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Topic Review
Propionic Acidemia
Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems.
  • 788
  • 24 Dec 2020
Topic Review
PLAGL1 Gene
PLAG1 like zinc finger 1
  • 788
  • 25 Dec 2020
Topic Review
TNFRSF11B Gene
TNF receptor superfamily member 11b: The TNFRSF11B gene provides instructions for making a protein called osteoprotegerin.
  • 788
  • 25 Dec 2020
Topic Review
Metachromatic Leukodystrophy
Metachromatic leukodystrophy is an inherited disorder characterized by the accumulation of fats called sulfatides in cells.
  • 788
  • 23 Dec 2020
Topic Review
Von Hippel-Lindau Syndrome
Von Hippel-Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and most frequently appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life.  
  • 788
  • 23 Dec 2020
Topic Review
Complex Transposon Insertion, Novel Cause of Pompe Disease
Pompe disease (OMIM#232300) is an autosomal recessive lysosomal storage disorder caused by mutations in the GAA gene. According to public mutation databases, more than 679 pathogenic variants have been described in GAA, none of which are associated with mobile genetic elements. In this article, we report a novel molecular genetic cause of Pompe disease, which could be hardly detected using routine molecular genetic analysis. Whole genome sequencing followed by comprehensive functional analysis allowed us to discover and characterize a complex mobile genetic element insertion deep in the intron 15 of the GAA gene in a patient with infantile onset Pompe disease.
  • 787
  • 28 Oct 2021
Topic Review
Oculopharyngeal Muscular Dystrophy
Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically after age 40.
  • 787
  • 24 Dec 2020
Topic Review
EPM2A Gene
EPM2A, laforin glucan phosphatase
  • 787
  • 24 Dec 2020
Topic Review
Sézary Syndrome
Sézary syndrome is an aggressive form of a type of blood cancer called cutaneous T-cell lymphoma. Cutaneous T-cell lymphomas occur when certain white blood cells, called T cells, become cancerous; these cancers characteristically affect the skin, causing different types of skin lesions. In Sézary syndrome, the cancerous T cells, called Sézary cells, are present in the blood, skin, and lymph nodes. A characteristic of Sézary cells is an abnormally shaped nucleus, described as cerebriform.  
  • 786
  • 23 Dec 2020
Topic Review
IDH2 Gene
Isocitrate dehydrogenase (NADP(+)) 2, mitochondrial
  • 786
  • 23 Dec 2020
Topic Review
Imerslund-Gräsbeck Syndrome
Imerslund-Gräsbeck syndrome is a condition caused by low levels of vitamin B12 (also known as cobalamin).
  • 786
  • 23 Dec 2020
Topic Review
NOTCH1 Gene
notch 1
  • 786
  • 24 Dec 2020
Topic Review
Paget Disease of Bone
Paget disease of bone is a disorder that causes bones to grow larger and weaker than normal. Affected bones may be misshapen and easily broken (fractured).
  • 786
  • 24 Dec 2020
Topic Review
GM1 Gangliosidosis
GM1 gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.
  • 786
  • 23 Dec 2020
Topic Review
Isolated HyperCKemia
Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood.
  • 786
  • 23 Dec 2020
Topic Review
DKC1 Gene
Dyskerin Pseudouridine Synthase 1: The DKC1 gene provides instructions for making a protein called dyskerin. 
  • 785
  • 24 Dec 2020
Topic Review
Dopamine Beta-hydroxylase Deficiency
Dopamine beta (β)-hydroxylase deficiency is a condition that affects the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. Problems related to this disorder can first appear during infancy. Early signs and symptoms may include episodes of vomiting, dehydration, decreased blood pressure (hypotension), difficulty maintaining body temperature, and low blood sugar (hypoglycemia).
  • 785
  • 24 Dec 2020
Topic Review
Erythrokeratodermia Variabilis et Progressiva
Erythrokeratodermia variabilis et progressiva (EKVP) is a skin disorder that is present at birth or becomes apparent in infancy. Although its signs and symptoms vary, the condition is characterized by two major features.
  • 785
  • 25 Dec 2020
Topic Review
Sperm DNA Oxidation
Sperm DNA Oxidation has destructive effects on sperm structures and functions, thus can result in male infertility. The particular composition of the sperm membrane, rich in polyunsaturated fatty acids, and the easy access of sperm DNA to oxidative damage due to sperm cell specific cytologic and metabolic features (no cytoplasm left and cells unable to mount stress responses) make it the cell type in metazoans most susceptible to oxidative damage. In particular, oxidative damage to the spermatozoa genome is an important issue and a cause of male infertility, usually associated with single- or double-strand paternal DNA breaks.
  • 785
  • 27 Jan 2021
Topic Review
Biological Mechanisms Causing Religiosity
The evolutionary psychology of religion is the study of religious belief using evolutionary psychology principles. It is one approach to the psychology of religion. As with all other organs and organ functions, the brain's functional structure is argued to have a genetic basis, and is therefore subject to the effects of natural selection and evolution. Evolutionary psychologists seek to understand cognitive processes, religion in this case, by understanding the survival and reproductive functions they might serve.
  • 785
  • 17 Nov 2022
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