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SLC7A9 gene
Known as:
solute carrier family 7 member 9
, SLC7A9
, Solute Carrier Family 7 (Cationic Amino Acid Transporter, y+ System), Member 9 Gene
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This gene plays a role in amino acid transport.
National Institutes of Health
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Related topics
Related topics
8 relations
B(0,+)-Type Amino Acid Transporter 1
Cystinuria
Homo sapiens
Ionophore activity
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2009
2009
Transport characteristics of L‐citrulline in renal apical membrane of proximal tubular cells
Keisuke Mitsuoka
,
Y. Shirasaka
,
+4 authors
I. Tamai
Biopharmaceutics & drug disposition
2009
Corpus ID: 20101533
L‐Citrulline has diagnostic potential for renal function, because its plasma concentration increases with the progression of…
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Review
2008
Review
2008
An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients.
A. Chatzikyriakidou
,
E. Louizou
,
G. Dedousis
,
L. Bisceglia
,
H. Michelakakis
,
I. Georgiou
Molecular Genetics and Metabolism
2008
Corpus ID: 46586892
2008
2008
Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes.
M. di Perna
,
E. Louizou
,
+6 authors
L. Bisceglia
Genetic Testing
2008
Corpus ID: 2311525
Mutations in the SLC3A1 and SLC7A9 genes cause cystinuria (OMIM 220100), an autosomal recessive disorder of amino acid transport…
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2006
2006
Evidence for association of SLC7A9 gene haplotypes with cystinuria manifestation in SLC7A9 mutation carriers
A. Chatzikyriakidou
,
N. Sofikitis
,
V. Kalfakakou
,
K. Siamopoulos
,
I. Georgiou
Urological research
2006
Corpus ID: 11727762
Cystinuria is a complex genetic disorder. In the present study, we report on the strict linkage disequilibrium of SLC7A9…
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2006
2006
SLC7A9 cDNA cloning and mutational analysis of SLC3A1 and SLC7A9 in canine cystinuria
L. Harnevik
,
A. Hoppe
,
P. Söderkvist
Mammalian Genome
2006
Corpus ID: 12029921
Cystinuria is a genetic disorder in the domestic dog that leads to recurrent urolith formation. The genetic basis of the disorder…
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2005
2005
Identification of novel cystinuria mutations and polymorphisms in SLC3A1 and SLC7A9 genes: absence of SLC7A10 gene mutations in cystinuric patients.
A. Chatzikyriakidou
,
N. Sofikitis
,
I. Georgiou
Genetic Testing
2005
Corpus ID: 3119505
Cystinuria represents 3% of nephrolithiasis in humans with an overall prevalence of 1 in 7,000 neonates. Two genes have been…
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2004
2004
The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria
C. Schmidt
,
U. Vester
,
+5 authors
Members of Arbeitsgemeinschaft fur Padiatrische Nephrologie
Urological research
2004
Corpus ID: 29149142
Cystinuria is a common inherited aminoaciduria resulting in nephrolithiasis. Mutations in two genes, SLC3A1 and SLC7A9, have been…
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2003
2003
Genetic variations of the SLC7A9 gene: allele distribution of 13 polymorphic sites in German cystinuria patients and controls.
C. Schmidt
,
J. Tomiuk
,
+14 authors
H. Zappel
Clinical Nephrology
2003
Corpus ID: 2881395
Cystinuria is a hereditary disorder of cystine and dibasic amino acid transport across the luminal membrane of renal tubules and…
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2002
2002
Analysis of the genes SLC7A9 and SLC3A1 in unclassified cystinurics: mutation detection rates and association between variants in SLC7A9 and the disease.
C. Schmidt
,
A. Albers
,
+8 authors
T. Eggermann
Clinical Nephrology
2002
Corpus ID: 23797483
Cystinuria is a common inherited disorder of defective renal reabsorption of cystine and dibasic amino acids. Recently, 2…
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2001
2001
Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients
L. Harnevik
,
E. Fjellstedt
,
Annette Molbæk
,
H. Tiselius
,
T. Denneberg
,
P. Söderkvist
Human Mutation
2001
Corpus ID: 30914353
Cystinuria is an autosomal recessive disorder that affects luminal transport of cystine and dibasic amino acids in the kidneys…
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