disease type 1 (MCKD1) is an inherited condition that affects the kidneys.
  • 793
  • 23 Dec 2020
Topic Review
Multiple System Atrophy
Multiple system atrophy is a progressive brain disorder that affects movement and balance and disrupts the function of the autonomic nervous system. The autonomic nervous system controls body functions that are mostly involuntary, such as regulation of blood pressure. The most frequent autonomic symptoms associated with multiple system atrophy are a sudden drop in blood pressure upon standing (orthostatic hypotension), urinary difficulties, and erectile dysfunction in men.
  • 793
  • 23 Dec 2020
Topic Review
RB1 Gene
RB transcriptional corepressor 1
  • 793
  • 23 Dec 2020
Topic Review
Asphyxiating Thoracic Dystrophy
Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). Additional skeletal abnormalities can include unusually shaped collarbones (clavicles) and pelvic bones, and and cone-shaped ends of the long bones in the arms and legs. Many infants with this condition are born with an extremely narrow, bell-shaped chest that can restrict the growth and expansion of the lungs. Life-threatening problems with breathing result, and people with asphyxiating thoracic dystrophy may live only into infancy or early childhood. However, in people who survive beyond the first few years, the narrow chest and related breathing problems can improve with age.
  • 793
  • 24 Dec 2020
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