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Topic Review
HADHA Gene
Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
  • 762
  • 22 Dec 2020
Topic Review
Arrhythmogenic Right Ventricular Cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart disease that usually appears in adulthood. ARVC is a disorder of the myocardium, which is the muscular wall of the heart. This condition causes part of the myocardium to break down over time, increasing the risk of an abnormal heartbeat (arrhythmia) and sudden death.
  • 762
  • 24 Dec 2020
Topic Review
ABCC9 Gene
ATP binding cassette subfamily C member 9
  • 762
  • 24 Dec 2020
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).
  • 761
  • 23 Dec 2020
Topic Review
Hystrix-Like Ichthyosis with Deafness
Hystrix-like ichthyosis with deafness (HID) is a disorder characterized by dry, scaly skin (ichthyosis) and hearing loss that is usually profound. Hystrix-like means resembling a porcupine; in this type of ichthyosis, the scales may be thick and spiky, giving the appearance of porcupine quills.
  • 761
  • 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.
  • 761
  • 24 Dec 2020
Topic Review
Donnai-Barrow Syndrome
Donnai-Barrow syndrome is an inherited disorder that affects many parts of the body. This disorder is characterized by unusual facial features, including prominent, wide-set eyes with outer corners that point downward; a short bulbous nose with a flat nasal bridge; ears that are rotated backward; and a widow's peak hairline.
  • 761
  • 24 Dec 2020
Topic Review
Multiple Pterygium Syndrome
Multiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis). As a result, multiple pterygium syndrome can lead to further problems with movement such as arms and legs that cannot fully extend.
  • 760
  • 23 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. 
  • 760
  • 24 Dec 2020
Topic Review
LRP2 Gene
LDL receptor related protein 2
  • 759
  • 23 Dec 2020
Topic Review
Centronuclear Myopathy
Centronuclear myopathy is a condition characterized by muscle weakness (myopathy) and wasting (atrophy) in the skeletal muscles, which are the muscles used for movement. The severity of centronuclear myopathy varies among affected individuals, even among members of the same family.
  • 759
  • 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).
  • 759
  • 24 Dec 2020
Topic Review
BTD Gene
biotinidase
  • 759
  • 24 Dec 2020
Topic Review
SLC11A2 Gene
solute carrier family 11 member 2
  • 759
  • 24 Dec 2020
Topic Review
F9 Gene
Coagulation Factor IX: The F9 gene provides instructions for making a protein called coagulation factor IX. 
  • 759
  • 25 Dec 2020
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.
  • 759
  • 04 Aug 2021
Topic Review
CYP11B2 Gene
Cytochrome P450 Family 11 Subfamily B Member 2: The CYP11B2 gene provides instructions for making an enzyme called aldosterone synthase (previously known as corticosterone methyloxidase). 
  • 758
  • 23 Dec 2020
Topic Review
ALS2 Gene
ALS2, alsin Rho guanine nucleotide exchange factor. The ALS2 gene provides instructions for making a protein called alsin.
  • 758
  • 24 Dec 2020
Topic Review
OCRL Gene
OCRL, inositol polyphosphate-5-phosphatase
  • 758
  • 24 Dec 2020
Topic Review
EXOSC3 Gene
Exosome component 3: The EXOSC3 gene provides instructions for making a protein known as exosome component 3. 
  • 758
  • 24 Dec 2020
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