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Topic Review
Kleefstra Syndrome
Kleefstra syndrome is a disorder that involves many parts of the body. Characteristic features of Kleefstra syndrome include developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone (hypotonia).
  • 963
  • 23 Dec 2020
Topic Review
Periventricular Heterotopia
Periventricular heterotopia is a condition in which nerve cells (neurons) do not migrate properly during the early development of the fetal brain, from about the 6th week to the 24th week of pregnancy.
  • 963
  • 24 Dec 2020
Topic Review
New Gene Origination in a Special Fish Lineage
Origin of new genes are of inherent interest of evolutionary geneticists for decades, but few studies have addressed general pattern of origin of new genes in a fish lineage. Flatfishes evolved one of the most specialized and asymmetric body plans in vertebrates. Providing recent released whole genome data that well represent ingroup and outgroup species, 1541 flatfish-lineage-specific genes were identified with the synteny-based pipeline. The origination pattern of these flatfish new genes is largely similar to those observed in other vertebrates, and they were mainly originated through DNA-mediated duplication, with some RNA-mediated duplication (retrogenes) or de novo genes.
  • 963
  • 25 Nov 2021
Topic Review
ACTG2 Gene
actin, gamma 2, smooth muscle, enteric
  • 962
  • 24 Dec 2020
Topic Review
Dihydropyrimidinase Deficiency
Dihydropyrimidinase deficiency is a disorder that can cause neurological and gastrointestinal problems in some affected individuals. Other people with dihydropyrimidinase deficiency have no signs or symptoms related to the disorder, and in these individuals the condition can be diagnosed only by laboratory testing.
  • 962
  • 24 Dec 2020
Topic Review
GCDH Gene
Glutaryl-CoA dehydrogenase
  • 962
  • 25 Dec 2020
Topic Review
PNPLA6 Gene
patatin like phospholipase domain containing 6
  • 962
  • 25 Dec 2020
Topic Review
TOR1A Gene
Torsin family 1 member A: The TOR1A gene (also known as DYT1) provides instructions for making a protein called torsinA. 
  • 962
  • 25 Dec 2020
Topic Review
Bone Morphogenetic Protein Receptor 2
Bone Morphogenetic Protein Receptor 2 (BMPR2) are the most common genetic factor in hereditary forms of PAH, suggesting that the BMPR2 pathway is fundamentally important in the pathogenesis
  • 962
  • 22 Apr 2021
Topic Review
Kaufman Oculocerebrofacial Syndrome
Kaufman oculocerebrofacial syndrome is a disorder characterized by eye problems (oculo-), intellectual disability (-cerebro-), and a distinctive pattern of facial features (-facial).
  • 961
  • 23 Dec 2020
Topic Review
Cornelia de Lange Syndrome
Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body. The features of this disorder vary widely among affected individuals and range from relatively mild to severe.
  • 961
  • 24 Dec 2020
Topic Review
PIK3R1 Gene
phosphoinositide-3-kinase regulatory subunit 1
  • 961
  • 25 Dec 2020
Topic Review
PNPLA3 Gene
patatin like phospholipase domain containing 3
  • 961
  • 25 Dec 2020
Topic Review
TSC1 Gene
TSC complex subunit 1: The TSC1 gene provides instructions for producing a protein called hamartin, whose function is not fully understood. 
  • 961
  • 25 Dec 2020
Topic Review
CBAS1
Congenital bile acid synthesis defect type 1 is a disorder characterized by cholestasis, a condition that impairs the production and release of a digestive fluid called bile from liver cells. Bile is used during digestion to absorb fats and fat-soluble vitamins, such as vitamins A, D, E, and K. People with congenital bile acid synthesis defect type 1 cannot produce (synthesize) bile acids, which are a component of bile that stimulate bile flow and help it absorb fats and fat-soluble vitamins. As a result, an abnormal form of bile is produced.
  • 961
  • 04 Jan 2021
Topic Review
MicroRNAs-Based Therapeutic Strategies in TNBC
Triple Negative breast cancer is unresponsive to endocrine therapy, i.e., tamoxifen, aromatase inhibitors, and/or anti-HER2-targeted therapies. As there are currently no other therapeutic options to treat TNBC apart from chemotherapy, various studies were reviewed to draw the conclusion that ncRNAs might be candidates for drug development and drug resistance. Targeted approaches to epigenetic mechanisms and clarification of the molecular mechanisms of specific miRNAs in TNBC subtypes are fully justified. Currently, TNBC with BLP is the only subtype for which we might suggest some therapeutic hypotheses based on miRNA/mRNA integration. This review might provide a collection of biomarkers potentially useful in clinical settings and shows that the combination of miRNA-based therapeutic strategies with conventional therapies might synergize anticancer effects improving patient outcome. 
  • 961
  • 16 Nov 2020
Topic Review
Aromatic l-amino Acid Decarboxylase Deficiency
Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited disorder that affects the way signals are passed between certain cells in the nervous system.
  • 960
  • 24 Dec 2020
Topic Review
Cleidocranial Dysplasia
Cleidocranial dysplasia is a condition that primarily affects development of the bones and teeth. Signs and symptoms of cleidocranial dysplasia can vary widely in severity, even within the same family.
  • 960
  • 24 Dec 2020
Topic Review
Autosomal Recessive Primary Microcephaly
Autosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly primary hereditary") is a condition in which infants are born with a very small head and a small brain. The term "microcephaly" comes from the Greek words for "small head."
  • 960
  • 24 Dec 2020
Topic Review
Essential Tremor
Essential tremor is a movement disorder that causes involuntary, rhythmic shaking (tremor), especially in the hands. It is distinguished from tremor that results from other disorders or known causes, such as Parkinson disease or head trauma. Essential tremor usually occurs alone, without other neurological signs or symptoms. However, some experts think that essential tremor can include additional features, such as mild balance problems.
  • 960
  • 25 Dec 2020
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