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Topic Review
Alopecia Areata
Alopecia areata is a common disorder that causes hair loss. "Alopecia" is a Latin term that means baldness, and "areata" refers to the patchy nature of the hair loss that is typically seen with this condition.
  • 1.0K
  • 24 Dec 2020
Topic Review
ACTA2 Gene
actin, alpha 2, smooth muscle, aorta
  • 1.0K
  • 24 Dec 2020
Topic Review
PLCB4 Gene
phospholipase C beta 4
  • 1.0K
  • 25 Dec 2020
Topic Review
PML Gene
promyelocytic leukemia
  • 1.0K
  • 25 Dec 2020
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
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
BCR Gene
BCR, RhoGEF and GTPase activating protein
  • 1.0K
  • 24 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
Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer)
Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer (HNPCC), is an autosomal dominant genetic disorder associated with an increased lifetime risk of developing colorectal cancer (CRC) (30–73%), endometrial carcinoma (EC) (30–51%) and, less frequently, other malignancies such as gastric, ovarian, urinary tract, pancreatic, small bowel, biliary tract, brain, and skin sebaceous cancers.
  • 1.0K
  • 27 Mar 2023
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
TGM5 Gene
Transglutaminase 5: The TGM5 gene provides instructions for making an enzyme called transglutaminase 5. 
  • 1.0K
  • 25 Dec 2020
Topic Review
PNP Gene
purine nucleoside phosphorylase
  • 1.0K
  • 25 Dec 2020
Topic Review
Rapid-Onset Dystonia Parkinsonism
Rapid-onset dystonia parkinsonism is a rare movement disorder.
  • 1.0K
  • 24 Dec 2020
Topic Review
CRB1 Gene
crumbs 1, cell polarity complex component
  • 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
YWHAE Gene
Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
  • 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
Diamond-Blackfan Anemia
Diamond-Blackfan anemia is a disorder that primarily affects the bone marrow. People with this condition often also have physical abnormalities affecting various parts of the body.
  • 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
WAS Gene
Wiskott-Aldrich syndrome is characterized by abnormal immune system function (immune deficiency), eczema (an inflammatory skin disorder characterized by abnormal patches of red, irritated skin), and a reduced ability to form blood clots. This condition primarily affects males.
  • 1.0K
  • 24 Dec 2020
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