You're using an outdated browser. Please upgrade to a modern browser for the best experience.
Subject:
All Disciplines Arts & Humanities Biology & Life Sciences Business & Economics Chemistry & Materials Science Computer Science & Mathematics Engineering Environmental & Earth Sciences Medicine & Pharmacology Physical Sciences Public Health & Healthcare Social Sciences
Sort by:
Most Viewed Latest Alphabetical (A-Z) Alphabetical (Z-A)
Filter:
All Topic Review Biography Peer Reviewed Entry Video Entry
Topic Review
GFAP Gene
Glial fibrillary acidic protein: The GFAP gene provides instructions for making a protein called glial fibrillary acidic protein. 
  • 954
  • 25 Dec 2020
Topic Review
Alpha 1-Antitrypsin
Alpha-1 antitrypsin (AAT) is a protein produced by the liver and released into the blood. As a known genetic cause of chronic obstructive pulmonary disease (COPD), alpha1-antitrypsin deficiency (AATD) can cause severe respiratory problems at a relatively young age. These problems are caused by decreased or absent levels of alpha1-antitrypsin (AAT), an antiprotease which is primarily functional in the respiratory system. If the levels of AAT fall below the protective threshold of 11 µM, the neutrophil-derived serine proteases neutrophil elastase (NE) and proteinase 3 (PR3), which are targets of AAT, are not sufficiently inhibited, resulting in excessive degradation of the lung parenchyma, increased inflammation, and increased susceptibility to infections. Because other therapies are still in the early phases of development, the only therapy currently available for AATD is AAT augmentation therapy. The controversy surrounding AAT augmentation therapy concerns its efficiency, as protection of lung function decline is not demonstrated, despite the treatment’s proven significant effect on lung density change in the long term. 
  • 954
  • 25 Feb 2021
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.
  • 953
  • 29 Oct 2020
Topic Review
APP Gene
amyloid beta precursor protein
  • 953
  • 24 Dec 2020
Topic Review
Ankylosing Spondylitis
Ankylosing spondylitis is a form of ongoing joint inflammation (chronic inflammatory arthritis) that primarily affects the spine. This condition is characterized by back pain and stiffness that typically appear in adolescence or early adulthood. Over time, back movement gradually becomes limited as the bones of the spine (vertebrae) fuse together. This progressive bony fusion is called ankylosis.
  • 953
  • 24 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.
  • 953
  • 24 Dec 2020
Topic Review
ACTG2 Gene
actin, gamma 2, smooth muscle, enteric
  • 953
  • 24 Dec 2020
Topic Review
Atelosteogenesis Type 3
Atelosteogenesis type 3 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Their hands and feet are wide, with broad fingers and toes that may be permanently bent (camptodactyly) or fused together (syndactyly). Characteristic facial features include a broad forehead, wide-set eyes (hypertelorism), and an underdeveloped nose. About half of affected individuals have an opening in the roof of the mouth (a cleft palate.)
  • 952
  • 24 Dec 2020
Topic Review
Otulipenia
Otulipenia is characterized by abnormal inflammation throughout the body.
  • 952
  • 24 Dec 2020
Topic Review
PNPLA6 Gene
patatin like phospholipase domain containing 6
  • 952
  • 25 Dec 2020
Topic Review
TMPRSS6 Gene
Transmembrane serine protease 6: The TMPRSS6 gene provides instructions for making a protein called matriptase-2.
  • 952
  • 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. 
  • 952
  • 25 Dec 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.  
  • 951
  • 23 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.
  • 951
  • 24 Dec 2020
Topic Review
POU3F4 Gene
POU class 3 homeobox 4
  • 951
  • 25 Dec 2020
Topic Review
TSHR Gene
thyroid stimulating hormone receptor
  • 950
  • 23 Dec 2020
Topic Review
Gestational Diabetes
Gestational diabetes is a disorder characterized by abnormally high blood sugar levels during pregnancy.
  • 950
  • 12 Jan 2021
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.
  • 950
  • 24 Dec 2020
Topic Review
PIK3R1 Gene
phosphoinositide-3-kinase regulatory subunit 1
  • 950
  • 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. 
  • 950
  • 31 Jan 2023
  • Page
  • of
  • 135
Featured Entry Collections
>>

Featured Books

>>
Encyclopedia of COVID-19
Encyclopedia of Engineering
Encyclopedia of Social Sciences
Encyclopedia of Digital Society, Industry 5.0 and Smart City
Academic Video Service
Feedback