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Topic Review
MT-TH Gene
mitochondrially encoded tRNA histidine
  • 676
  • 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.
  • 676
  • 23 Dec 2020
Topic Review
STXBP1 Gene
Syntaxin binding protein 1: The STXBP1 gene provides instructions for making syntaxin-binding protein 1.
  • 676
  • 24 Dec 2020
Topic Review
MYBPC3 Gene
myosin binding protein C, cardiac
  • 675
  • 23 Dec 2020
Topic Review
Milroy Disease
Milroy disease is a condition that affects the normal function of the lymphatic system.
  • 675
  • 23 Dec 2020
Topic Review
WFS1 Gene
Wolframin ER transmembrane glycoprotein.
  • 675
  • 24 Dec 2020
Topic Review
RYR1 Gene
ryanodine receptor 1
  • 675
  • 24 Dec 2020
Topic Review
DNAJC5 Gene
DnaJ Heat Shock Protein Family (Hsp40) Member C5
  • 675
  • 24 Dec 2020
Topic Review
GNAQ Gene
G protein subunit alpha q
  • 674
  • 23 Dec 2020
Topic Review
GABA-Transaminase Deficiency
GABA-transaminase deficiency is a brain disease (encephalopathy) that begins in infancy.
  • 674
  • 23 Dec 2020
Topic Review
ZFYVE26 Gene
Zinc finger FYVE-type containing 26: the ZFYVE26 gene provides instructions for making a protein called spastizin.
  • 674
  • 24 Dec 2020
Topic Review
ETV6 Gene
ETS variant 6
  • 674
  • 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.
  • 673
  • 23 Dec 2020
Topic Review
Müllerian Aplasia and Hyperandrogenism
Müllerian aplasia and hyperandrogenism is a condition that affects the reproductive system in females.
  • 673
  • 23 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.
  • 673
  • 24 Dec 2020
Topic Review
KCNT1 Gene
Potassium sodium-activated channel subfamily T member 1
  • 672
  • 23 Dec 2020
Topic Review
VRK1 Gene
VRK serine/threonine kinase 1.
  • 672
  • 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.
  • 672
  • 08 May 2021
Topic Review
Role of Enhancer-Mediated Transcriptional Regulation in Precision Biology
The emergence of precision biology has been driven by the development of advanced technologies and techniques in high-resolution biological research systems. Enhancer-mediated transcriptional regulation, a complex network of gene expression and regulation in eukaryotes, has attracted significant attention as a promising avenue for investigating the underlying mechanisms of biological processes and diseases. To address biological problems with precision, large amounts of data, functional information, and research on the mechanisms of action of biological molecules is required to address biological problems with precision. Enhancers, including typical enhancers and super enhancers, play a crucial role in gene expression and regulation within this network. The identification and targeting of disease-associated enhancers hold the potential to advance precision medicine.
  • 672
  • 05 Jul 2023
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. 
  • 671
  • 22 Dec 2020
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