(Q34553967)

3 August 2017

title

New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype (English)

1 reference

genotype-phenotype correlation

3 August 2017

main subject

1 reference

1 reference

Font-Llitjós M

1

1 reference

3 August 2017

Jiménez-Vidal M

2

1 reference

3 August 2017

Bisceglia L

3

1 reference

3 August 2017

Di Perna M

4

1 reference

3 August 2017

de Sanctis L

5

1 reference

3 August 2017

Rousaud F

6

1 reference

3 August 2017

Zelante L

7

1 reference

3 August 2017

Palacín M

8

1 reference

3 August 2017

Nunes V

9

1 reference

3 August 2017

language of work or name

English

0 references

publication date

1 January 2005

1 reference

Journal of Medical Genetics

3 August 2017

published in

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3 August 2017

volume

42

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3 August 2017

issue

1

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3 August 2017

page(s)

58-68

1 reference

ESEfinder: A web resource to identify exonic splicing enhancers

3 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735913

The light subunit of system b(o,+) is fully functional in the absence of the heavy subunit

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735913

Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735913

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735913

Apical heterodimeric cystine and cationic amino acid transporter expressed in MDCK cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735913

Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735913

Heteromeric amino acid transporters: biochemistry, genetics, and physiology

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735913

Cystinuria type I: identification of eight new mutations in SLC3A1.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735913

Identification of a membrane protein, LAT-2, that Co-expresses with 4F2 heavy chain, an L-type amino acid transport activity with broad specificity for small and large zwitterionic amino acids

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735913

Cystinuria subtype and the risk of nephrolithiasis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735913

Molecular genetics of cystinuria: mutation analysis of SLC3A1 and evidence for another gene in type I (silent) phenotype

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735913

Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19q

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735913

Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735913

Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735913

Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735913

Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735913

Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735913

Expression cloning of a cDNA from rabbit kidney cortex that induces a single transport system for cystine and dibasic and neutral amino acids

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735913

Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735913

A mouse model for cystinuria type I.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735913

Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735913

Mutation analysis of SLC7A9 in cystinuria patients in Sweden

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735913

Genetic variations of the SLC7A9 gene: allele distribution of 13 polymorphic sites in German cystinuria patients and controls.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735913

SLC7A9 mutations in all three cystinuria subtypes

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735913

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735913

Analysis of the genes SLC7A9 and SLC3A1 in unclassified cystinurics: mutation detection rates and association between variants in SLC7A9 and the disease

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735913

Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735913

An intracellular trafficking defect in type I cystinuria rBAT mutants M467T and M467K.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735913

Clinical features and management of cystinuria

27 October 2018

1 reference

12 December 2020

Rapid assay for amino acids in serum or urine by pre-column derivatization and reversed-phase liquid chromatography

1 reference

12 December 2020

Prospective analysis and classification of patients with cystinuria identified in a newborn screening program

1 reference

12 December 2020

Molecular genetics of cystinuria in French Canadians: identification of four novel mutations in type I patients

1 reference

12 December 2020

Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism

1 reference

12 December 2020

Mutations in the genomic deoxyribonucleic acid for SLC3A1 in patients with cystinuria

1 reference

12 December 2020

Detection of two novel large deletions in SLC3A1 by semi-quantitative fluorescent multiplex PCR

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2004.022244

1 reference

3 August 2017

1 reference

3 August 2017

1 reference