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Lee, J. H. et al. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.
Tania Attié-Bitach and colleagues report that biallelic mutations in KIF7, a component of the Hedgehog signaling pathway, cause hydrolethalus and acrocallosal syndromes.
Immune tolerance is maintained in part by IL-2 and deficiencies in the IL-2 pathway cause reduced Treg function and an increased risk of autoimmunity.
Other genes within the pathway cause diverse phenotypes such as Alagille syndrome (AGS) and CADASIL, conditions that may have their origin in defective vasculogenesis.
Allosteric interactions with metabolites upstream or downstream in an enzyme's metabolic pathway cause feedback regulation, altering the activity of the enzyme according to the flux through the rest of the pathway.
Genetic alterations of the endo-lysosomal pathway cause various severe human diseases.
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The Necdin-Wnt pathway causes epigenetic peroxisome proliferator-activated receptor γ repression in hepatic stellate cells.
"The discovery of a specific itch pathway caused a cataclysmic shift in thinking about itch," said Dr. Earl Carstens, a professor of neurobiology at the University of California at Davis.
Conversely, pharmacological stimulation of the autophagy pathway caused more rapid viral spread in tissue culture and greater pathogenicity in mice.
Homocystinuria is a disorder of sulfur metabolism pathway caused by deficiency of cystathionine β-synthase (CBS).
Conversely, the activated reaction pathway caused the Pbam phase to form chemically homogeneous nano-regions within the R3c phase grains.
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