Condition: Lysinuric Protein Intolerance
rs121908677 in
SLC7A7 gene and
Lysinuric Protein Intolerance
PMID 9829974 1998 Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance.
PMID 10080182 1999 Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.
PMID 10655553 2000 Five LPI mutations (L334R, G54V, 1291delCTTT, 1548delC and LPI(Fin)) were studied functionally.
PMID 15756301 2005 A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance.
PMID 12402335 2002 Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance.
PMID 17764084 2008 Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.
PMID 15776427 2005 Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.
PMID 10631139 2000 Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.
PMID 10655553 2000 Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI).
PMID 12402335 2002 We successfully identified five novel SLC7A7 variants (S238F, S489P, 1630delC, 1673delG, and IVS3-IVS5del9.7kb) in Japanese patients with LPI by PCR amplification and direct DNA sequencing.
PMID 15776427 2005 We performed the mutation analysis in seven probands from five unrelated LPI families and identified five novel SLC7A7 mutations (p.M50K, p.T188I, p.R333M, p.Y457X, and c.499+?_629-?).
PMID 15776427 2005 We performed the mutation analysis in seven probands from five unrelated LPI families and identified five novel SLC7A7 mutations (p.M50K, p.T188I, p.R333M, p.Y457X, and c.499+?_629-?).
PMID 12402335 2002 The gene-expression ratio of SLC7A6 to SLC7A7 in cultured lymphoblasts was significantly different between normal subjects and LPI patients with R410X and/or S238F, where the relative amount of SLC7A7 mRNA was significantly lower and the relative amount of SLC7A6 mRNA was statistically higher in affected lymphoblasts than in normal cells.
PMID 15776427 2005 We performed the mutation analysis in seven probands from five unrelated LPI families and identified five novel SLC7A7 mutations (p.M50K, p.T188I, p.R333M, p.Y457X, and c.499+?_629-?).
PMID 10655553 2000 Five LPI mutations (L334R, G54V, 1291delCTTT, 1548delC and LPI(Fin)) were studied functionally.