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Topic Review
SUCLG1 Gene
Succinate-CoA ligase alpha subunit: The SUCLG1 gene provides instructions for making one part, the alpha subunit, of an enzyme called succinate-CoA ligase.
  • 711
  • 24 Dec 2020
Topic Review
Valuing the Wild
Warming and drought are reducing global crop production with a potential to substantially worsen global malnutrition. As with the green revolution in the last century, plant genetics may offer concrete opportunities to increase yield and crop adaptability. However, the rate at which the threat is happening requires powering new strategies in order to meet the global food demand.
  • 711
  • 09 Oct 2021
Topic Review
Genitopatellar Syndrome
Genitopatellar syndrome is a rare condition characterized by genital abnormalities, missing or underdeveloped kneecaps (patellae), intellectual disability, and abnormalities affecting other parts of the body.
  • 710
  • 23 Dec 2020
Topic Review
CTSD Gene
Cathepsin D: The CTSD gene provides instructions for making an enzyme called cathepsin D.
  • 710
  • 23 Dec 2020
Topic Review
KRT6B Gene
Keratin 6B
  • 710
  • 23 Dec 2020
Topic Review
Dementia with Lewy Bodies
Dementia with Lewy bodies is a nervous system disorder characterized by a decline in intellectual function (dementia), a group of movement problems known as parkinsonism, visual hallucinations, sudden changes (fluctuations) in behavior and intellectual ability, and acting out dreams while asleep (REM sleep behavior disorder). This condition typically affects older adults, most often developing between ages 50 and 85. The life expectancy of individuals with dementia with Lewy bodies varies; people typically survive about 5 to 7 years after they are diagnosed.
  • 710
  • 24 Dec 2020
Topic Review
Mucopolysaccharidosis Type II
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the body and occurs almost exclusively in males. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals.
  • 709
  • 23 Dec 2020
Topic Review
Hereditary Diffuse Gastric Cancer
Hereditary diffuse gastric cancer (HDGC) is an inherited disorder that greatly increases the chance of developing a form of stomach(gastric) cancer.
  • 708
  • 23 Dec 2020
Topic Review
Methylmalonic Acidemia
Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly.
  • 707
  • 23 Dec 2020
Topic Review
JUP Gene
Junction plakoglobin
  • 707
  • 23 Dec 2020
Topic Review
SLC29A3 Gene
solute carrier family 29 member 3
  • 707
  • 24 Dec 2020
Topic Review
Mitochondrial tRNASer(UCN) Gene
Mitochondrial tRNASer(UCN) is considered a hot-spot for non-syndromic and aminoglycoside-induced hearing loss. However, many patients have been described with more extensive neurological diseases, mainly including epilepsy, myoclonus, ataxia, and myopathy. 
  • 707
  • 24 Feb 2023
Topic Review
McLeod Neuroacanthocytosis Syndrome
McLeod neuroacanthocytosis syndrome is primarily a neurological disorder that occurs almost exclusively in boys and men.
  • 706
  • 23 Dec 2020
Topic Review
Kawasaki Disease
Kawasaki disease is a sudden and time-limited (acute) illness that affects infants and young children.
  • 706
  • 23 Dec 2020
Topic Review
ERCC2 Gene
ERCC excision repair 2, TFIIH core complex helicase subunit
  • 706
  • 24 Dec 2020
Topic Review
FGFR1 Gene
Fibroblast growth factor receptor 1: The FGFR1 gene provides instructions for making a protein called fibroblast growth factor receptor 1. 
  • 706
  • 25 Dec 2020
Topic Review
Polycomb Group Proteins and Cancer
The Polycomb-group proteins (PcGs) are a family of proteins that use epigenetic mechanisms to maintain or repress expression of their target genes. They were originally discovered in Drosophila (fruit flies), though they've been shown to be conserved in many species due to their vital roles in embryonic development. These proteins' ability to alter gene expression has made them targets of investigation for research groups seeking to understand disease pathology and oncology.
  • 706
  • 11 Nov 2022
Topic Review
DARS1 Gene
Aspartyl-tRNA Synthetase: The DARS1 gene provides instructions for making an enzyme called aspartyl-tRNA synthetase. 
  • 705
  • 23 Dec 2020
Topic Review
RBM8A Gene
RNA binding motif protein 8A
  • 705
  • 23 Dec 2020
Topic Review
Nonsyndromic Aplasia Cutis Congenita
Nonsyndromic aplasia cutis congenita is a condition in which babies are born with localized areas of missing skin (lesions). These areas resemble ulcers or open wounds, although they are sometimes already healed at birth. Lesions most commonly occur on the top of the head (skull vertex), although they can be found on the torso or limbs. In some cases, the bone and other tissues under the skin defect are also underdeveloped.
  • 705
  • 24 Dec 2020
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