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Topic Review
Pompe Disease
Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.
  • 1.0K
  • 04 Jan 2021
Topic Review
NcRNAs in Human Diseases
The mammalian genome comprehends a small minority of genes that encode for proteins (barely 2% of the total genome in humans) and an immense majority of genes that are transcribed into RNA but not encoded for proteins (ncRNAs). These non-coding genes are intimately related to the expression regulation of protein-coding genes. The ncRNAs subtypes differ in their size, so there are long non-coding genes (lncRNAs) and other smaller ones, like microRNAs (miRNAs) and piwi-interacting RNAs (piRNAs). Due to their important role in the maintenance of cellular functioning, any deregulation of the expression profiles of these ncRNAs can dissemble in the development of different types of diseases, such as cancer, neurodegenerative, or cardiovascular disorders.
  • 1.0K
  • 16 Mar 2021
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. 
  • 1.0K
  • 10 Jan 2024
Topic Review
Fuchs Endothelial Dystrophy
Fuchs endothelial dystrophy is a condition that causes vision problems. The first symptom of this condition is typically blurred vision in the morning that usually clears during the day. Over time, affected individuals lose the ability to see details (visual acuity). People with Fuchs endothelial dystrophy also become sensitive to bright lights.
  • 1.0K
  • 23 Dec 2020
Topic Review
Histidinemia
Histidinemia is an inherited condition characterized by elevated blood levels of the amino acid histidine, a building block of most proteins. Histidinemia is caused by the shortage (deficiency) of the enzyme that breaks down histidine. Histidinemia typically causes no health problems, and most people with elevated histidine levels are unaware that they have this condition.
  • 1.0K
  • 23 Dec 2020
Topic Review
Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher disease is an inherited condition involving the brain and spinal cord (central nervous system) that primarily affects males.
  • 1.0K
  • 24 Dec 2020
Topic Review
Fibrochondrogenesis
Fibrochondrogenesis is a very severe disorder of bone growth. Affected infants have a very narrow chest, which prevents the lungs from developing normally. Most infants with this condition are stillborn or die shortly after birth from respiratory failure. However, some affected individuals have lived into childhood.
  • 1.0K
  • 25 Dec 2020
Topic Review
PML Gene
promyelocytic leukemia
  • 1.0K
  • 25 Dec 2020
Topic Review
COMT Gene
catechol-O-methyltransferase
  • 1.0K
  • 24 Dec 2020
Topic Review
CRB1 Gene
crumbs 1, cell polarity complex component
  • 1.0K
  • 24 Dec 2020
Topic Review
BCR Gene
BCR, RhoGEF and GTPase activating protein
  • 1.0K
  • 24 Dec 2020
Topic Review
Modeling Human Cardiac Arrhythmias: Insights from Zebrafish
Cardiac arrhythmia, or irregular heart rhythm, is associated with morbidity and mortality and is described as one of the most important future public health challenges. In the last few decades, the zebrafish has emerged as an attractive model to reproduce in vivo human cardiac pathologies, including arrhythmias. As genetic tools in zebrafish continue to bloom, this model will be crucial for functional genomics studies and to develop personalized anti-arrhythmic therapies.
  • 1.0K
  • 21 Jan 2022
Topic Review
Winchester Syndrome
Winchester syndrome is a rare inherited disease characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet.
  • 1.0K
  • 24 Dec 2020
Topic Review
Dihydrolipoamide Dehydrogenase Deficiency
Dihydrolipoamide dehydrogenase deficiency is a severe condition that can affect several body systems. Signs and symptoms of this condition usually appear shortly after birth, and they can vary widely among affected individuals.
  • 1.0K
  • 24 Dec 2020
Topic Review
Adenosine Deaminase Deficiency
Adenosine deaminase (ADA) deficiency is an inherited disorder that damages the immune system and causes severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system.
  • 1.0K
  • 24 Dec 2020
Topic Review
Rapid-Onset Dystonia Parkinsonism
Rapid-onset dystonia parkinsonism is a rare movement disorder.
  • 1.0K
  • 24 Dec 2020
Topic Review
PNP Gene
purine nucleoside phosphorylase
  • 1.0K
  • 25 Dec 2020
Topic Review
Cytogenetically Normal Acute Myeloid Leukemia
Cytogenetically normal acute myeloid leukemia (CN-AML) is one form of a cancer of the blood-forming tissue (bone marrow) called acute myeloid leukemia. In normal bone marrow, early blood cells called hematopoietic stem cells develop into several types of blood cells: white blood cells (leukocytes) that protect the body from infection, red blood cells (erythrocytes) that carry oxygen, and platelets (thrombocytes) that are involved in blood clotting. In acute myeloid leukemia, the bone marrow makes large numbers of abnormal, immature white blood cells called myeloid blasts. Instead of developing into normal white blood cells, the myeloid blasts develop into cancerous leukemia cells. The large number of abnormal cells in the bone marrow interferes with the production of functional white blood cells, red blood cells, and platelets.
  • 1.0K
  • 24 Dec 2020
Topic Review
Pfeiffer Syndrome
Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet.
  • 1.0K
  • 24 Dec 2020
Topic Review
ACTA2 Gene
actin, alpha 2, smooth muscle, aorta
  • 1.0K
  • 24 Dec 2020
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