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Topic Review
SLC22A12 Gene
solute carrier family 22 member 12
  • 689
  • 24 Dec 2020
Topic Review
Non-Canonical RNAi in Mucorales Virulence
Mortality rates of mucormycosis can reach up to 90%, due to the mucoralean antifungal drug resistance and the lack of effective therapies. Non-canonical RNAi pathway (NCRIP) regulates the expression of mRNAs by degrading them in a specific manner. Its mechanism binds dsRNA but only cuts ssRNA. NCRIP exhibits a diversity of functional roles. It represses the epimutational pathway and the lack of NCRIP increases the generation of drug resistant strains. NCRIP also regulates the control of retrotransposons expression, playing an essential role in genome stability. 
  • 689
  • 29 Jun 2021
Topic Review
HADH Gene
Hydroxyacyl-CoA dehydrogenase
  • 688
  • 22 Dec 2020
Topic Review
ITGB4 Gene
Integrin subunit beta 4
  • 688
  • 23 Dec 2020
Topic Review
KANK2 Gene
KN motif and ankyrin repeat domains 2
  • 688
  • 23 Dec 2020
Topic Review
Combined Oxidative Phosphorylation Deficiency 1
Combined oxidative phosphorylation deficiency 1 is a severe condition that primarily impairs neurological and liver function.
  • 688
  • 24 Dec 2020
Topic Review
Multiple Epiphyseal Dysplasia
Multiple epiphyseal dysplasia is a disorder of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of multiple epiphyseal dysplasia, which can be distinguished by their pattern of inheritance. Both the dominant and recessive types have relatively mild signs and symptoms, including joint pain that most commonly affects the hips and knees, early-onset arthritis, and a waddling walk. Although some people with multiple epiphyseal dysplasia have mild short stature as adults, most are of normal height. The majority of individuals are diagnosed during childhood; however, some mild cases may not be diagnosed until adulthood.
  • 687
  • 23 Dec 2020
Topic Review
ANKH Gene
ANKH inorganic pyrophosphate transport regulator
  • 687
  • 24 Dec 2020
Topic Review
SLC34A1 Gene
solute carrier family 34 member 1
  • 687
  • 24 Dec 2020
Topic Review
HNF4A Gene
Hepatocyte nuclear factor 4 alpha
  • 686
  • 23 Dec 2020
Topic Review
CAVIN1 Gene
caveolae associated protein 1
  • 686
  • 24 Dec 2020
Topic Review
Spastic Paraplegia Type 15
Spastic paraplegia type 15 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Spastic paraplegia type 15 is classified as a complex hereditary spastic paraplegia because it involves all four limbs as well as additional features, including abnormalities of the brain. In addition to the muscles and brain, spastic paraplegia type 15 affects the peripheral nervous system, which consists of nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound.  
  • 685
  • 23 Dec 2020
Topic Review
MT-TH Gene
mitochondrially encoded tRNA histidine
  • 685
  • 23 Dec 2020
Topic Review
ISCU Gene
Iron-sulfur cluster assembly enzyme
  • 685
  • 23 Dec 2020
Topic Review
CYP7B1 Gene
Cytochrome P450 Family 7 Subfamily B Member 1
  • 685
  • 23 Dec 2020
Topic Review
DNMT1 Gene
DNA Methyltransferase 1: The DNMT1 gene provides instructions for making an enzyme called DNA methyltransferase 1. 
  • 685
  • 24 Dec 2020
Topic Review
COL4A1 Gene
collagen type IV alpha 1 chain
  • 685
  • 24 Dec 2020
Topic Review
Genetics in Maturity-Onset Diabetes of the Young
Diabetes is a heterogeneous group of metabolic disorders, defined by persistent hyperglycemia due to both defects in insulin secretion and action, culminating in abnormal glucose metabolism with lifelong micro- and macro-vascular complications that develop from chronic hyperglycemia. It constitutes a significant cause of social, psychological, and financial burdens, along with an increased overall risk of premature death. Diabetes with early-onset hyperglycemia diagnosed in a patient under 25 years old, with an autosomal dominant transmission with at least three affected generations, a partially conserved pancreatic β-cell function, and the absence of autoantibodies are the characteristics of maturity-onset diabetes of the young (MODY). This subtype of genetically transmitted diabetes is suspected to be the most frequent type of monogenic diabetes, with a prevalence of 21–45 in 1,000,000 children and 100 patients in 1,000,000 individuals. Fourteen subtypes of MODY were identified and are currently acknowledged. 
  • 685
  • 23 Nov 2022
Topic Review
ATP6V0A4 Gene
ATPase H+ transporting V0 subunit a4
  • 684
  • 24 Dec 2020
Topic Review
Ghosal Hematodiaphyseal Dysplasia
Ghosal hematodiaphyseal dysplasia is a rare inherited condition characterized by abnormally thick bones and a shortage of red blood cells (anemia). Signs and symptoms of the condition become apparent in early childhood.
  • 683
  • 23 Dec 2020
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