(Q35238771)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9042922%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9042922%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

0 references

Wartenfeld R

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9042922%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Golomb E

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9042922%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Katz G

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9042922%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Bale SJ

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9042922%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Goldman B

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9042922%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Pras M

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9042922%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Kastner DL

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9042922%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Pras E

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9042922%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

language of work or name

English

0 references

publication date

1 March 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9042922%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

1 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9042922%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

volume

60

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9042922%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9042922%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

page(s)

617-624

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9042922%20AND%20SRC:MED&resulttype=core&format=json

Testing Hypotheses about Linkage Disequilibrium with Multiple Alleles

1 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712492

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).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712492

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712492

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712492

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712492

Familial Mediterranean fever (FMF) in Moroccan Jews: demonstration of a founder effect by extended haplotype analysis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712492

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712492

Membrane topology of the rat kidney neutral and basic amino acid transporter

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712492

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712492

Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712492

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712492

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712492

Mutations of the basic amino acid transporter gene associated with cystinuria

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712492

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712492

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712492

The 1993-94 Généthon human genetic linkage map

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712492

Mutations in the SLC3A1 transporter gene in cystinuria

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712492

Cystine uptake by rat renal brush-border vesicles

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712492

Cystinuria: biochemical evidence for three genetically distinct diseases

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712492

High frequency of cystinuria among Jews of Libyan origin

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712492

Linkage disequilibrium among multiple neutral alleles produced by mutation in finite population

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712492

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712492

Oligomeric structure of a renal cystine transporter: implications in cystinuria

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712492

Strategies for multilocus linkage analysis in humans

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712492

Ion dependence of cystine and lysine uptake by rat renal brush-border membrane vesicles

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712492

Cycle sequencing of (CA)n microsatellites from cosmid inserts using degenerate primers

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712492

Genetic heterogeneity in cystinuria: evidence for allelism

24 October 2018

1 reference

12 December 2020

Clinical features and management of cystinuria

1 reference

12 December 2020

Transport interaction of cystine and dibasic amino acids in renal brush border vesicles

1 reference

12 December 2020

Localization of a gene causing cystinuria to chromosome 2p

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

Genomic organization of SLC3A1, a transporter gene mutated in cystinuria

1 reference

12 December 2020

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

1 reference

12 December 2020

Massachusetts metabolic disorders screening program. I. Technics and results of urine screening

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9042922%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

PubMed publication ID

9042922

1 reference