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Topic Review
PFKM Gene
phosphofructokinase, muscle
  • 883
  • 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. 
  • 883
  • 25 Oct 2021
Topic Review
Recent Advances in Syndactyly
Syndactyly (SD) is a congenital digital malformation characterized by webbing of the fingers and toes. Syndactyly is derived from the Greek word “syn”, meaning together, and “dactylos”, meaning digits. It is one of the most common hereditary limb disorders, with a prevalence of 3–10 in every 10,000 births, although higher estimates in the range of 10–40/10,000 have been reported.
  • 883
  • 24 Jun 2022
Topic Review
Genetic Markers in Lung Cancer
Lung cancer is the most often diagnosed cancer in the world and the most frequent cause of cancer death. The prognosis for lung cancer is relatively poor and 75% of patients are diagnosed at its advanced stage. The currently used diagnostic tools are not sensitive enough and do not enable diagnosis at the early stage of the disease. Therefore, searching for new methods of early and accurate diagnosis of lung cancer is crucial for its effective treatment. Lung cancer is the result of multistage carcinogenesis with gradually increasing genetic and epigenetic changes. Screening for the characteristic genetic markers could enable the diagnosis of lung cancer at its early stage. Better understanding of lung cancer carcinogenesis and possibilities of novel molecular strategies and techniques in the identification of lung cancer genetic markers is crucial for lung cancer diagnosis at its early-stage, as well as for therapeutic decision making.
  • 882
  • 02 Jul 2020
Topic Review
CYP2C19 Gene
Cytochrome P450 Family 2 Subfamily C Member 19
  • 882
  • 23 Dec 2020
Topic Review
PAX2 Gene
paired box 2
  • 882
  • 25 Dec 2020
Topic Review
PDGFRA Gene
platelet derived growth factor receptor alpha
  • 882
  • 25 Dec 2020
Topic Review
Retrospective Genetic Analysis in Sweet Watermelon
Understanding the genetic basis of a crop’s qualitative and quantitative traits is vital to designing market preferred varieties. Sweet watermelon [Citrullus lanatus (Thunb.) Matsum. and Nakai var. lanatus; 2n = 2x = 22] is an important cucurbit crop belonging to the family Cucurbitaceae of the genus Citrullus. 
  • 882
  • 21 Jul 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. 
  • 882
  • 03 Feb 2023
Topic Review
Sturge-Weber Syndrome
Sturge-Weber syndrome is a condition that affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes from birth. Sturge-Weber syndrome has three major features: a red or pink birthmark called a port-wine birthmark, a brain abnormality called a leptomeningeal angioma, and increased pressure in the eye (glaucoma). These features can vary in severity and not all individuals with Sturge-Weber syndrome have all three features.  
  • 881
  • 23 Dec 2020
Topic Review
Isolated Lissencephaly Sequence
Isolated lissencephaly sequence (ILS) is a condition that affects brain development before birth.
  • 881
  • 23 Dec 2020
Topic Review
CXCR4 Gene
C-X-C Motif Chemokine Receptor 4
  • 881
  • 23 Dec 2020
Topic Review
Familial HDL Deficiency
Familial HDL deficiency is a condition characterized by low levels of high-density lipoprotei% (HDL) in the blood.
  • 881
  • 25 Dec 2020
Topic Review
PAFAH1B1 Gene
platelet activating factor acetylhydrolase 1b regulatory subunit 1
  • 881
  • 25 Dec 2020
Topic Review
Deafness-dystonia-optic Neuronopathy Syndrome
Deafness-dystonia-optic neuronopathy (DDON) syndrome, also known as Mohr-Tranebjærg syndrome, is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems. This condition occurs almost exclusively in males.
  • 880
  • 24 Dec 2020
Topic Review
Primary Familial Brain Calcification
Primary familial brain calcification is a condition characterized by abnormal deposits of calcium (calcification) in blood vessels within the brain. These calcium deposits are visible only on medical imaging and typically occur in the basal ganglia, which are structures deep within the brain that help start and control movement of the body. Other brain regions may also be affected.
  • 880
  • 24 Dec 2020
Topic Review
CACNA1F Gene
calcium voltage-gated channel subunit alpha1 F
  • 879
  • 24 Dec 2020
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).
  • 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
TUBB3 Gene
Tubulin beta 3 class III.
  • 878
  • 23 Dec 2020
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