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Topic Review
CLN10 Disease
CLN10 disease is a severe disorder that primarily affects the nervous system. Individuals with this condition typically show signs and symptoms soon after birth. These signs and symptoms can include muscle rigidity, respiratory failure, and prolonged episodes of seizure activity that last several minutes (status epilepticus). It is likely that some affected individuals also have seizures before birth while in the womb. Infants with CLN10 disease have unusually small heads (microcephaly) with brains that may be less than half the normal size. There is a loss of brain cells in areas that coordinate movement (the cerebellum) and control thinking and emotions (the cerebral cortex). Nerve cells in the brain also lack a fatty substance called myelin, which protects them and promotes efficient transmission of nerve impulses. Infants with CLN10 disease often die hours to weeks after birth.
  • 699
  • 24 Dec 2020
Topic Review
CIITA Gene
class II major histocompatibility complex transactivator
  • 699
  • 24 Dec 2020
Topic Review
COL11A1 Gene
collagen type XI alpha 1 chain
  • 699
  • 24 Dec 2020
Topic Review
Microbiota-Induced Epigenetic Alterations in Depressive Disorders
Major depressive disorder (MDD) is a complex disorder and a leading cause of disability in 280 million people worldwide. Many environmental factors, such as microbes, drugs, and diet, are involved in the pathogenesis of depressive disorders.
  • 699
  • 09 Jan 2024
Topic Review
PURA Gene
purine rich element binding protein A
  • 698
  • 23 Dec 2020
Topic Review
CAVIN1 Gene
caveolae associated protein 1
  • 698
  • 24 Dec 2020
Topic Review
LIMK1 Gene
LIM domain kinase 1
  • 697
  • 23 Dec 2020
Topic Review
CACNA1D Gene
calcium voltage-gated channel subunit alpha1 D
  • 697
  • 24 Dec 2020
Topic Review
Hereditary Folate Malabsorption
Hereditary folate malabsorption is a disorder that interferes with the body's ability to absorb certain B vitamins (called folates) from food. Folates are important for many cell functions, including the production of DNA and its chemical cousin, RNA.
  • 696
  • 23 Dec 2020
Topic Review
SLC22A12 Gene
solute carrier family 22 member 12
  • 696
  • 24 Dec 2020
Topic Review
Otospondylomegaepiphyseal Dysplasia
Otospondylomegaepiphyseal dysplasia (OSMED) is a condition characterized by skeletal abnormalities, distinctive facial features, and severe hearing loss.
  • 695
  • 24 Dec 2020
Topic Review
Oxidative-Stress-Sensitive microRNAs in UV-Promoted Development of Melanoma
Exposure to ultraviolet (UV) rays from the sun is one of the most important modifiable risk factors for skin cancer. Melanoma is the most life-threatening type of skin cancer. UV-induced DNA damage and oxidative stress represent two main mechanisms that, directly and indirectly, contribute to melanomagenesis. 
  • 695
  • 22 Jul 2022
Topic Review
HADH Gene
Hydroxyacyl-CoA dehydrogenase
  • 694
  • 22 Dec 2020
Topic Review
SLC34A1 Gene
solute carrier family 34 member 1
  • 694
  • 24 Dec 2020
Topic Review
Hidradenitis Suppurativa
Hidradenitis suppurativa, also known as acne inversa, is a chronic skin disease characterized by recurrent boil-like lumps (nodules) under the skin.
  • 693
  • 23 Dec 2020
Topic Review
ETV6 Gene
ETS variant 6
  • 693
  • 24 Dec 2020
Topic Review
Spastic Paraplegia Type 15
Spastic paraplegia type 15 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Spastic paraplegia type 15 is classified as a complex hereditary spastic paraplegia because it involves all four limbs as well as additional features, including abnormalities of the brain. In addition to the muscles and brain, spastic paraplegia type 15 affects the peripheral nervous system, which consists of nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound.  
  • 692
  • 23 Dec 2020
Topic Review
MT-TH Gene
mitochondrially encoded tRNA histidine
  • 692
  • 23 Dec 2020
Topic Review
MYBPC3 Gene
myosin binding protein C, cardiac
  • 692
  • 23 Dec 2020
Topic Review
ISCU Gene
Iron-sulfur cluster assembly enzyme
  • 692
  • 23 Dec 2020
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