SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance
about
Successful whole lung lavage in pulmonary alveolar proteinosis secondary to lysinuric protein intolerance: a case reportCloning and expression of a b(0,+)-like amino acid transporter functioning as a heterodimer with 4F2hc instead of rBAT. A new candidate gene for cystinuriaLoss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduriaStructure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intoleranceLuminal heterodimeric amino acid transporter defective in cystinuriaThe structure of human 4F2hc ectodomain provides a model for homodimerization and electrostatic interaction with plasma membraneStructure and Mechanism of a Na+-Independent Amino Acid TransporterMolecular basis of substrate-induced permeation by an amino acid antiporterA missense mutation in the OCTN2 gene associated with residual carnitine transport activityFacts, fantasies and fun in epithelial physiologyVascular endothelial dysfunction resulting from L-arginine deficiency in a patient with lysinuric protein intoleranceIdentification and functional characterization of a novel low affinity aromatic-preferring amino acid transporter (arpAT). One of the few proteins silenced during primate evolutionSlc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intoleranceOrganization of the pronephric kidney revealed by large-scale gene expression mapping.Pregnancy and lactation outcomes in a Turkish patient with lysinuric protein intoleranceLysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literatureSLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families.Multi-tissue computational modeling analyzes pathophysiology of type 2 diabetes in MKR mice.Role of plasma membrane transporters in muscle metabolism.Expression profiling of genes modulated by minocycline in a rat model of neuropathic painPulmonary alveolar proteinosis: progress in the first 44 years.Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance.Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.Pulmonary alveolar proteinosis: a review.A L-lysine transporter of high stereoselectivity of the amino acid-polyamine-organocation (APC) superfamily: production, functional characterization, and structure modelingA y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance.Heteromeric amino acid transporters: biochemistry, genetics, and physiology.Lysinuric Protein Intolerance Presenting with Multiple Fractures.Hepatic adaptation compensates inactivation of intestinal arginine biosynthesis in suckling miceThe molecular and genetic base of congenital transport defectsGenetic Basis of Children's Interstitial Lung Disease.Syndromic immunodeficiencies: genetic syndromes associated with immune abnormalities.Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature.Projection structure of a member of the amino acid/polyamine/organocation transporter superfamily.Rare lung disease II: pulmonary alveolar proteinosis.Substrate binding tunes conformational flexibility and kinetic stability of an amino acid antiporter.Urine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPILysinuric protein intolerance: reviewing concepts on a multisystem disease.Inborn errors of metabolism underlying primary immunodeficiencies.Lung involvement in children with lysinuric protein intolerance.
P2860
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P2860
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance
description
1999 nî lūn-bûn
@nan
1999 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի մարտին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
SLC7A7, encoding a putative pe ...... lysinuric protein intolerance
@ast
SLC7A7, encoding a putative pe ...... lysinuric protein intolerance
@en
SLC7A7, encoding a putative pe ...... lysinuric protein intolerance
@nl
type
label
SLC7A7, encoding a putative pe ...... lysinuric protein intolerance
@ast
SLC7A7, encoding a putative pe ...... lysinuric protein intolerance
@en
SLC7A7, encoding a putative pe ...... lysinuric protein intolerance
@nl
prefLabel
SLC7A7, encoding a putative pe ...... lysinuric protein intolerance
@ast
SLC7A7, encoding a putative pe ...... lysinuric protein intolerance
@en
SLC7A7, encoding a putative pe ...... lysinuric protein intolerance
@nl
P2093
P356
P1433
P1476
SLC7A7, encoding a putative pe ...... lysinuric protein intolerance
@en
P2093
A Ballabio
A Buoninconti
A De Grandi
G Sebastio
M P Sperandeo
P2888
P304
P356
10.1038/6815
P407
P577
1999-03-01T00:00:00Z