(Q35238974)

7 August 2017

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

1 reference

Xavier Estivill i Pallejà

7 August 2017

12

1 reference

7 August 2017

L Bisceglia

1

1 reference

7 August 2017

M J Calonge

2

1 reference

7 August 2017

A Totaro

3

1 reference

7 August 2017

L Feliubadaló

4

1 reference

7 August 2017

S Melchionda

5

1 reference

7 August 2017

J García

6

1 reference

7 August 2017

X Testar

7

1 reference

7 August 2017

M Gallucci

8

1 reference

7 August 2017

A Ponzone

9

1 reference

7 August 2017

L Zelante

10

1 reference

7 August 2017

A Zorzano

11

1 reference

7 August 2017

P Gasparini

13

1 reference

7 August 2017

V Nunes

14

1 reference

7 August 2017

M Palacín

15

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 March 1997

1 reference

American Journal of Human Genetics

7 August 2017

1 reference

7 August 2017

60

1 reference

7 August 2017

3

1 reference

7 August 2017

611-616

1 reference

Role of the b(o,+)-like amino acid-transport system in the renal reabsorption of cystine and dibasic amino acids

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712527

Cloning of the sodium-dependent, broad-scope, neutral amino acid transporter Bo from a human placental choriocarcinoma cell line

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712527

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.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712527

The rBAT gene is responsible for L-cystine uptake via the b0,(+)-like amino acid transport system in a "renal proximal tubular" cell line (OK cells).

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712527

A comprehensive genetic map of the human genome based on 5,264 microsatellites

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712527

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712527

Ultrastructural localization of a neutral and basic amino acid transporter in rat kidney and intestine

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712527

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712527

Characterization of the promoter region of the gene for the rat neutral and basic amino acid transporter and chromosomal localization of the human gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712527

Genomic organization and chromosomal assignment of the human voltage-gated Na+ channel beta 1 subunit gene (SCN1B).

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712527

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712527

Expression cloning of a human renal cDNA that induces high affinity transport of L-cystine shared with dibasic amino acids in Xenopus oocytes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712527

A continuous high-resolution physical map spanning 17 megabases of the q12, q13.1, and q13.2 cytogenetic bands of human chromosome 19.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712527

Oligomeric structure of a renal cystine transporter: implications in cystinuria

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712527

Mutations of the basic amino acid transporter gene associated with cystinuria

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712527

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712527

Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712527

The 1993-94 Généthon human genetic linkage map

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712527

Mutations in the SLC3A1 transporter gene in cystinuria

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712527

Cystinuria: biochemical evidence for three genetically distinct diseases

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712527

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712527

Intestinal Absorption and Renal Extraction of Cystine and Cysteine in Cystinuria

26 September 2018

1 reference

12 December 2020

Genetic heterogeneity in cystinuria: evidence for allelism

1 reference

12 December 2020

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

1 reference

12 December 2020

Localization of a gene causing cystinuria to chromosome 2p

1 reference

12 December 2020

Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping

1 reference

12 December 2020

Localization of the Gene Encoding a Neutral Amino Acid Transporter-like Protein to Human Chromosome Band 19q13.3 and Characterization of a Simple Sequence Repeat DNA Polymorphism

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

Identifiers

PMCID

1712527

1 reference

7 August 2017

1 reference