Your browser does not fully support modern features. Please upgrade for a smoother 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
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. 
  • 978
  • 25 Feb 2021
Topic Review
GFAP Gene
Glial fibrillary acidic protein: The GFAP gene provides instructions for making a protein called glial fibrillary acidic protein. 
  • 978
  • 25 Dec 2020
Topic Review
Uncombable Hair Syndrome
Uncombable hair syndrome is a condition that is characterized by dry, frizzy hair that cannot be combed flat. 
  • 976
  • 23 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.
  • 976
  • 24 Dec 2020
Topic Review
F2 Gene
Coagulation factor II, thrombin
  • 976
  • 24 Dec 2020
Topic Review
TMPRSS6 Gene
Transmembrane serine protease 6: The TMPRSS6 gene provides instructions for making a protein called matriptase-2.
  • 976
  • 25 Dec 2020
Topic Review
Fumarase Deficiency
Fumarase deficiency is a condition that primarily affects the nervous system, especially the brain.
  • 975
  • 24 Dec 2020
Topic Review
Brooke-Spiegler Syndrome
Brooke-Spiegler syndrome is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as sweat glands and hair follicles. People with Brooke-Spiegler syndrome may develop several types of tumors, including growths called spiradenomas, trichoepitheliomas, and cylindromas. Spiradenomas develop in sweat glands. Trichoepitheliomas arise from hair follicles. The origin of cylindromas has been unclear; while previously thought to derive from sweat glands, they are now generally believed to begin in hair follicles. The tumors associated with Brooke-Spiegler syndrome are generally noncancerous (benign), but occasionally they may become cancerous (malignant). Affected individuals are also at increased risk of developing tumors in tissues other than skin appendages, particularly benign or malignant tumors of the salivary glands.
  • 975
  • 24 Dec 2020
Topic Review
Familial Dysautonomia
Familial dysautonomia is a genetic disorder that affects the development and survival of certain nerve cells. The disorder disturbs cells in the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature. It also affects the sensory nervous system, which controls activities related to the senses, such as taste and the perception of pain, heat, and cold. Familial dysautonomia is also called hereditary sensory and autonomic neuropathy, type III.
  • 975
  • 25 Dec 2020
Topic Review
ADCY5-related Dyskinesia
ADCY5-related dyskinesia is a movement disorder; the term "dyskinesia" refers to abnormal involuntary movements. The abnormal movements that occur in ADCY5-related dyskinesia typically appear as sudden (paroxysmal) jerks, twitches, tremors, muscle tensing (dystonia), or writhing (choreiform) movements, and can affect the limbs, neck, and face.
  • 974
  • 23 Dec 2020
Topic Review
Oculofaciocardiodental Syndrome
Oculofaciocardiodental (OFCD) syndrome is a condition that affects the development of the eyes (oculo-), facial features (facio-), heart (cardio-) and teeth (dental). This condition occurs only in females.
  • 974
  • 24 Dec 2020
Topic Review
Otulipenia
Otulipenia is characterized by abnormal inflammation throughout the body.
  • 974
  • 24 Dec 2020
Topic Review
Craniofacial Phenotypes and Genetics of DiGeorge Syndrome
TBX1, located on chromosome 22q11.21, encodes a T-box transcription factor and is a candidate gene for DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). Studies of Tbx1-mutant mice have provided insights into the underlying pathogenesis of DGS/VCFS and the knowledge to diagnose patients with DGS/VCFS. Genes, miRNAs, and epigenetics could change Tbx1 expression. Polymorphisms, variations, and mutations in TBX1 may induce the penetrance and severity of DGS/VCFS-like craniofacial phenotypes. The molecular basis of the variant sequence of TBX1 will further define how TBX1 contributes to the craniofacial and other phenotypes of DGS/VCFS. Since interactions with TBX1 and other molecules in transcriptional complexes or chromatin remodeling are crucial for TBX1 function, identifying and understanding these genetic and epigenetic modifiers individually for each patient may direct therapeutics to minimize the severity.
  • 974
  • 27 May 2022
Topic Review
Glutaric Acidemia Type I
Glutaric acidemia type I (also called glutaric aciduria type I) is an inherited disorder in which the body is unable to process certain proteins properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids.
  • 974
  • 23 Dec 2020
Topic Review
Gestational Diabetes
Gestational diabetes is a disorder characterized by abnormally high blood sugar levels during pregnancy.
  • 973
  • 12 Jan 2021
Topic Review
APP Gene
amyloid beta precursor protein
  • 973
  • 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.
  • 973
  • 24 Dec 2020
Topic Review
Potential Biomarkers of Metastasizing Paragangliomas and Pheochromocytomas
Paragangliomas and pheochromocytomas (PPGLs) are rare neuroendocrine tumors formed from paraganglionic tissue. Since 2017, PPGLs have been classified as tumors with variable potential to metastasize. Metastasizing PPGLs are usually difficult to diagnose and require evidence of regional or distant metastasis. Data on diagnostic and prognostic molecular markers for PPGL malignancy are limited, and many of the proposed factors remain controversial. There is a significant gap in the understanding of tumor pathogenesis, as well as the treatment and management of patients with PPGLs. This entry summarized the current findings on the potential markers for distinguishing between metastasizing and benign tumors, as well as on the prediction of aggressive behavior of PPGLs, especially of those localized in the head and neck region.
  • 973
  • 11 Nov 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.
  • 972
  • 29 Oct 2020
Topic Review
FECH Gene
Ferrochelatase: The FECH gene provides instructions for making an enzyme known as ferrochelatase. 
  • 972
  • 25 Dec 2020
  • Page
  • of
  • 135
Featured Entry Collections
>>

Featured Reprints

>>
Encyclopedia of Digital Society, Industry 5.0 and Smart City
Encyclopedia of Engineering
Encyclopedia of Social Sciences
Encyclopedia of Medieval Royal Iconography
Academic Video Service
Feedback