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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.
  • 683
  • 23 Dec 2020
Topic Review
LMNA-Related Congenital Muscular Dystrophy
LMNA-related congenital muscular dystrophy (L-CMD) is a condition that primarily affects muscles used for movement (skeletal muscles). It is part of a group of genetic conditions called congenital muscular dystrophies, which cause weak muscle tone (hypotonia) and muscle wasting (atrophy) beginning very early in life.
  • 683
  • 23 Dec 2020
Topic Review
Epigenetic Dysregulation of KCNK9 Imprinting and TNBC
Genomic imprinting is an inherited form of parent-of-origin specific epigenetic gene regulation that is dysregulated by poor prenatal nutrition and environmental toxins. KCNK9 encodes for TASK3, a pH-regulated potassium channel membrane protein that is overexpressed in 40% of breast cancer. However, KCNK9 gene amplification accounts for increased expression in <10% of these breast cancers.
  • 683
  • 15 Dec 2021
Topic Review
Gray Platelet Syndrome
Gray platelet syndrome is a bleeding disorder associated with abnormal platelets, which are small blood cells involved in blood clotting.
  • 682
  • 23 Dec 2020
Topic Review
BSCL2 Gene
BSCL2, seipin lipid droplet biogenesis associated
  • 682
  • 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.
  • 682
  • 09 Jan 2024
Topic Review
GNAQ Gene
G protein subunit alpha q
  • 681
  • 23 Dec 2020
Topic Review
MYBPC3 Gene
myosin binding protein C, cardiac
  • 681
  • 23 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.
  • 681
  • 23 Dec 2020
Topic Review
Milroy Disease
Milroy disease is a condition that affects the normal function of the lymphatic system.
  • 681
  • 23 Dec 2020
Topic Review
LAMP2 Gene
Lysosomal associated membrane protein 2
  • 681
  • 23 Dec 2020
Topic Review
Childhood Absence Epilepsy
Childhood absence epilepsy is a condition characterized by recurrent seizures (epilepsy).
  • 681
  • 24 Dec 2020
Topic Review
DNAJC5 Gene
DnaJ Heat Shock Protein Family (Hsp40) Member C5
  • 681
  • 24 Dec 2020
Topic Review
SLC25A13 Gene
solute carrier family 25 member 13
  • 681
  • 24 Dec 2020
Topic Review
Pseudoxanthoma Elasticum
Pseudoxanthoma elasticum (PXE) is a progressive disorder that is characterized by the accumulation of deposits of calcium and other minerals (mineralization) in elastic fibers.
  • 680
  • 24 Dec 2020
Topic Review
WFS1 Gene
Wolframin ER transmembrane glycoprotein.
  • 680
  • 24 Dec 2020
Topic Review
Familial Isolated Pituitary Adenoma
Familial isolated pituitary adenoma (FIPA) is an inherited condition characterized by development of a noncancerous tumor in the pituitary gland (called a pituitary adenoma). The pituitary gland, which is found at the base of the brain, produces hormones that control many important body functions.
  • 680
  • 25 Dec 2020
Topic Review
RYR1 Gene
ryanodine receptor 1
  • 680
  • 24 Dec 2020
Topic Review
ETV6 Gene
ETS variant 6
  • 679
  • 24 Dec 2020
Topic Review
HLA-DPB1 Gene
Major histocompatibility complex, class II, DP beta 1
  • 678
  • 22 Dec 2020
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