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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.
2018
2018
In silico analysis of SLC3A1 and SLC7A9 mutations in Iranian patients with Cystinuria
M. Mahdavi
,
Leila Koulivand
,
M. Khorrami
,
Maryam Mirsafaie
,
M. Kheirollahi
Molecular Biology Reports
2018
Corpus ID: 51892160
Cystinuria is an autosomal recessive defect in reabsorptive transport of cystine and the dibasic amino acids ornithine, arginine…
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2015
2015
Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria
Leila Koulivand
,
Mehrdad Mohammadi
,
+4 authors
M. Kheirollahi
Urolithiasis
2015
Corpus ID: 23438336
AbstractCystinuria is an autosomal inherited disorder of renal reabsorption of cystine, arginine, lysine, and ornithine…
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2013
2013
Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workup
S. Kummer
,
A. Venghaus
,
A. Schlune
,
B. Leube
,
T. Eggermann
,
U. Spiekerkoetter
Pediatric nephrology (Berlin, West)
2013
Corpus ID: 29933173
BackgroundCystinuria is an inherited disorder of a renal tubular amino acid transporter and leads to increased cystine excretion…
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2010
2010
Stopping the Stones
F. Coe
,
J. Asplin
Science
2010
Corpus ID: 206529678
Compounds that prevent the crystallization of an amino acid may represent a new class of therapeutic agent for kidney stones. An…
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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
2006
2006
Functional characterization of SLC7A9 polymorphisms assumed to influence the cystinuria phenotype.
E. Brauers
,
C. Schmidt
,
K. Zerres
,
T. Eggermann
Clinical Nephrology
2006
Corpus ID: 35733557
Cystinuria is a hereditary disorder of cystine and dibasic amino acid transport across the luminal membrane of renal tubules and…
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2005
2005
Reabsorció renal d'aminoàcids: anàlisi de mutacions de SLC7A9, el gen de cistinúria de tipus B, i generació d'un model murí "knockout" de Slc7a8
Mariona Font i Llitjós
2005
Corpus ID: 128430310
La cistinuria es una aminoaciduria hereditaria autosomica recessiva (tipus I, OMIM 220100) i dominant amb penetranca incompleta…
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2003
2003
Clinical manifestations in Israeli cystinuria patients and molecular assessment of carrier rates in Libyan Jewish controls.
Roy Sidi
,
E. Levy-Nissenbaum
,
Y. Kreiss
,
E. Pras
The Israel Medical Association journal : IMAJ
2003
Corpus ID: 37628049
BACKGROUND Cystinuria is an autosomal recessive disease that is manifested by the development of kidney stones. Mutations in…
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Review
2003
Review
2003
[From gene to disease; SLC3A1, SLC7A9 and cystinuria].
M. Breuning
,
N. Hamdy
Nederlandsch tijdschrift voor geneeskunde
2003
Corpus ID: 37416377
In total, 1-2% of adults and 6-8% of children suffering from kidney stones have cystinuria, a defect in the transport of amino…
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2000
2000
Dating the origin of the V170M mutation causing non-type I cystinuria in Libyan Jews by linkage disequilibrium and physical mapping of the SLC7A9 gene.
R. Colombo
Genomics
2000
Corpus ID: 19953442
Cystinuria is an autosomal recessive disorder of the transepithelial transport of amino acids, clinically manifested by the…
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