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Digenic Inheritance in Cystinuria Mouse Model

author

Clara Vilches

Miguel López de Heredia

published in: PLOS One

date of publication: 2015-09-11

language: English

Cites articles 19

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Title

Authors

2014-07-21

An animal model of type A cystinuria due to spontaneous mutation in 129S2/SvPasCrl mice

Sophie Vandermeersch
2013-10-09

Differential cystine and dibasic amino acid handling after loss of function of the amino acid transporter b0,+AT (Slc7a9) in mice

Giovambattista Capasso, Nilufar Mohebbi, Isabel Rubio-Aliaga, Ellen I Closs, Hannelore Daniel
2013-09-19

Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workup
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Cystinuria AA (B): digenic inheritance with three mutations in two cystinuria genes
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Pathophysiology and treatment of cystinuria

Joana Fort, David S. Goldfarb, Virginia Nunes
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Isolation of renal proximal tubular brush-border membranes

Jürg Biber
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New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype
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A mouse model for cystinuria type I.
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Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis

María Lourdes Arbonés, Lídia Feliubadaló
2002-09-01

rBAT-b(0,+)AT heterodimer is the main apical reabsorption system for cystine in the kidney

Joaquín Abian
2002-10-01

Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification

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The molecular bases of cystinuria and lysinuric protein intolerance

Giuseppe Borsani
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Luminal heterodimeric amino acid transporter defective in cystinuria
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Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

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Obligatory amino acid exchange via systems bo,+-like and y+L-like. A tertiary active transport mechanism for renal reabsorption of cystine and dibasic amino acids

Raul Estevez, Josep Lluís Gelpí
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Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria

Luigi Bisceglia, Luisa de Sanctis, Xavier Estivill i Pallejà
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Ion dependence of cystine and lysine uptake by rat renal brush-border membrane vesicles
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Intestinal absorption and renal extraction of cystine and cysteine in cystinuria,Intestinal Absorption and Renal Extraction of Cystine and Cysteine in Cystinuria
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CYSTINURIA: IN VITRO DEMONSTRATION OF AN INTESTINAL TRANSPORT DEFECT

Article - wd:Q35770417

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