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Topic Review
Systemic Scleroderma
Systemic scleroderma is an autoimmune disorder that affects the skin and internal organs. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. The word "scleroderma" means hard skin in Greek, and the condition is characterized by the buildup of scar tissue (fibrosis) in the skin and other organs. The condition is also called systemic sclerosis because the fibrosis can affect organs other than the skin. Fibrosis is due to the excess production of a tough protein called collagen, which normally strengthens and supports connective tissues throughout the body.  
  • 830
  • 23 Dec 2020
Topic Review
Leukoencephalopathy with Vanishing White Matter
Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the brain and spinal cord (central nervous system).
  • 830
  • 24 Dec 2020
Topic Review
Paroxysmal Extreme Pain Disorder
Paroxysmal extreme pain disorder is a condition characterized by skin redness and warmth (flushing) and attacks of severe pain in various parts of the body.
  • 830
  • 24 Dec 2020
Topic Review
Dowling-Degos Disease
Dowling-Degos disease is a skin condition characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body's folds and creases. These skin changes typically first appear in the armpits and groin area and can later spread to other skin folds such as the crook of the elbow, back of the knee, and under the breasts. Less commonly, pigmentation changes can also occur on the neck, wrists, back of the hands, face, scalp, scrotum, and vulva. These areas of hyperpigmentation typically cause no health problems.
  • 830
  • 24 Dec 2020
Topic Review
SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
  • 830
  • 24 Dec 2020
Topic Review
TPO Gene
Thyroid peroxidase: The TPO gene provides instructions for making an enzyme called thyroid peroxidase.
  • 830
  • 25 Dec 2020
Topic Review
Own stem Rust Resistance Genes in Bread Wheat
Stem rust is one wheat’s most dangerous fungal diseases. Yield losses caused by stem rust have been significant enough to cause famine in the past. Resistance genes are considered to be the most rational environment-friendly and widely used way to control the spread of stem rust and prevent yield losses. More than 60 genes conferring resistance against stem rust have been discovered (so-called Sr genes).
  • 830
  • 01 Nov 2022
Topic Review
MLYCD Gene
malonyl-CoA decarboxylase
  • 829
  • 22 Dec 2020
Topic Review
Ichthyosis with Confetti
Ichthyosis with confetti is a disorder of the skin. Individuals with this condition are born with red, scaly skin all over the body, which can be itchy in some people.
  • 829
  • 23 Dec 2020
Topic Review
WRN Gene
Werner syndrome RecQ like helicase: the WRN gene provides instructions for producing the Werner protein, which plays a critical role in repairing damaged DNA. The Werner protein functions as a type of enzyme called a helicase.
  • 829
  • 24 Dec 2020
Topic Review
Pulmonary Veno-occlusive Disease
Pulmonary veno-occlusive disease (PVOD) is characterized by the blockage (occlusion) of the blood vessels that carry oxygen-rich (oxygenated) blood from the lungs to the heart (the pulmonary veins).
  • 829
  • 24 Dec 2020
Topic Review
Autosomal Dominant Hypocalcemia
Autosomal dominant hypocalcemia is characterized by low levels of calcium in the blood (hypocalcemia). Affected individuals can have an imbalance of other molecules in the blood as well, including too much phosphate (hyperphosphatemia) or too little magnesium (hypomagnesemia). Some people with autosomal dominant hypocalcemia also have low levels of a hormone called parathyroid hormone (hypoparathyroidism). This hormone is involved in the regulation of calcium levels in the blood. Abnormal levels of calcium and other molecules in the body can lead to a variety of signs and symptoms, although about half of affected individuals have no associated health problems.
  • 829
  • 24 Dec 2020
Topic Review
PITX1 Gene
paired like homeodomain 1
  • 829
  • 25 Dec 2020
Topic Review
AMN Gene
amnion associated transmembrane protein
  • 827
  • 24 Dec 2020
Topic Review
TREX1 Gene
Three prime repair exonuclease 1: The TREX1 gene provides instructions for making the 3-prime repair exonuclease 1 enzyme.
  • 827
  • 25 Dec 2020
Topic Review
Histone Modification and Cancer
The nucleosome is the basic unit of chromatin. It is an octamer composed of 4 core histones (H3, H4, H2A, H2B), including one H3-H4 tetramer and two H2A-H2B dimers, surrounded by 147 pairs of DNA base pairs. The core histones form a spherical core particle, and their N-terminal tails are free from the core particle, which helps the modification occur. Posttranslational modifications (PTMs) are involved in a variety of cellular processes, such as transcription, DNA damage, apoptosis, and cell cycle regulation. Mass spectrometry is a powerful tool for finding and verifying histone PTMs.
  • 826
  • 22 Mar 2023
Topic Review
Developing Genomic Resources for Crop Improvement
The emerging sequencing technologies target generating more data with fewer inputs and at lower costs. This has also translated to an increase in the number and type of corresponding applications in genomics besides enhanced computational capacities (both hardware and software). Alongside the evolving DNA sequencing landscape, bioinformatics research teams have also evolved to accommodate the increasingly demanding techniques used to combine and interpret data, leading to many researchers moving from the lab to the computer. 
  • 826
  • 07 Nov 2023
Topic Review
Crigler-Najjar Syndrome
Crigler-Najjar syndrome is a severe condition characterized by high levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down. This substance is removed from the body only after it undergoes a chemical reaction in the liver, which converts the toxic form of bilirubin (called unconjugated bilirubin) to a nontoxic form called conjugated bilirubin. People with Crigler-Najjar syndrome have a buildup of unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia).
  • 825
  • 24 Dec 2020
Topic Review
ZAP70-related Severe Combined Immunodeficiency
ZAP70-related severe combined immunodeficiency (SCID) is an inherited disorder that damages the immune system.
  • 825
  • 24 Dec 2020
Topic Review
Danon Disease
Danon disease is a condition characterized by weakening of the heart muscle (cardiomyopathy); weakening of the muscles used for movement, called skeletal muscles, (myopathy); and intellectual disability. Males with Danon disease usually develop the condition earlier than females and are more severely affected. Signs and symptoms begin in childhood or adolescence in most affected males and in early adulthood in most affected females. Affected males, on average, live to age 19, while affected females live to an average age of 34.
  • 825
  • 24 Dec 2020
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