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Topic Review
Milroy Disease
Milroy disease is a condition that affects the normal function of the lymphatic system.
  • 690
  • 23 Dec 2020
Topic Review
ISCU Gene
Iron-sulfur cluster assembly enzyme
  • 690
  • 23 Dec 2020
Topic Review
RMRP Gene
RNA component of mitochondrial RNA processing endoribonuclease
  • 690
  • 24 Dec 2020
Topic Review
SLC25A13 Gene
solute carrier family 25 member 13
  • 690
  • 24 Dec 2020
Topic Review
ETV6 Gene
ETS variant 6
  • 690
  • 24 Dec 2020
Topic Review
LAMP2 Gene
Lysosomal associated membrane protein 2
  • 689
  • 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.
  • 689
  • 15 Dec 2021
Topic Review
Ghosal Hematodiaphyseal Dysplasia
Ghosal hematodiaphyseal dysplasia is a rare inherited condition characterized by abnormally thick bones and a shortage of red blood cells (anemia). Signs and symptoms of the condition become apparent in early childhood.
  • 688
  • 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.
  • 688
  • 23 Dec 2020
Topic Review
WFS1 Gene
Wolframin ER transmembrane glycoprotein.
  • 688
  • 24 Dec 2020
Topic Review
RYR1 Gene
ryanodine receptor 1
  • 688
  • 24 Dec 2020
Topic Review
ATP6V0A4 Gene
ATPase H+ transporting V0 subunit a4
  • 688
  • 24 Dec 2020
Topic Review
Monilethrix
Monilethrix is a condition that affects hair growth. Its most characteristic feature is that individual strands of hair have a beaded appearance like the beads of a necklace. The name monilethrix comes from the Latin word for necklace (monile) and the Greek word for hair (thrix). Noticeable when viewed under a microscope, the beaded appearance is due to periodic narrowing of the hair shaft. People with monilethrix also have sparse hair growth (hypotrichosis) and short, brittle hair that breaks easily.
  • 687
  • 23 Dec 2020
Topic Review
Childhood Absence Epilepsy
Childhood absence epilepsy is a condition characterized by recurrent seizures (epilepsy).
  • 687
  • 24 Dec 2020
Topic Review
DNAJC5 Gene
DnaJ Heat Shock Protein Family (Hsp40) Member C5
  • 687
  • 24 Dec 2020
Topic Review
CLCF1 Gene
cardiotrophin like cytokine factor 1
  • 687
  • 24 Dec 2020
Topic Review
COL4A1 Gene
collagen type IV alpha 1 chain
  • 687
  • 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.
  • 687
  • 08 Oct 2022
Topic Review
KCNT1 Gene
Potassium sodium-activated channel subfamily T member 1
  • 686
  • 23 Dec 2020
Topic Review
Chordoma
A chordoma is a rare type of cancerous tumor that can occur anywhere along the spine, from the base of the skull to the tailbone. Chordomas grow slowly, gradually extending into the bone and soft tissue around them. They often recur after treatment, and in about 40 percent of cases the cancer spreads (metastasizes) to other areas of the body, such as the lungs.
  • 686
  • 24 Dec 2020
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