Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria (Q24563071)

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

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scholarly article

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Europe PubMed Central

PMC publication ID

40863

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7568194%20AND%20SRC:MED&resulttype=core&format=json

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21 October 2019

title

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

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stated in

Europe PubMed Central

PMC publication ID

40863

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7568194%20AND%20SRC:MED&resulttype=core&format=json

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21 October 2019

main subject

heterogeneity

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inferred from title

author

Luigi Bisceglia

series ordinal

3

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stated in

Europe PubMed Central

PMC publication ID

40863

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7568194%20AND%20SRC:MED&resulttype=core&format=json

retrieved

21 October 2019

Luisa de Sanctis

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5

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stated in

Europe PubMed Central

PMC publication ID

40863

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7568194%20AND%20SRC:MED&resulttype=core&format=json

retrieved

21 October 2019

Xavier Estivill i Pallejà

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10

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Europe PubMed Central

PMC publication ID

40863

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7568194%20AND%20SRC:MED&resulttype=core&format=json

retrieved

21 October 2019

author name string

M J Calonge

series ordinal

1

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Europe PubMed Central

PMC publication ID

40863

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7568194%20AND%20SRC:MED&resulttype=core&format=json

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21 October 2019

V Volpini

series ordinal

2

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Europe PubMed Central

PMC publication ID

40863

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7568194%20AND%20SRC:MED&resulttype=core&format=json

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21 October 2019

F Rousaud

series ordinal

4

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Europe PubMed Central

PMC publication ID

40863

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7568194%20AND%20SRC:MED&resulttype=core&format=json

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21 October 2019

E Beccia

series ordinal

6

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Europe PubMed Central

PMC publication ID

40863

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7568194%20AND%20SRC:MED&resulttype=core&format=json

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21 October 2019

L Zelante

series ordinal

7

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Europe PubMed Central

PMC publication ID

40863

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7568194%20AND%20SRC:MED&resulttype=core&format=json

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21 October 2019

X Testar

series ordinal

8

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Europe PubMed Central

PMC publication ID

40863

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7568194%20AND%20SRC:MED&resulttype=core&format=json

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21 October 2019

A Zorzano

series ordinal

9

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Europe PubMed Central

PMC publication ID

40863

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7568194%20AND%20SRC:MED&resulttype=core&format=json

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21 October 2019

language of work or name

English

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publication date

1 October 1995

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Europe PubMed Central

PMC publication ID

40863

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7568194%20AND%20SRC:MED&resulttype=core&format=json

retrieved

21 October 2019

published in

Proceedings of the National Academy of Sciences of the United States of America

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stated in

Europe PubMed Central

PMC publication ID

40863

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7568194%20AND%20SRC:MED&resulttype=core&format=json

retrieved

21 October 2019

volume

92

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stated in

Europe PubMed Central

PMC publication ID

40863

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7568194%20AND%20SRC:MED&resulttype=core&format=json

retrieved

21 October 2019

issue

21

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stated in

Europe PubMed Central

PMC publication ID

40863

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7568194%20AND%20SRC:MED&resulttype=core&format=json

retrieved

21 October 2019

page(s)

9667-9671

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stated in

Europe PubMed Central

PMC publication ID

40863

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7568194%20AND%20SRC:MED&resulttype=core&format=json

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21 October 2019

cites work

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

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PubMed Central

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

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24 March 2017

Mutations in the SLC3A1 transporter gene in cystinuria

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PubMed Central

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24 March 2017

Opposite directed currents induced by the transport of dibasic and neutral amino acids in Xenopus oocytes expressing the protein rBAT

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24 March 2017

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

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

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24 March 2017

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

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27 September 2017

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

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27 September 2017

A new family of proteins (rBAT and 4F2hc) involved in cationic and zwitterionic amino acid transport: a tale of two proteins in search of a transport function.

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27 September 2017

Cystinuria: biochemical evidence for three genetically distinct diseases

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27 September 2017

Balanced translocation (14;20) in a mentally handicapped child with cystinuria

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rBAT, related to L-cysteine transport, is localized to the microvilli of proximal straight tubules, and its expression is regulated in kidney by development.

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Intestinal Absorption and Renal Extraction of Cystine and Cysteine in Cystinuria

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based on heuristic

inferred from PubMed ID database lookup

Genetic heterogeneity in cystinuria: evidence for allelism

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7568194

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7568194

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based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7568194

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of a gene causing cystinuria to chromosome 2p

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7568194

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1073/PNAS.92.21.9667

1 reference

stated in

Europe PubMed Central

PMC publication ID

40863

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7568194%20AND%20SRC:MED&resulttype=core&format=json

retrieved

21 October 2019

ADS bibcode

1995PNAS...92.9667C

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Fatcat ID

release_pdim2pfaxba6rodyyptkillpye

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Fatcat

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https://api.fatcat.wiki/v0/release/pdim2pfaxba6rodyyptkillpye

retrieved

24 November 2022

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mapped directly with Wikidata item

PMC publication ID

40863

1 reference

stated in

Europe PubMed Central

PMC publication ID

40863

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7568194%20AND%20SRC:MED&resulttype=core&format=json

retrieved

21 October 2019

PubMed publication ID

7568194

1 reference

stated in

Europe PubMed Central

PMC publication ID

40863

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7568194%20AND%20SRC:MED&resulttype=core&format=json

retrieved

21 October 2019

ResearchGate publication ID

15631312

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