(Q24317890)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19033659%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19033659%20AND%20SRC:MED&resulttype=core&format=json

Solute carrier family 36 member 2

17 January 2020

main subject

1 reference

Solute carrier family 6 member 20

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

proline transport

1 reference

GOA release 2020-03-11

author

Charles G. Bailey

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19033659%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

author name string

Stefan Bröer

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19033659%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Sonja Kowalczuk

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19033659%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Cynthia Ng

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19033659%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Jessica M Vanslambrouck

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19033659%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Helen Rodgers

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19033659%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Christiane Auray-Blais

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19033659%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Juleen A Cavanaugh

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19033659%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Angelika Bröer

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19033659%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

John E J Rasko

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19033659%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

language of work or name

English

0 references

publication date

6 November 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19033659%20AND%20SRC:MED&resulttype=core&format=json

Journal of Clinical Investigation

17 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19033659%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

volume

118

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19033659%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19033659%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

page(s)

3881-3892

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19033659%20AND%20SRC:MED&resulttype=core&format=json

Molecular cloning of the mouse IMINO system: an Na+- and Cl--dependent proline transporter

17 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Identification of mammalian proline transporter SIT1 (SLC6A20) with characteristics of classical system imino

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

The SLC36 family: proton-coupled transporters for the absorption of selected amino acids from extracellular and intracellular proteolysis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Cloning, gene structure and genomic localization of an orphan transporter from mouse kidney with six alternatively-spliced isoforms

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Urine screening for aminoacidopathies: is it beneficial? Results of a long-term follow-up of cases detected bny screening one millon babies

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Hypertension and impaired glycine handling in mice lacking the orphan transporter XT2

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Crystal structure of a bacterial homologue of Na+/Cl--dependent neurotransmitter transporters

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Aminoacidurias: Clinical and molecular aspects.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Amino acid transport across mammalian intestinal and renal epithelia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Quebec neonatal mass urinary screening programme: from micromolecules to macromolecules

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Persistence of the common Hartnup disease D173N allele in populations of European origin.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

The SLC6 orphans are forming a family of amino acid transporters.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

A nonsense polymorphism (Y319X) of the solute carrier family 6 member 18 (SLC6A18) gene is not associated with hypertension and blood pressure in Japanese

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

The repertoire of solute carriers of family 6: identification of new human and rodent genes.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

H+/amino acid transporter 1 (PAT1) is the imino acid carrier: An intestinal nutrient/drug transporter in human and rat.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Glucoglycinuria, a new familial syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Glycinuria, a hereditary disorder associated with nephrolithiasis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria, and other bizarre biochemical features

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Urine screening for aminoacidopathies: Is it beneficial?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Atypical gyrate atrophy of the choroid and retina and iminoglycinuria

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Neonatal iminoglycinuria: evidence that the prolinuria originates in selective deficiency of transport activity in the proximal nephron

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Familial iminoglycinuria. An inborn error of renal tubular transport.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Renal tubular transport of proline, hydroxyproline, and glycine. 3. Genetic basis for more than one mode of transport in human kidney

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Iminoaciduria: a benign renal tubular defect

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Renal iminoglycinuria without intestinal malabsorption of glycine and imino acids

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Human genetics of membrane transport with emphasis on amino acids

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Familial hyperglycinuria. New defect in renal tubular transport of glycine and imino acids

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

The renal handling of amino acids and oligopeptides

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Renal transport of amino acids

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Familial iminoglycinuria with normal intestinal absorption of glycine and imino acids in association with profound mental retardation, a possible "cerebral phenotype".

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Ontogeny of Amino Acid Reabsorption in Human Kidney. Evidence from the Homozygous Infant with Familial Renal Iminoglycinuria for Multiple Proline and Glycine Systems

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Endogenous renal transport of free amino acids in infancy and childhood

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Mutation of the 4F2 heavy-chain carboxy terminus causes y+ LAT2 light-chain dysfunction.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Characterization of mouse amino acid transporter B0AT1 (slc6a19).

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Automated splicing mutation analysis by information theory.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

New renal tubular amino-acid transport system and a new hereditary disorder of amino-acid metabolism.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Newborn urine screening programme in the province of Quebec: an update of 30 years' experience

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

29 November 2018

Xenopus laevis Oocytes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Characterization of the high-affinity monocarboxylate transporter MCT2 in Xenopus laevis oocytes

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579706

Amino acid transport: evidence for genetic control of two types in human kidney

29 November 2018

1 reference

12 December 2020

Cystathioninuria and renal iminoglycinuria in a pedigree

1 reference

12 December 2020

Newborn urine screening experience with over one million infants in the Quebec Network of Genetic Medicine

1 reference

12 December 2020

[Familial disease with associated convulsions with very early onset, excess albumin in the cerebrospinal fluid & hyperaminoaciduria.]

1 reference

12 December 2020

Genetics of haemochromatosis

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI36625

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19033659%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19033659%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

PubMed publication ID

19033659

1 reference