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Topic Review
BICD2 Gene
BICD cargo adaptor 2
  • 873
  • 24 Dec 2020
Topic Review
GALC Gene
Galactosylceramidase: The GALC gene provides instructions for making an enzyme called galactosylceramidase. 
  • 873
  • 25 Dec 2020
Topic Review
CELF Family Proteins in Cancer
CELF (CUGBP Elav-like family) proteins are RBPs (RNA-binding proteins) with pleiotropic capabilities in RNA processing. Their responsibilities extend from alternative splicing and transcript editing in the nucleus to mRNA stability, and translation into the cytoplasm. In this way, CELF family members have been connected to global alterations in cancer proliferation and invasion, leading to their identification as potential tumor suppressors or even oncogenes. Notably, genetic variants, alternative splicing, phosphorylation, acetylation, subcellular distribution, competition with other RBPs, and ultimately lncRNAs, miRNAs, and circRNAs all impact CELF regulation. 
  • 873
  • 25 Oct 2021
Topic Review
Mismatch Repair Genes in Lynch Syndrome
Hereditary non-polyposis colorectal cancer is also known as Lynch syndrome. Lynch syndrome is associated with pathogenetic variants in one of the mismatch repair (MMR) genes.
  • 873
  • 28 Dec 2022
Topic Review
Metagenomic Approach and Lichen Molecules Linked to Genes
Lichen secondary metabolites have tremendous pharmaceutical and industrial potential. Although more than 1000 metabolites have been reported from lichens, less than 10 have been linked to the genes coding them. Biosynthetic research focuses strongly on linking molecules to genes as this is fundamental to adapting the molecule for industrial application. Metagenomic-based gene discovery, which bypasses the challenges associated with culturing an organism, is a promising way forward to link secondary metabolites to genes in non-model, difficult-to-culture organisms. 
  • 873
  • 03 Feb 2023
Topic Review
Medium-Chain Acyl-CoA Dehydrogenase Deficiency
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).
  • 872
  • 23 Dec 2020
Topic Review
Glycogen Storage Disease Type VII
Glycogen storage disease type VII (GSDVII) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells.
  • 872
  • 23 Dec 2020
Topic Review
Alpha-1 Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver disease. The signs and symptoms of the condition and the age at which they appear vary among individuals.
  • 872
  • 24 Dec 2020
Topic Review
PDHA1 Gene
pyruvate dehydrogenase E1 alpha 1 subunit
  • 872
  • 25 Dec 2020
Topic Review
Maternally Inherited Diabetes and Deafness
Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin, which regulates the amount of sugar in the blood. In MIDD, the diabetes and hearing loss usually develop in mid-adulthood, although the age that they occur varies from childhood to late adulthood. Typically, hearing loss occurs before diabetes.
  • 871
  • 23 Dec 2020
Topic Review
Hereditary Spherocytosis
Hereditary spherocytosis is a condition that affects red blood cells.
  • 871
  • 23 Dec 2020
Topic Review
APOB Gene
apolipoprotein B
  • 871
  • 24 Dec 2020
Topic Review
Anauxetic Dysplasia
Anauxetic dysplasia is a disorder characterized by extremely short stature (dwarfism) and other skeletal abnormalities, an unusually large range of joint movement (hypermobility), dental problems, and distinctive facial features. Mild intellectual disability can also occur in this disorder.
  • 871
  • 24 Dec 2020
Topic Review
SALL1 Gene
spalt like transcription factor 1
  • 871
  • 24 Dec 2020
Topic Review
EARS2 Gene
Glutamyl-tRNA Synthetase 2, Mitochondrial
  • 871
  • 24 Dec 2020
Topic Review
SLC35A2-Congenital Disorder of Glycosylation
SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG, formerly known as congenital disorder of glycosylation type IIm) is an inherited condition that causes neurological problems and other abnormalities. This disorder's signs and symptoms and their severity vary among affected individuals.
  • 871
  • 24 Dec 2020
Topic Review
GABRA1 Gene
Gamma-aminobutyric acid type A receptor alpha1 subunit
  • 871
  • 25 Dec 2020
Topic Review
Familial Cylindromatosis
Familial cylindromatosis is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as hair follicles and sweat glands. People with familial cylindromatosis typically develop large numbers of tumors called cylindromas. While previously thought to derive from sweat glands, cylindromas are now generally believed to begin in hair follicles.
  • 871
  • 25 Dec 2020
Topic Review
RYR2 Gene
ryanodine receptor 2
  • 870
  • 24 Dec 2020
Topic Review
BAP1 Gene
BRCA1 associated protein 1
  • 870
  • 24 Dec 2020
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