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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.
  • 684
  • 23 Dec 2020
Topic Review
ATP6V0A4 Gene
ATPase H+ transporting V0 subunit a4
  • 684
  • 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.
  • 684
  • 09 Jan 2024
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.
  • 683
  • 23 Dec 2020
Topic Review
SLC25A13 Gene
solute carrier family 25 member 13
  • 683
  • 24 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
GNAQ Gene
G protein subunit alpha q
  • 682
  • 23 Dec 2020
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
Milroy Disease
Milroy disease is a condition that affects the normal function of the lymphatic system.
  • 682
  • 23 Dec 2020
Topic Review
LAMP2 Gene
Lysosomal associated membrane protein 2
  • 682
  • 23 Dec 2020
Topic Review
Childhood Absence Epilepsy
Childhood absence epilepsy is a condition characterized by recurrent seizures (epilepsy).
  • 682
  • 24 Dec 2020
Topic Review
BSCL2 Gene
BSCL2, seipin lipid droplet biogenesis associated
  • 682
  • 24 Dec 2020
Topic Review
MYBPC3 Gene
myosin binding protein C, cardiac
  • 681
  • 23 Dec 2020
Topic Review
DNAJC5 Gene
DnaJ Heat Shock Protein Family (Hsp40) Member C5
  • 681
  • 24 Dec 2020
Topic Review
Deleted in Colorectal Cancer
An Error has occurred retrieving Wikidata item for infobox Deleted in Colorectal Carcinoma, also known as DCC, is a protein which in humans is encoded by the DCC gene. DCC has long been implicated in colorectal cancer. While the official, full name of this gene is Deleted in Colorectal Carcinoma, it is almost universally called Deleted in Colorectal Cancer. The protein product of DCC is a single transmembrane receptor also known as DCC, and it has the same interchangeable name. Since it was first discovered in a colorectal cancer study in 1990, DCC has been the focus of a significant amount of research. DCC held a controversial place as a tumour suppressor gene for many years, and is well known as an axon guidance receptor that responds to netrin-1. More recently DCC has been characterized as a dependence receptor, and many hypotheses have been put forward that have revived interest in DCC's candidacy as a tumour suppressor gene, as it may be a ligand-dependent suppressor that is frequently epigenetically silenced.
  • 681
  • 08 Oct 2022
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
RYR1 Gene
ryanodine receptor 1
  • 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
ETV6 Gene
ETS variant 6
  • 679
  • 24 Dec 2020
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