LMNB1, lamin B1, 4001

N. diseases: 128; N. variants: 1
Disease: Progeria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033300
Disease: Progeria
Progeria 		0.020 Biomarker disease BEFREE LMNB1 is reduced in cells from progeria patients, but the significance of this reduction is unclear. 23439683 2013
CUI: C0033300
Disease: Progeria
Progeria 		0.020 AlteredExpression disease BEFREE To examine this relationship, the nuclear lamina was depleted by RNAi or disrupted by expression of the Hutchinson-Gilford progeria syndrome (HGPS) mutant lamin A (progerin), and the effect on CCTα and choline metabolism was analyzed. siRNA-mediated silencing of lamin A/C or lamin B1 in CHO cells to diminish the NR had no effect on PC synthesis, while double knockdown non-specifically inhibited the pathway. 21504799 2011