(Q28513681)

25 January 2017

title

Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis (English)

1 reference

Adenine phosphoribosyl transferase

25 January 2017

main subject

1 reference

GOA release 2020-03-11

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S. J. Engle

1

S J

Engle

1 reference

25 January 2017

M. G. Stockelman

2

M G

Stockelman

1 reference

25 January 2017

J. Chen

3

J

Chen

1 reference

25 January 2017

G. Boivin

4

G

Boivin

1 reference

25 January 2017

M. N. Yum

5

M N

Yum

1 reference

25 January 2017

P. M. Davies

6

P M

Davies

1 reference

25 January 2017

M. Y. Ying

7

M Y

Ying

1 reference

25 January 2017

A. Sahota

8

A

Sahota

1 reference

25 January 2017

H. A. Simmonds

9

H A

Simmonds

1 reference

25 January 2017

P. J. Stambrook

10

P J

Stambrook

1 reference

25 January 2017

J. A. Tischfield

11

J A

Tischfield

1 reference

25 January 2017

language of work or name

English

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publication date

28 May 1996

1 reference

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

25 January 2017

published in

1 reference

25 January 2017

volume

93

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25 January 2017

issue

11

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25 January 2017

page(s)

5307–5312

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Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis

25 January 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39241

Disruption of the adenosine deaminase gene causes hepatocellular impairment and perinatal lethality in mice

19 March 2017

1 reference

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Adenosine-deaminase-deficient mice die perinatally and exhibit liver-cell degeneration, atelectasis and small intestinal cell death

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39241

HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39241

A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into mice

19 March 2017

1 reference

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In Vivo Distribution of Injected 14C‐Dioxyadenine in Tissues and Organs of Normal Rats

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39241

Metabolism by man of intravenously administered adenine

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39241

Enhanced solubility of 2,8 dihydroxyadenine (DOA) in human urine

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39241

Disruption of the proto-oncogene int-2 in mouse embryo-derived stem cells: a general strategy for targeting mutations to non-selectable genes

19 March 2017

1 reference

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The in vitro development of blastocyst-derived embryonic stem cell lines: formation of visceral yolk sac, blood islands and myocardium

7 April 2017

1 reference

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A re-evaluation of the tissue distribution and physiology of xanthine oxidoreductase

7 April 2017

1 reference

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Trends in the biochemical pharmacology of 5'-deoxy-5'-methylthioadenosine

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39241

Nucleotide sequence and organization of the mouse adenine phosphoribosyltransferase gene: presence of a coding region common to animal and bacterial phosphoribosyltransferases that has a variable intron/exon arrangement

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39241

Xanthine oxidase: biochemistry, distribution and physiology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39241

29 September 2017

1 reference

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Limitations and problems of animal experiments in uremia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39241

2,8-dihydroxyadenine urolithiasis: report of a case first diagnosed after renal transplant

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39241

The medical aspects of urolithiasis: an overview.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39241

2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39241

Partial deficiency of adenine phosphoribosyltransferase in man

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39241

Developmental changes of adenosine deaminase, xanthine oxidase, and uricase in mouse tissues.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39241

Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39241

Xanthine oxidase activity and immunologically detectable protein in the C57B1/6 mouse

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39241

S-adenosylmethionine increases erythrocyte ATP in vitro by a route independent of adenosine kinase

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39241

Metabolism by the rabbit of intravenously administered adenine.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39241

8-Hydroxyadenine as the intermediate in the oxidation of adenine to 2, 8-dihydroxyadenine by xanthine oxidase

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39241

Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39241

A modified fluorometric assay for adenine in plasma and urine

27 November 2018

1 reference

12 December 2020

Complete deficiency of adenine phosphoribosyltransferase. Report of a family

1 reference

12 December 2020

Plasma concentration and renal excretion of adenine and 2,8-dihydroxyadenine after administration of adenine in man

1 reference

12 December 2020

Human adenine phosphoribosyltransferase. Immunochemical quantitation and protein blot analysis of mutant forms of the enzyme

1 reference

12 December 2020

Variation in erythrocyte purine metabolism among mouse strains

1 reference

12 December 2020

A new location for the human adenine phosphoribosyltransferase gene ( APRT ) distal to the haptoglobin ( HP ) and fra(16)(q23) ( FRAUD ) loci

1 reference

12 December 2020

2,8-Dihydroxyadenine urolithiasis, an underdiagnosed disease

1 reference

12 December 2020

Animal models to induce renal failure: a historical survey

1 reference

12 December 2020

Re: Distribution of patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan

1 reference

12 December 2020

An efficient salt-chloroform extraction of DNA from blood and tissues

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.93.11.5307

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