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Topic Review
LPL Gene
Lipoprotein lipase
  • 1.0K
  • 04 Jan 2021
Topic Review
Pyruvate Kinase Deficiency
Pyruvate kinase deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues.
  • 1.0K
  • 23 Mar 2021
Topic Review
Congenital Sucrase-Isomaltase Deficiency
Congenital sucrase-isomaltase deficiency is a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose.
  • 1.0K
  • 24 Dec 2020
Topic Review
OPRM1 Gene
opioid receptor mu 1
  • 1.0K
  • 24 Dec 2020
Topic Review
PIGV Gene
phosphatidylinositol glycan anchor biosynthesis class V
  • 1.0K
  • 25 Dec 2020
Topic Review
Fukuyama Congenital Muscular Dystrophy
Fukuyama congenital muscular dystrophy is an inherited condition that predominantly affects the muscles, brain, and eyes. Congenital muscular dystrophies are a group of genetic conditions that cause muscle weakness and wasting (atrophy) beginning very early in life.
  • 1.0K
  • 24 Dec 2020
Topic Review
Glucose-Galactose Malabsorption
Glucose-galactose malabsorption is a condition in which the body cannot take in (absorb) the sugars glucose and galactose, which primarily results in severe diarrhea.
  • 1.0K
  • 23 Dec 2020
Topic Review
NCF1 Gene
neutrophil cytosolic factor 1
  • 1.0K
  • 23 Dec 2020
Topic Review
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome is a condition characterized by abnormal electrical pathways in the heart that cause a disruption of the heart's normal rhythm (arrhythmia).  
  • 1.0K
  • 24 Dec 2020
Topic Review
CF aerosol related cellular models
The respiratory epithelium can be affected by many diseases that could be treated using aerosol gene therapy. Among these, cystic fibrosis (CF) is a lethal inherited disease characterized by airways complications, which determine the life expectancy and the effectiveness of aerosolized treatments. Beside evaluations performed under in vivo settings, cell culture models mimicking in vivo pathophysiological conditions can provide complementary insights into the potential of gene transfer strategies. Such models must consider multiple parameters, following the rationale that proper gene transfer evaluations depend on whether they are performed under experimental conditions close to pathophysiological settings. In addition, the mucus layer, which covers the epithelial cells, constitutes a physical barrier for gene delivery, especially in diseases such as CF. Artificial mucus models featuring physical and biological properties similar to CF mucus allow determining the ability of gene transfer systems to effectively reach the underlying epithelium.
  • 1.0K
  • 14 Jan 2021
Topic Review
X-linked Acrogigantism
X-linked acrogigantism (X-LAG) is a condition that causes abnormally fast growth beginning early in life. Babies with this condition are a normal size at birth but begin to grow rapidly in infancy or early childhood, and affected children are taller than their peers.  
  • 999
  • 24 Dec 2020
Topic Review
Lysosomal Storage Disorders Linked to Impaired Autophagy
Lysosomes are the main organelles responsible for the degradation of macromolecules in eukaryotic cells. Beyond their fundamental role in degradation, lysosomes are involved in different physiological processes such as autophagy, nutrient sensing, and intracellular signaling. In some circumstances, lysosomal abnormalities underlie several human pathologies with different etiologies known as Lysosomal Storage Disorders (LSDs). These disorders can result from deficiencies in primary lysosomal enzymes, dysfunction of lysosomal enzyme activators, alterations in modifiers that impact lysosomal function, or changes in membrane-associated proteins, among other factors. 
  • 999
  • 10 Jan 2024
Topic Review
HMERF
Hereditary myopathy with early respiratory failure (HMERF) is an inherited disease that affects muscles used for movement (skeletal muscles) and muscles that are needed for breathing (respiratory muscles).
  • 998
  • 23 Dec 2020
Topic Review
Hemophilia
Hemophilia is a bleeding disorder that slows the blood clotting process.
  • 998
  • 23 Dec 2020
Topic Review
2q37 Deletion Syndrome
2q37 deletion syndrome is a condition that can affect many parts of the body. Most babies with 2q37 deletion syndrome are born with weak muscle tone (hypotonia), which usually improves with age. Other neurological abnormalities that are common in affected individuals include mild to severe intellectual disability; delayed development of motor skills, such as sitting and walking; and behavioral problems. About 25 percent of people with this condition have autism spectrum disorder, a developmental condition that affects communication and social interaction.
  • 998
  • 23 Dec 2020
Topic Review
NOG Gene
noggin
  • 998
  • 24 Dec 2020
Topic Review
Pendred Syndrome
Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called a goiter.
  • 998
  • 24 Dec 2020
Topic Review
Vaccination under COVID-19 Pandemic
The current COVID-19 pandemic, caused by severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2), has raised significant economic, social, and psychological concerns. The rapid spread of the virus, coupled with the absence of vaccines and antiviral treatments for SARS-CoV-2, has galvanized a major global endeavor to develop effective vaccines. Within a matter of just a few months of the initial outbreak, research teams worldwide, adopting a range of different strategies, embarked on a quest to develop effective vaccine that could be effectively used to suppress this virulent pathogen. 
  • 998
  • 08 Feb 2021
Topic Review
The Supersymmetry Genetic Code table
The full set of relationship between 61 codons and 3 stop signals that specify the 20 naturals amino acids is called the genetic code. The fundamental role of symmetry in the genetic code is to decrease disorder (entropy) between codons and to preserve the integrity of system during evolution.
  • 998
  • 04 Feb 2024
Topic Review
PURA Syndrome
PURA syndrome is a condition characterized by intellectual disability and delayed development of speech and motor skills, such as walking.
  • 998
  • 24 Dec 2020
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