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Topic Review
MyD88 Deficiency
MyD88 deficiency is an inherited disorder of the immune system (primary immunodeficiency).
  • 897
  • 23 Dec 2020
Topic Review
Loeys-Dietz Syndrome
Loeys-Dietz syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, and blood vessels.
  • 897
  • 24 Dec 2020
Topic Review
Coats Plus Syndrome
Coats plus syndrome is an inherited condition characterized by an eye disorder called Coats disease plus abnormalities of the brain, bones, gastrointestinal system, and other parts of the body.
  • 897
  • 24 Dec 2020
Topic Review
Biotin-Thiamine-Responsive Basal Ganglia Disease
Biotin-thiamine-responsive basal ganglia disease is a disorder that affects the nervous system, including a group of structures in the brain called the basal ganglia, which help control movement. As its name suggests, the condition may improve if the vitamins biotin and thiamine are given as treatment. Without early and lifelong vitamin treatment, people with biotin-thiamine-responsive basal ganglia disease experience a variety of neurological problems that gradually get worse. The occurrence of specific neurological problems and their severity vary even among affected individuals within the same family.
  • 897
  • 24 Dec 2020
Topic Review
Dubin-Johnson Syndrome
Dubin-Johnson syndrome is a condition characterized by jaundice, which is a yellowing of the skin and whites of the eyes. In most affected people jaundice appears during adolescence or early adulthood. 
  • 897
  • 24 Dec 2020
Topic Review
Fanconi Anemia
Fanconi anemia is a condition that affects many parts of the body. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers.
  • 897
  • 25 Dec 2020
Topic Review
ARSACS
Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known as ARSACS, is a condition affecting muscle movement. People with ARSACS typically have abnormal tensing of the muscles (spasticity), problems with balance and coordination (cerebellar ataxia), and reduced sensation and weakness in the arms and legs (peripheral neuropathy).
  • 897
  • 04 Jan 2021
Topic Review
Parkes Weber Syndrome
Parkes Weber syndrome is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood back to the heart; and capillaries, which are tiny blood vessels that connect arteries and veins.
  • 897
  • 24 Dec 2020
Topic Review
TGFB1 Gene
transforming growth factor beta 1
  • 896
  • 25 Dec 2020
Topic Review
Epigenetic Aspects of Rare Diseases
Epigenetics plays an important role in pathogenicity since it regulates basic cellular functions, such as gene expression, DNA damage, chromatin topology, and chromosomal organization. Rare diseases affect more than 300 million people worldwide.
  • 896
  • 05 Aug 2022
Topic Review
ATP6V1B1 Gene
ATPase H+ transporting V1 subunit B1
  • 895
  • 24 Dec 2020
Topic Review
CAV1 Gene
caveolin 1
  • 895
  • 24 Dec 2020
Topic Review
Peters Anomaly
Peters anomaly is characterized by eye problems that occur in an area at the front part of the eye known as the anterior segment.
  • 895
  • 24 Dec 2020
Topic Review
AIRE Gene
autoimmune regulator
  • 895
  • 24 Dec 2020
Topic Review
GBA Gene
Glucosylceramidase beta
  • 895
  • 25 Dec 2020
Topic Review
Frontotemporal Ddementia with Parkinsonism-17
Frontotemporal dementia with parkinsonism-17 (FTDP-17) is a brain disorder. It is part of a group of conditions, called frontotemporal dementia or frontotemporal degeneration, that are characterized by a loss of nerve cells (neurons) in areas of the brain called the frontal and temporal lobes. Over time, a loss of these cells can affect personality, behavior, language, and movement.
  • 894
  • 25 Dec 2020
Topic Review
Primary Carnitine Deficiency
Primary carnitine deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy.
  • 893
  • 24 Dec 2020
Topic Review
Expression and Regulation of INPP5D in  Alzheimer’s Disease
Alzheimer’s disease (AD) is the most common form of dementia, accounting for approximately 38.5 million cases of all-cause dementia. Microglial cells, the innate immune cells of the central nervous system (CNS), have long been established as guardians of the brain by providing neuroprotection and maintaining cellular homeostasis. A protein with a myriad of effects on various important signaling pathways that is expressed in microglia is the Src Homology 2 (SH2) domain-containing Inositol 5′ Phosphatase 1 (SHIP1) protein. Encoded by the INPP5D (Inositol Polyphosphate-5-Phosphatase D) gene, SHIP1 has diminutive effects on most microglia signaling processes. Polymorphisms of the INPP5D gene have been found to be associated with a significantly increased risk of AD.
  • 893
  • 09 Oct 2023
Topic Review
Genetic Comparison of SCA Cohorts
Genetic analysis of admixed populations raises special concerns with regard to study design and data processing, particularly to avoid population stratification biases. The point mutation responsible for sickle cell anaemia codes for a variant hemoglobin, sickle hemoglobin or HbS, whose presence drives the pathophysiology of disease. 
  • 892
  • 25 Dec 2020
Topic Review
Sjögren Syndrome
Sjögren syndrome is a disorder whose main features are dry eyes and a dry mouth. The condition typically develops gradually beginning in middle adulthood, but it can occur at any age.
  • 891
  • 25 Dec 2020
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