Your browser does not fully support modern features. Please upgrade for a smoother experience.
Subject:
All Disciplines Arts & Humanities Biology & Life Sciences Business & Economics Chemistry & Materials Science Computer Science & Mathematics Engineering Environmental & Earth Sciences Medicine & Pharmacology Physical Sciences Public Health & Healthcare Social Sciences
Sort by:
Most Viewed Latest Alphabetical (A-Z) Alphabetical (Z-A)
Filter:
All Topic Review Biography Peer Reviewed Entry Video Entry
Topic Review
GABA-Transaminase Deficiency
GABA-transaminase deficiency is a brain disease (encephalopathy) that begins in infancy.
  • 678
  • 23 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.
  • 677
  • 23 Dec 2020
Topic Review
VRK1 Gene
VRK serine/threonine kinase 1.
  • 677
  • 24 Dec 2020
Topic Review
STXBP1 Gene
Syntaxin binding protein 1: The STXBP1 gene provides instructions for making syntaxin-binding protein 1.
  • 677
  • 24 Dec 2020
Topic Review
ZFYVE26 Gene
Zinc finger FYVE-type containing 26: the ZFYVE26 gene provides instructions for making a protein called spastizin.
  • 677
  • 24 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.
  • 677
  • 24 Dec 2020
Topic Review
STING1 Gene
Stimulator of interferon response cGAMP interactor 1: The STING1 gene provides instructions for making a protein that is involved in immune system function. 
  • 676
  • 22 Dec 2020
Topic Review
UCHL1 Gene
Ubiquitin C-terminal hydrolase L1.
  • 676
  • 23 Dec 2020
Topic Review
KCNT1 Gene
Potassium sodium-activated channel subfamily T member 1
  • 676
  • 23 Dec 2020
Topic Review
Keratitis-Ichthyosis-Deafness Syndrome
Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities, and hearing loss.
  • 676
  • 23 Dec 2020
Topic Review
Müllerian Aplasia and Hyperandrogenism
Müllerian aplasia and hyperandrogenism is a condition that affects the reproductive system in females.
  • 676
  • 23 Dec 2020
Topic Review
CLCF1 Gene
cardiotrophin like cytokine factor 1
  • 676
  • 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.
  • 676
  • 08 Oct 2022
Topic Review
GM3 Synthase Deficiency
GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development.
  • 675
  • 23 Dec 2020
Topic Review
HSD17B10 Gene
Hydroxysteroid 17-beta dehydrogenase 10
  • 675
  • 23 Dec 2020
Topic Review
SCARB2 Gene
scavenger receptor class B member 2
  • 675
  • 24 Dec 2020
Topic Review
Genomic Features of Ph-Like ALL
A wide spectrum of genetic alterations (>60), including translocations, cryptic rearrangements, sequence mutations and copy number changes have been described in Ph-like ALL, with slight differences in prevalence across age. These alterations drive constitutively active kinase or cytokine receptor signaling, many of which have been shown to be druggable with a variety of kinase inhibitors. The most commonly mutated pathways are the ABL and JAK-STAT pathways with multiple rearrangements and lesions that converge on downstream ABL/JAK-STAT signaling. Founder alterations may be grouped into three types: (i) JAK/STAT alterations including mutations activating cytokine receptors (e.g., CRLF2 and IL7R); gene fusions hijacking cytokine receptor expression (e.g., IGH-CRLF2 and P2RY8–CRLF2); gene fusions and/or mutations activating kinases (e.g., JAK1, JAK2, JAK3, TYK2); and rearrangements hijacking and truncating cytokine receptor expression (e.g., cryptic EPOR rearrangements); (ii) fusions involving ABL-class genes (ABL1, ABL2, CSF1R, LYN, PDGFRA, PDGFRB); (iii) less common fusions (FLT3, FGFR1, NTRK3, PTK2B) whose number is growing with increasing sequencing studies of different cohorts.
  • 675
  • 08 May 2021
Topic Review
Gene Regulatory Networks in Cancer
Cancer is a genetic disease that involves perturbation of gene regulatory networks (GRNs) caused by various mechanisms, such as copy number alteration, abnormal methylation status, abnormal protein configuration, and post-transcriptional dysregulation. Although driver gene mutation information is crucial for the estimation of the genetic etiology of cancer, it is becoming increasingly evident that many genes are involved in cancer pathophysiology, which appears to disrupt GRNs. In this context, the identification of information regarding gene regulation in cancer tissues is expected to provide invaluable information for the development of anticancer agents or cancer management strategies.
  • 675
  • 21 Dec 2021
Topic Review
Isolated Hyperchlorhidrosis
Isolated hyperchlorhidrosis is characterized by the excessive loss of salt (sodium chloride or NaCl) in sweat.
  • 675
  • 23 Dec 2020
Topic Review
Mucolipidosis III Gamma
Mucolipidosis III gamma is a slowly progressive disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3.
  • 674
  • 23 Dec 2020
  • Page
  • of
  • 135
Featured Entry Collections
>>

Featured Reprints

>>
Encyclopedia of Digital Society, Industry 5.0 and Smart City
Encyclopedia of Engineering
Encyclopedia of Social Sciences
Encyclopedia of Medieval Royal Iconography
Academic Video Service
Feedback