Summary

MedlinePlus is an online health information resource. It is a service of the National Library of Medicine (NLM), the world's largest medical library, which is part of the National Institutes of Health (NIH). To promote the transmission of knowledge, this entry collection contains information about the effects of genetic variation on human health transferred from MedlinePlus.

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3MC Syndrome
3MC syndrome is a disorder characterized by unusual facial features and problems affecting other tissues and organs.
  • 718
  • 31 Dec 2020
Topic Review
Klebsiella pneumoniae
Klebsiella pneumoniae is an opportunistic pathogen that causes nosocomial and community-acquired infections. The spread of resistant strains of K. pneumoniae represents a growing threat to human health, due to the exhaustion of effective treatments. K. pneumoniae releases outer membrane vesicles (OMVs). OMVs are a vehicle for the transport of virulence factors to host cells, causing cell injury. Previous studies have shown changes of gene expression in human bronchial epithelial cells after treatment with K. pneumoniae OMVs. These variations in gene expression could be regulated through microRNAs (miRNAs), which participate in several biological mechanisms. Thereafter, miRNA expression profiles in human bronchial epithelial cells were evaluated during infection with standard and clinical K. pneumoniae strains. Microarray analysis and RT-qPCR identified the dysregulation of miR-223, hsa-miR-21, hsa-miR-25 and hsa-let-7g miRNA sequences. Target gene prediction revealed the essential role of these miRNAs in the regulation of host immune responses involving NF-ĸB (miR-223), TLR4 (hsa-miR-21), cytokine (hsa-miR-25) and IL-6 (hsa-let-7g miRNA) signalling pathways. The current study provides the first large scale expression profile of miRNAs from lung cells and predicted gene targets, following exposure to K. pneumoniae OMVs. Our results suggest the importance of OMVs in the inflammatory response.
  • 1.5K
  • 29 Dec 2020
Topic Review
Copper Biological Active Complexes
Very few biological active Cu(II) complexes entered in clinical trials as result of poor water solubility and lipophilicity, low stability as well as in vivo inactivation. Their pharmacological and/or oral administration profile can be improved either by physically encapsulation or by conjugation to an organic matrix via a moiety able to coordinate Cu(II). As result, a large variety of species were developed as delivery carriers such as liposomes, synthetic or natural polymers or dendrimers.
  • 1.8K
  • 28 Dec 2020
Topic Review
TSC2 Gene
TSC complex subunit 2
  • 639
  • 25 Dec 2020
Topic Review
TSC1 Gene
TSC complex subunit 1: The TSC1 gene provides instructions for producing a protein called hamartin, whose function is not fully understood. 
  • 630
  • 25 Dec 2020
Topic Review
TRPV4 Gene
Transient receptor potential cation channel subfamily V member 4: The TRPV4 gene provides instructions for making a protein that acts as a calcium channel. 
  • 544
  • 25 Dec 2020
Topic Review
TRPS1 Gene
Transcriptional repressor GATA binding 1: The TRPS1 gene provides instructions for making a protein that regulates the activity of many other genes.
  • 621
  • 25 Dec 2020
Topic Review
TRPM6 Gene
Transient receptor potential cation channel subfamily M member 6: The TRPM6 gene provides instructions for making a protein that acts as a channel, which allows charged atoms (ions) of magnesium (Mg2+) to flow into cells; the channel may also allow small amounts of calcium ions (Ca2+) to pass through cells. 
  • 540
  • 25 Dec 2020
Topic Review
TRPM4 Gene
Transient receptor potential cation channel subfamily M member 4: The TRPM4 gene provides instructions for making a protein called transient receptor potential cation channel subfamily M member 4 (TRPM4). 
  • 564
  • 25 Dec 2020
Topic Review
TRPM1 Gene
Transient receptor potential cation channel subfamily M member 1: The TRPM1 gene provides instructions for making a protein called transient receptor potential cation channel subfamily M member 1 (TRPM1). 
  • 679
  • 25 Dec 2020
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