P4HB, prolyl 4-hydroxylase subunit beta, 5034

N. diseases: 222; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551584
Disease: Brain atrophy
Brain atrophy
0.020 GeneticVariation disease BEFREE At baseline, serum NfL levels correlated with MRI-lesion load [lacune count (<i>s </i>=<i> </i>0.64, <i>P</i> = 0.002), brain atrophy (<i>r </i>=<i> </i>-0.50, <i>P</i> = 0.001), and microbleed count (<i>s </i>=<i> </i>0.48, <i>P</i> = 0.044)], cognition [CAMCOG (<i>s </i>=<i> </i>-0.45, <i>P</i> = 0.010), MMSE (<i>r </i>=<i> </i>-0.61, <i>P</i> = 0.003), GIT (<i>r </i>=<i> </i>-0.61, <i>P</i> < 0.001), TMT-A (<i>r </i>=<i> </i>0.70, <i>P</i> < 0.001)) and disability (mRS (<i>r </i>=<i> </i>0.70, <i>P</i> = 0.002)]. 30656183 2019
CUI: C4551584
Disease: Brain atrophy
Brain atrophy
0.020 Biomarker disease BEFREE We found that the unfolded protein response (UPR) was strongly activated after HI injury and that bFGF significantly reduced the levels of the ER stress signalling proteins GRP78 and PDI. bFGF also decreased brain infarction volumes and conferred long-term neuroprotective effects against brain atrophy and neuron loss after HI brain injury. 28337259 2017