Your browser does not fully support modern features. Please upgrade for a smoother experience.
Subject:
All Disciplines Arts & Humanities Biology & Life Sciences Business & Economics Chemistry & Materials Science Computer Science & Mathematics Engineering Environmental & Earth Sciences Medicine & Pharmacology Physical Sciences Public Health & Healthcare Social Sciences
Sort by:
Most Viewed Latest Alphabetical (A-Z) Alphabetical (Z-A)
Filter:
All Topic Review Biography Peer Reviewed Entry Video Entry
Topic Review
Autosomal Dominant Vitreoretinochoroidopathy
Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a disorder that affects several parts of the eyes, including the clear gel that fills the eye (the vitreous), the light-sensitive tissue that lines the back of the eye (the retina), and the network of blood vessels within the retina (the choroid). The eye abnormalities in ADVIRC can lead to varying degrees of vision impairment, from mild reduction to complete loss, although some people with the condition have normal vision.
  • 767
  • 24 Dec 2020
Topic Review
OFD1 Gene
OFD1, centriole and centriolar satellite protein
  • 767
  • 24 Dec 2020
Topic Review
Lamellar Ichthyosis
Lamellar ichthyosis is a condition that mainly affects the skin.
  • 766
  • 23 Dec 2020
Topic Review
RGS9 Gene
regulator of G protein signaling 9
  • 766
  • 24 Dec 2020
Topic Review
SMN1 Gene
survival of motor neuron 1, telomeric
  • 766
  • 24 Dec 2020
Topic Review
SRCAP Gene
Snf2 related CREBBP activator protein
  • 765
  • 22 Dec 2020
Topic Review
Acrocallosal Syndrome
Acrocallosal syndrome is a rare condition characterized by a brain abnormality called agenesis of the corpus callosum, the presence of extra fingers and toes (polydactyly), and distinctive facial features. The signs and symptoms of this disorder are present at birth, and their severity varies widely among affected individuals.
  • 765
  • 23 Dec 2020
Topic Review
Congenital Myasthenic Syndrome
Congenital myasthenic syndrome is a group of conditions characterized by muscle weakness (myasthenia) that worsens with physical exertion.
  • 765
  • 24 Dec 2020
Topic Review
Epigenetics and Cellular Metabolism
Epigenetics refers to the regulatory code that dictates gene expression or not and can be stably inherited in the absence of a constant genomic sequence. The current research content of epigenetics mainly includes DNA methylation and hydroxylmethylation, histone modifications, chromosome remodeling, and non-coding RNA regulation. In the early stage of CRC, DNA methylation status begins to change abnormally, mainly through the hypermethylation of some CpG islands leading to the down-regulation of gene expression and genome-wide hypomethylation, which cause genome instability to participate in tumorigenesis and development.
  • 765
  • 12 Nov 2021
Topic Review
Novel Splicing Variant in Acylglycerol Kinase
Mitochondrial functional integrity depends on protein and lipid homeostasis in the mitochondrial membranes and disturbances in their accumulation can cause disease. AGK, a mitochondrial acylglycerol kinase, is not only involved in lipid signaling but is also a component of the TIM22 complex in the inner mitochondrial membrane, which mediates the import of a subset of membrane proteins.
  • 765
  • 13 Jan 2022
Topic Review
MT-TV Gene
mitochondrially encoded tRNA valine
  • 764
  • 23 Dec 2020
Topic Review
Mitochondrial Neurogastrointestinal Encephalopathy Disease
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is a condition that affects several parts of the body, particularly the digestive system and nervous system. The major features of MNGIE disease can appear anytime from infancy to adulthood, but signs and symptoms most often begin by age 20. The medical problems associated with this disorder worsen with time.
  • 764
  • 23 Dec 2020
Topic Review
Arrhythmogenic Right Ventricular Cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart disease that usually appears in adulthood. ARVC is a disorder of the myocardium, which is the muscular wall of the heart. This condition causes part of the myocardium to break down over time, increasing the risk of an abnormal heartbeat (arrhythmia) and sudden death.
  • 764
  • 24 Dec 2020
Topic Review
Congenital Central Hypoventilation Syndrome
Congenital central hypoventilation syndrome (CCHS) is a disorder that affects normal breathing.
  • 764
  • 24 Dec 2020
Topic Review
Bietti Crystalline Dystrophy
Bietti crystalline dystrophy is a disorder in which numerous small, yellow or white crystal-like deposits of fatty (lipid) compounds accumulate in the light-sensitive tissue that lines the back of the eye (the retina). The deposits damage the retina, resulting in progressive vision loss.
  • 764
  • 24 Dec 2020
Topic Review
SDHB Gene
succinate dehydrogenase complex iron sulfur subunit B
  • 764
  • 24 Dec 2020
Topic Review
GTF2I Gene
General transcription factor IIi
  • 764
  • 22 Dec 2020
Topic Review
SIDDT
Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a rare condition that is fatal in the first year of life; its major features include abnormalities of the reproductive system in males, feeding difficulties, and breathing problems.  
  • 763
  • 23 Dec 2020
Topic Review
Infantile-Onset Ascending Hereditary Spastic Paralysis
Infantile-onset ascending hereditary spastic paralysis is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and eventual paralysis of the lower limbs (paraplegia).
  • 763
  • 23 Dec 2020
Topic Review
Arginase Deficiency
Arginase deficiency is an inherited disorder that causes the amino acid arginine (a building block of proteins) and ammonia to accumulate gradually in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.
  • 763
  • 24 Dec 2020
  • Page
  • of
  • 135
Featured Entry Collections
>>

Featured Reprints

>>
Encyclopedia of Digital Society, Industry 5.0 and Smart City
Encyclopedia of Engineering
Encyclopedia of Social Sciences
Encyclopedia of Medieval Royal Iconography
Academic Video Service
Feedback