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Topic Review
TGIF1 Gene
TGFB induced factor homeobox 1: The TGIF1 gene provides instructions for making a protein called TG-interacting factor. This protein is important for normal development of the front part of the brain (forebrain).
  • 881
  • 25 Dec 2020
Topic Review
Drug Resistance of Colon Carcinoma
Drug resistance is one of the major forces driving a poor prognosis during the treatment and progression of human colon carcinomas. The molecular mechanisms that regulate the diverse processes underlying drug resistance are still under debate. MicroRNAs (miRNAs) are a subgroup of non-coding RNAs increasingly found to be associated with the regulation of tumorigenesis and drug resistance.
  • 881
  • 08 Sep 2021
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.
  • 880
  • 23 Dec 2020
Topic Review
CACNA1F Gene
calcium voltage-gated channel subunit alpha1 F
  • 880
  • 24 Dec 2020
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.
  • 880
  • 28 Dec 2022
Topic Review
TUBB3 Gene
Tubulin beta 3 class III.
  • 879
  • 23 Dec 2020
Topic Review
Cytochrome P450 Oxidoreductase Deficiency
Cytochrome P450 oxidoreductase deficiency is a disorder of hormone production. This condition specifically affects steroid hormones, which are needed for normal development and reproduction. The hormonal changes associated with cytochrome P450 oxidoreductase deficiency can affect the development of the reproductive system, skeleton, and other parts of the body. These signs and symptoms are usually present at birth or become apparent in early childhood.
  • 879
  • 24 Dec 2020
Topic Review
PDHA1 Gene
pyruvate dehydrogenase E1 alpha 1 subunit
  • 879
  • 25 Dec 2020
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).
  • 878
  • 23 Dec 2020
Topic Review
Tyrosine Hydroxylase Deficiency
Tyrosine hydroxylase (TH) deficiency is a disorder that primarily affects movement, with symptoms that may range from mild to severe.  
  • 878
  • 23 Dec 2020
Topic Review
ATM Gene
ATM serine/threonine kinase
  • 878
  • 24 Dec 2020
Topic Review
Congenital Leptin Deficiency
Congenital leptin deficiency is a condition that causes severe obesity beginning in the first few months of life.
  • 878
  • 24 Dec 2020
Topic Review
BICD2 Gene
BICD cargo adaptor 2
  • 878
  • 24 Dec 2020
Topic Review
GALC Gene
Galactosylceramidase: The GALC gene provides instructions for making an enzyme called galactosylceramidase. 
  • 878
  • 25 Dec 2020
Topic Review
Non-Invasive Genetic Assessment in Wildlife Research
Genetic and genomic analyses are powerful tools in wildlife research. They might be able to yield the same information on, e.g., population size, health, or diet composition as other wildlife research methods, and even provide additional data that would not be possible to obtain by alternative means. If genetic material is obtained non-invasively, this approach might have no or only minimal impact on animal welfare. Noninvasive genetic sampling sensu lato is defined as "obtaining DNA without affecting the physical integrity of the animal through puncturing the skin or other entry into the body".
  • 878
  • 04 Nov 2021
Topic Review
Hereditary Spherocytosis
Hereditary spherocytosis is a condition that affects red blood cells.
  • 877
  • 23 Dec 2020
Topic Review
SALL1 Gene
spalt like transcription factor 1
  • 877
  • 24 Dec 2020
Topic Review
Craniofrontonasal Syndrome
Craniofrontonasal syndrome is a rare condition characterized by the premature closure of certain bones of the skull (craniosynostosis) during development, which affects the shape of the head and face. The condition is named for the areas of the body that are typically affected: the skull (cranio-), face (fronto-), and nose (nasal).
  • 877
  • 24 Dec 2020
Topic Review
GABRA1 Gene
Gamma-aminobutyric acid type A receptor alpha1 subunit
  • 877
  • 25 Dec 2020
Topic Review
Mitochondrial DNA of Physarum polycephalum
The mtDNA of the myxomycete Physarum polycephalum can contain as many as 81 genes. These genes can be grouped in three different categories. The first category includes 46 genes that are classically found on the mtDNA of many organisms. A second category of gene is putative protein-coding genes represented by 26 significant open reading frames. The third category of gene is found in the mtDNA of some strains of P. polycephalum. These genes derive from a linear mitochondrial plasmid with nine significant, but unassigned, open reading frames which can integrate into the mitochondrial DNA by recombination.
  • 877
  • 13 Mar 2023
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