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Topic Review
CYP21A2 Gene
Cytochrome P450 Family 21 Subfamily A Member 2
  • 724
  • 23 Dec 2020
Topic Review
DARS2 Gene
Aspartyl-tRNA Synthetase 2, Mitochondrial: The DARS2 gene provides instructions for making an enzyme called mitochondrial aspartyl-tRNA synthetase. 
  • 724
  • 23 Dec 2020
Topic Review
Costello Syndrome
Costello syndrome is a disorder that affects many parts of the body. This condition is characterized by delayed development and intellectual disability, loose folds of skin (which are especially noticeable on the hands and feet), unusually flexible joints, and distinctive facial features including a large mouth with full lips. Heart problems are common, including an abnormal heartbeat (arrhythmia), structural heart defects, and a type of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). Infants with Costello syndrome may be larger than average at birth, but most have difficulty feeding and grow more slowly than other children. People with this condition have relatively short stature and may have reduced growth hormone levels. Other signs and symptoms of Costello syndrome can include tight Achilles tendons (which connect the calf muscles to the heel), weak muscle tone (hypotonia), a structural abnormality of the brain called a Chiari I malformation, skeletal abnormalities, dental problems, and problems with vision.
  • 724
  • 24 Dec 2020
Topic Review
STAMBP Gene
STAM binding protein: The STAMBP gene provides instructions for making a protein called STAM binding protein.
  • 723
  • 22 Dec 2020
Topic Review
GLUT1 Deficiency Syndrome
GLUT1 deficiency syndrome is a disorder affecting the nervous system that can have a variety of neurological signs and symptoms.
  • 723
  • 23 Dec 2020
Topic Review
IDH1 Gene
Isocitrate dehydrogenase (NADP(+)) 1, cytosolic
  • 723
  • 23 Dec 2020
Topic Review
Junctional Epidermolysis Bullosa
Junctional epidermolysis bullosa (JEB) is a major form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily.
  • 723
  • 23 Dec 2020
Topic Review
CYP24A1 Gene
Cytochrome P450 Family 24 Subfamily A Member 1
  • 723
  • 23 Dec 2020
Topic Review
Neuromyelitis Optica
Neuromyelitis optica is an autoimmune disorder that affects the nerves of the eyes and the central nervous system, which includes the brain and spinal cord. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. In neuromyelitis optica, the autoimmune attack causes inflammation of the nerves, and the resulting damage leads to the signs and symptoms of the condition.
  • 723
  • 23 Dec 2020
Topic Review
FKBP10 Gene
FKBP prolyl isomerase 10
  • 723
  • 25 Dec 2020
Topic Review
GALNT3 Gene
Polypeptide N-acetylgalactosaminyltransferase 3
  • 723
  • 25 Dec 2020
Topic Review
PITX2 Gene
paired like homeodomain 2
  • 723
  • 25 Dec 2020
Topic Review
LCAT Gene
Lecithin-cholesterol acyltransferase
  • 722
  • 23 Dec 2020
Topic Review
Achromatopsia
Achromatopsia is a condition characterized by a partial or total absence of color vision. People with complete achromatopsia cannot perceive any colors; they see only black, white, and shades of gray. Incomplete achromatopsia is a milder form of the condition that allows some color discrimination.
  • 722
  • 23 Dec 2020
Topic Review
WNT5A Gene
Wnt family member 5A: The WNT5A gene is part of a large family of WNT genes, which play critical roles in development starting before birth. These genes provide instructions for making proteins that participate in chemical signaling pathways in the body.
  • 722
  • 24 Dec 2020
Topic Review
DOCK8 Immunodeficiency Syndrome
DOCK8 immunodeficiency syndrome is a disorder of the immune system. The condition is characterized by recurrent infections that are severe and can be life-threatening. The infections can be caused by bacteria, viruses, or fungi. Skin infections cause rashes, blisters, accumulations of pus (abscesses), open sores, and scaling. People with DOCK8 immunodeficiency syndrome also tend to have frequent bouts of pneumonia and other respiratory tract infections. Other immune system-related problems in people with DOCK8 immunodeficiency syndrome include an inflammatory skin disorder called eczema, food or environmental allergies, and asthma.
  • 722
  • 24 Dec 2020
Topic Review
SMARCA4 Gene
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
  • 722
  • 24 Dec 2020
Topic Review
FOXC1 Gene
Forkhead box C1
  • 722
  • 25 Dec 2020
Topic Review
Spinocerebellar Ataxia Type 2
Spinocerebellar ataxia type 2 (SCA2) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA2 include additional movement problems, speech and swallowing difficulties, and weakness in the muscles that control eye movement (ophthalmoplegia). Eye muscle weakness leads to involuntary back-and-forth eye movements (nystagmus) and a decreased ability to make rapid eye movements (saccadic slowing).  
  • 721
  • 23 Dec 2020
Topic Review
DVL1 Gene
Dishevelled Segment Polarity Protein 1
  • 721
  • 24 Dec 2020
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