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Topic Review
Hartnup Disease
Hartnup disease is a condition caused by the body's inability to absorb certain protein building blocks (amino acids) from the diet.
  • 963
  • 23 Dec 2020
Topic Review
IKBKG Gene
Inhibitor of nuclear factor kappa B kinase subunit gamma
  • 963
  • 23 Dec 2020
Topic Review
Norrie Disease
Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth.
  • 963
  • 24 Dec 2020
Topic Review
MT-ATP6 Gene
mitochondrially encoded ATP synthase membrane subunit 6
  • 963
  • 23 Dec 2020
Topic Review
RPE65
RPE65, retinoid isomerohydrolase
  • 963
  • 24 Dec 2020
Topic Review
TSEN2 Gene
tRNA splicing endonuclease subunit 2
  • 962
  • 22 Dec 2020
Topic Review
CDKN2A Gene
cyclin dependent kinase inhibitor 2A
  • 962
  • 24 Dec 2020
Topic Review
Crouzon Syndrome with Acanthosis Nigricans
Crouzon syndrome with acanthosis nigricans is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans.mas.
  • 962
  • 24 Dec 2020
Topic Review
Dissecting Polygenic Etiology of Ischemic Stroke
Ischemic stroke (IS), the leading cause of death and disability worldwide, is caused by many modifiable and non-modifiable risk factors. This complex disease is also known for its multiple etiologies with moderate heritability. Polygenic risk scores (PRSs), which have been used to establish a common genetic basis for IS, may contribute to IS risk stratification for disease/outcome prediction and personalized management. Statistical modeling and machine learning algorithms have contributed significantly to this field. For instance, multiple algorithms have been successfully applied to PRS construction and integration of genetic and non-genetic features for outcome prediction to aid in risk stratification for personalized management and prevention measures. PRS derived from variants with effect size estimated based on the summary statistics of a specific subtype shows a stronger association with the matched subtype. The disruption of the extracellular matrix and amyloidosis account for the pathogenesis of cerebral small vessel disease (CSVD). Pathway-specific PRS analyses confirm known and identify novel etiologies related to IS.
  • 962
  • 20 Oct 2022
Topic Review
MT-TS1 Gene
mitochondrially encoded tRNA serine 1 (UCN)
  • 961
  • 23 Dec 2020
Topic Review
SMC3 Gene
structural maintenance of chromosomes 3
  • 961
  • 24 Dec 2020
Topic Review
Proteus Syndrome
Proteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Organs and tissues affected by the disease grow out of proportion to the rest of the body. The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently. Newborns with Proteus syndrome have few or no signs of the condition. Overgrowth becomes apparent between the ages of 6 and 18 months and gets more severe with age.
  • 961
  • 24 Dec 2020
Topic Review
CyberGenomics
Cybersecurity (CS) field is a complex discipline with multiple layers. We deconstruct the CS specialist as a material (naturally/ genetically determined) and non-material (psychologically determined) entity. This entity is mapped to CS competences required to conduct everyday tasks where psychological factors are also present (e.g. stress). All the structural prerequisites for the development and functioning of the psyche are genetically coded and controlled. Behavior genetics addresses the interdisciplinary effort to establish causal links between genomic loci and human behavioral traits and neural mechanisms. Almost every human behavioral trait is a result of many genome variants in action altogether with environmental factors. Cybergenomics focuses on contextualizing the behavior genetics aspects in the application of cybersecurity.
  • 961
  • 30 Nov 2021
Topic Review
Tuberous Sclerosis Complex
Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body.
  • 960
  • 23 Dec 2020
Topic Review
Beta-Propeller Protein-Associated Neurodegeneration
Beta-propeller protein-associated neurodegeneration (BPAN) is a disorder that damages the nervous system and is progressive, which means that it gradually gets worse. Affected individuals develop a buildup of iron in the brain that can be seen with medical imaging. For this reason, BPAN is classified as a type of disorder called neurodegeneration with brain iron accumulation (NBIA), although the iron accumulation may not occur until late in the disease.
  • 960
  • 24 Dec 2020
Topic Review
Chromosome 16 Open Reading Frame 13
An Error has occurred retrieving Wikidata item for infobox Chromosome 16 open reading frame 13, also called C16orf13, is a protein-coding gene of unknown function, also known as JFP2. Though the function of this gene is unknown, various data have revealed that it is expressed at high levels in various cancerous tissues. Underexpression of this gene has also been linked to disease consequences in humans.
  • 960
  • 27 Sep 2022
Topic Review
Trichorhinophalangeal Syndrome Type I
Trichorhinophalangeal syndrome type I (TRPS I) is a condition that causes bone and joint malformations; distinctive facial features; and abnormalities of the skin, hair, teeth, sweat glands, and nails.
  • 959
  • 23 Dec 2020
Topic Review
Wolfram Syndrome
Wolfram syndrome is a condition that affects many of the body's systems.
  • 959
  • 24 Dec 2020
Topic Review
TNFRSF1A Gene
TNF receptor superfamily member 1A: The TNFRSF1A gene provides instructions for making a protein called tumor necrosis factor receptor 1 (TNFR1).
  • 959
  • 25 Dec 2020
Topic Review
Mannose-Binding Lectin Deficiency
Mannose-binding lectin deficiency is a condition that affects the immune system. People with this condition have low levels (deficiency) of an immune system protein called mannose-binding lectin in their blood. Whether this deficiency makes affected individuals prone to recurrent infections is not clear.
  • 958
  • 23 Dec 2020
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