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Topic Review
TPP1 Gene
Tripeptidyl peptidase 1: The TPP1 gene provides instructions for making an enzyme called tripeptidyl peptidase 1.
  • 774
  • 25 Dec 2020
Topic Review
Purine Nucleoside Phosphorylase Deficiency
Purine nucleoside phosphorylase deficiency is a disorder of the immune system called an immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria and viruses.
  • 773
  • 24 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.
  • 773
  • 24 Dec 2020
Topic Review
EHMT1 Gene
Euchromatic histone lysine methyltransferase 1: The EHMT1 gene provides instructions for making an enzyme called euchromatic histone methyltransferase 1. 
  • 773
  • 24 Dec 2020
Topic Review
Epigenetic/non-epigenetic mechanisms of HIV control
The persistence of latent HIV provirus pools in different resting CD4+ cell subsets remains the greatest obstacle in the current efforts to treat and cure HIV infection. Recent efforts to purge out latently infected memory CD4+ T-cells using latency-reversing agents have failed in clinical trials. This review discusses the epigenetic and non-epigenetic mechanisms of HIV latency control, major limitations of the current approaches of using latency-reversing agents to reactivate HIV latency in resting CD4+ T-cells, and potential solutions to these limitations.
  • 773
  • 16 Apr 2021
Topic Review
Null cyp1b1 Activity in Zebrafish
CYP1B1 is a cytochrome P450 monooxygenase involved in oxidative metabolism of different endogenous lipids and drugs. The loss of function (LoF) of this gene underlies many cases of recessive primary congenital glaucoma (PCG), an infrequent disease and a common cause of infantile loss of vision in children. CYP1B1 loss of function (LoF) is the main known genetic alteration present in recessive primary congenital glaucoma (PCG), an infrequent disease characterized by delayed embryonic development of the ocular iridocorneal angle; however, the underlying molecular mechanisms are poorly understood.
  • 773
  • 04 Aug 2021
Topic Review
STAT3 Gene
Signal transducer and activator of transcription 3: The STAT3 gene is part of a family known as the STAT genes. These genes provide instructions for making proteins that are part of essential chemical signaling pathways within cells. 
  • 773
  • 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.  
  • 772
  • 23 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.
  • 772
  • 23 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.
  • 772
  • 24 Dec 2020
Topic Review
ABCC9 Gene
ATP binding cassette subfamily C member 9
  • 772
  • 24 Dec 2020
Topic Review
SLC11A2 Gene
solute carrier family 11 member 2
  • 772
  • 24 Dec 2020
Topic Review
Familial Exudative Vitreoretinopathy
Familial exudative vitreoretinopathy is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the specialized light-sensitive tissue that lines the back of the eye. The disorder prevents blood vessels from forming at the edges of the retina, which reduces the blood supply to this tissue.
  • 772
  • 25 Dec 2020
Topic Review
MLH1 Gene
mutL homolog 1
  • 771
  • 22 Dec 2020
Topic Review
UBE3A Gene
Ubiquitin protein ligase E3A.
  • 771
  • 23 Dec 2020
Topic Review
Wiedemann-Rautenstrauch Syndrome
Wiedemann-Rautenstrauch syndrome is a type of progeria, which is a group of genetic conditions characterized by the dramatic, rapid appearance of aging earlier in life than expected.
  • 771
  • 23 Dec 2020
Topic Review
TAP2 Gene
Transporter 2, ATP binding cassette subfamily B member: The TAP2 gene provides instructions for making a protein that plays an important role in the immune system. 
  • 771
  • 24 Dec 2020
Topic Review
Renal Tubular Dysgenesis
Renal tubular dysgenesis is a severe kidney disorder characterized by abnormal development of the kidneys before birth.
  • 771
  • 24 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.
  • 770
  • 23 Dec 2020
Topic Review
Oral-Facial-Digital Syndrome
Oral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).
  • 770
  • 24 Dec 2020
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