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Topic Review
Conditional Liver-Specific Gene Expression System
Hydrodynamics-based gene delivery (HGD) is an efficient method for transfecting hepatocytes with plasmid DNA in vivo, but always associated with transient and non-tissue-specific expression of a gene of interest (GOI). piggyBac (PB) transposon system enables chromosomal integration of GOIs, and as a result long-term expression of GOI is possible. In this study, we combined these two technologies to enable liver-specific expression of GOI for a long time. Mice are first subjected to HGD with a PB transposase expression plasmid and a PB transposon containing the GOIs placed downstream of the stopper sequence flanked by loxP. When the same mice are next subjected to HGD with a liver-directed Cre expression plasmid, Cre-mediated excision of loxP-flanked stopper sequence in the chromosomally integrated transposon and subsequent expression of GOIs occur. This Cre/loxP-based regulatable gene switching system together with combined used of HGD and PB will be useful for in situ manipulation of hepatocyte genome in non-transgenic animals.
  • 960
  • 29 Oct 2020
Topic Review
Terminal Osseous Dysplasia
Terminal osseous dysplasia is a disorder primarily involving skeletal abnormalities and certain skin changes. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, frontometaphyseal dysplasia, and Melnick-Needles syndrome. In general, these disorders involve hearing loss caused by malformations in tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers or toes (digits), although not every condition in the spectrum has all of these features.  
  • 960
  • 23 Dec 2020
Topic Review
Developmental and Epileptic Encephalopathy 1
Developmental and epileptic encephalopathy 1 (DEE1) is a seizure disorder characterized by a type of seizure known as infantile spasms. The spasms usually appear before the age of 1.
  • 960
  • 24 Dec 2020
Topic Review
Factor V Deficiency
Factor V deficiency is a rare bleeding disorder.
  • 960
  • 25 Dec 2020
Topic Review
FXN Gene
Frataxin
  • 960
  • 25 Dec 2020
Topic Review
Strategies for Folate Biofortification in Soybean
Folate (vitamin B9) is an essential water-soluble vitamin in plants and microorganisms that plays a role in one-carbon metabolism. It functions as a cofactor in the synthesis of nucleic acids, metabolism of amino acids, and methylation of hormones, lipids, proteins, and chlorophyll. Folate is particularly important for cell division in pregnant and lactating women. However, humans cannot synthesise folate de novo and must obtain it from dietary sources, such as crops, animal-based foods, or nutritional supplements. 
  • 960
  • 31 Jan 2023
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.
  • 959
  • 24 Dec 2020
Topic Review
Cone-Rod Dystrophy
Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.
  • 959
  • 24 Dec 2020
Topic Review
POU3F4 Gene
POU class 3 homeobox 4
  • 959
  • 25 Dec 2020
Topic Review
TMPRSS6 Gene
Transmembrane serine protease 6: The TMPRSS6 gene provides instructions for making a protein called matriptase-2.
  • 959
  • 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.
  • 959
  • 04 Jan 2021
Topic Review
Gestational Diabetes
Gestational diabetes is a disorder characterized by abnormally high blood sugar levels during pregnancy.
  • 958
  • 12 Jan 2021
Topic Review
Otulipenia
Otulipenia is characterized by abnormal inflammation throughout the body.
  • 958
  • 24 Dec 2020
Topic Review
Baller-Gerold Syndrome
Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands.
  • 958
  • 24 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.
  • 958
  • 24 Dec 2020
Topic Review
ACTG2 Gene
actin, gamma 2, smooth muscle, enteric
  • 958
  • 24 Dec 2020
Topic Review
GCDH Gene
Glutaryl-CoA dehydrogenase
  • 958
  • 25 Dec 2020
Topic Review
PNPLA6 Gene
patatin like phospholipase domain containing 6
  • 958
  • 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. 
  • 958
  • 25 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.
  • 957
  • 24 Dec 2020
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