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Topic Review
COG4 Gene
component of oligomeric golgi complex 4
  • 866
  • 19 Apr 2021
Topic Review
POLH Gene
DNA polymerase eta
  • 866
  • 25 Dec 2020
Topic Review
Duckweed Species in Saudi Arabia
Duckweeds, or Lemnaceae, are widespread aquatic plants. Morphology-based identification of duckweed species is difficult because of their structural complexity. Hence, molecular tools provide significant advantages for characterizing and selecting species or clones for sustainable commercial use.
  • 866
  • 18 Nov 2021
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.
  • 866
  • 13 Mar 2023
Topic Review
Up-Frameshift Protein 1 in Human Disorders
Up-frameshift protein 1 (UPF1) plays the role of a vital controller for transcripts, ready to react in the event of an incorrect translation mechanism. It is well known as one of the key elements involved in mRNA decay pathways and participates in transcript and protein quality control in several different aspects. Firstly, UPF1 specifically degrades premature termination codon (PTC)-containing products in a nonsense-mediated mRNA decay (NMD)-coupled manner. Additionally, UPF1 can potentially act as an E3 ligase and degrade target proteins independently from mRNA decay pathways. Thus, UPF1 protects cells against the accumulation of misfolded polypeptides. However, this multitasking protein may still hide many of its functions and abilities.
  • 866
  • 18 May 2023
Topic Review
ClC-1 Chloride Channel Structure and Myotonia-Causing Mutations Update
Myotonia congenita is a hereditary muscle disease mainly characterized by muscle hyperexcitability, which leads to a sustained burst of discharges that correlates with the magnitude and duration of involuntary aftercontractions, muscle stiffness, and hypertrophy. Mutations in the chloride voltage-gated channel 1 (CLCN1) gene that encodes the skeletal muscle chloride channel (ClC-1) are responsible for this disease, which is commonly known as myotonic chloride channelopathy. The structure of the channel has been updated and the biophysical properties of the mutated channel have been explored and analyzed, providing important clues to the general function/dysfunction of the wild-type and mutated channels.
  • 866
  • 02 Nov 2023
Topic Review
Aicardi-Goutières Syndrome
Aicardi-Goutières syndrome is a disorder that mainly affects the brain, the immune system, and the skin.
  • 866
  • 24 Dec 2020
Topic Review
Leber Congenital Amaurosis
Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning in infancy. The visual impairment tends to be stable, although it may worsen very slowly over time.
  • 865
  • 23 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.
  • 865
  • 24 Dec 2020
Topic Review
FOLR1 Gene
Folate receptor 1
  • 865
  • 25 Dec 2020
Topic Review
Globozoospermia
Globozoospermia is a condition that affects only males. It is characterized by abnormal sperm and leads to an inability to father biological children (infertility).
  • 865
  • 23 Dec 2020
Topic Review
BMPR2 Gene
bone morphogenetic protein receptor type 2
  • 864
  • 24 Dec 2020
Topic Review
Beta-Ureidopropionase Deficiency
Beta-ureidopropionase deficiency is a disorder that causes excessive amounts of molecules called N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine to be released in the urine. Neurological problems ranging from mild to severe also occur in some affected individuals.
  • 864
  • 24 Dec 2020
Topic Review
STXBP1 Encephalopathy
STXBP1 encephalopathy is a condition characterized by abnormal brain function (encephalopathy) and intellectual disability. Most affected individuals also have recurrent seizures (epilepsy).
  • 864
  • 24 Dec 2020
Topic Review
Peutz-Jeghers Syndrome
Peutz-Jeghers syndrome is characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines) and a greatly increased risk of developing certain types of cancer.
  • 864
  • 24 Dec 2020
Topic Review
Schinzel-Giedion Syndrome
Schinzel-Giedion syndrome is a severe condition that is apparent at birth and affects many body systems.
  • 864
  • 24 Dec 2020
Topic Review
FBN1 Gene
Fibrillin 1: The FBN1 gene provides instructions for making a large protein called fibrillin-1. 
  • 864
  • 25 Dec 2020
Topic Review
TG Gene
Thyroglobulin: The TG gene provides instructions for making a protein called thyroglobulin, one of the largest proteins in the body. 
  • 864
  • 25 Dec 2020
Topic Review
FGF23 Gene
Fibroblast growth factor 23
  • 864
  • 04 Jan 2021
Topic Review
Genotype-Phenotype Correlations
Coffin-Siris syndrome (CSS, MIM 135900) is a multi-system intellectual disability syndrome characterized by classic dysmorphic features, developmental delays, and organ system anomalies. Genes in the BRG1(BRM)-associated factors (BAF, Brahma associated factor) complex have been shown to be causative, including ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SOX11, and SOX4.
  • 864
  • 19 Jul 2021
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