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Topic Review
Infantile-Onset Ascending Hereditary Spastic Paralysis
Infantile-onset ascending hereditary spastic paralysis is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and eventual paralysis of the lower limbs (paraplegia).
  • 770
  • 23 Dec 2020
Topic Review
Acrocallosal Syndrome
Acrocallosal syndrome is a rare condition characterized by a brain abnormality called agenesis of the corpus callosum, the presence of extra fingers and toes (polydactyly), and distinctive facial features. The signs and symptoms of this disorder are present at birth, and their severity varies widely among affected individuals.
  • 770
  • 23 Dec 2020
Topic Review
Arginase Deficiency
Arginase deficiency is an inherited disorder that causes the amino acid arginine (a building block of proteins) and ammonia to accumulate gradually in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.
  • 770
  • 24 Dec 2020
Topic Review
SDHB Gene
succinate dehydrogenase complex iron sulfur subunit B
  • 770
  • 24 Dec 2020
Topic Review
Familial Pityriasis Rubra Pilaris
Familial pityriasis rubra pilaris is a rare genetic condition that affects the skin. The name of the condition reflects its major features: The term "pityriasis" refers to scaling; "rubra" means redness; and "pilaris" suggests the involvement of hair follicles in this disorder. Affected individuals have a salmon-colored skin rash covered in fine scales. This rash occurs in patches all over the body, with distinct areas of unaffected skin between the patches. Affected individuals also develop bumps called follicular keratoses that occur around hair follicles. The skin on the palms of the hands and soles of the feet often becomes thick, hard, and callused, a condition known as palmoplantar keratoderma.
  • 770
  • 25 Dec 2020
Topic Review
Bietti Crystalline Dystrophy
Bietti crystalline dystrophy is a disorder in which numerous small, yellow or white crystal-like deposits of fatty (lipid) compounds accumulate in the light-sensitive tissue that lines the back of the eye (the retina). The deposits damage the retina, resulting in progressive vision loss.
  • 770
  • 24 Dec 2020
Topic Review
EHMT1 Gene
Euchromatic histone lysine methyltransferase 1: The EHMT1 gene provides instructions for making an enzyme called euchromatic histone methyltransferase 1. 
  • 770
  • 24 Dec 2020
Topic Review
SIDDT
Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a rare condition that is fatal in the first year of life; its major features include abnormalities of the reproductive system in males, feeding difficulties, and breathing problems.  
  • 769
  • 23 Dec 2020
Topic Review
Mitochondrial Neurogastrointestinal Encephalopathy Disease
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is a condition that affects several parts of the body, particularly the digestive system and nervous system. The major features of MNGIE disease can appear anytime from infancy to adulthood, but signs and symptoms most often begin by age 20. The medical problems associated with this disorder worsen with time.
  • 769
  • 23 Dec 2020
Topic Review
Renal Tubular Dysgenesis
Renal tubular dysgenesis is a severe kidney disorder characterized by abnormal development of the kidneys before birth.
  • 769
  • 24 Dec 2020
Topic Review
Novel Splicing Variant in Acylglycerol Kinase
Mitochondrial functional integrity depends on protein and lipid homeostasis in the mitochondrial membranes and disturbances in their accumulation can cause disease. AGK, a mitochondrial acylglycerol kinase, is not only involved in lipid signaling but is also a component of the TIM22 complex in the inner mitochondrial membrane, which mediates the import of a subset of membrane proteins.
  • 769
  • 13 Jan 2022
Topic Review
Null cyp1b1 Activity in Zebrafish
CYP1B1 is a cytochrome P450 monooxygenase involved in oxidative metabolism of different endogenous lipids and drugs. The loss of function (LoF) of this gene underlies many cases of recessive primary congenital glaucoma (PCG), an infrequent disease and a common cause of infantile loss of vision in children. CYP1B1 loss of function (LoF) is the main known genetic alteration present in recessive primary congenital glaucoma (PCG), an infrequent disease characterized by delayed embryonic development of the ocular iridocorneal angle; however, the underlying molecular mechanisms are poorly understood.
  • 769
  • 04 Aug 2021
Topic Review
SLC11A2 Gene
solute carrier family 11 member 2
  • 769
  • 24 Dec 2020
Topic Review
STAT3 Gene
Signal transducer and activator of transcription 3: The STAT3 gene is part of a family known as the STAT genes. These genes provide instructions for making proteins that are part of essential chemical signaling pathways within cells. 
  • 768
  • 22 Dec 2020
Topic Review
UBE3A Gene
Ubiquitin protein ligase E3A.
  • 768
  • 23 Dec 2020
Topic Review
Amish Lethal Microcephaly
Amish lethal microcephaly is a disorder in which infants are born with a very small head and underdeveloped brain.  
  • 768
  • 24 Dec 2020
Topic Review
Oral-Facial-Digital Syndrome
Oral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).
  • 768
  • 24 Dec 2020
Topic Review
ABCC9 Gene
ATP binding cassette subfamily C member 9
  • 768
  • 24 Dec 2020
Topic Review
FERMT1 Gene
Fermitin family member 1
  • 768
  • 25 Dec 2020
Topic Review
KRT10 Gene
Keratin 10
  • 767
  • 23 Dec 2020
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