SLC7A1, solute carrier family 7 member 1, 6541

N. diseases: 46; N. variants: 6
Disease: Fetal Growth Retardation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.020 AlteredExpression phenotype BEFREE Normal or IUGR HUVEC monolayers were exposed (0-24h) to 5% O(2) (normoxia), and 1 or 2% O(2) (hypoxia). l-Arginine transport and hCAT-1 expression, phosphorylated and total PKCalpha or eNOS protein and mRNA expression were quantified. eNOS involvement was tested using a siRNA against eNOS (eNOS-siRNA) adenovirus. 19501907 2009
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.020 AlteredExpression phenotype BEFREE In summary, endothelium from fetuses with IUGR exhibit altered L-arginine transport and NO synthesis (L-arginine/NO pathway), reduced expression and activity of hCAT-1 and hCAT-2B and reduced eNOS activity. 12142345 2002