Literature DB >> 1673292

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

A Sahota1, J Chen, M A Behzadian, R Ravindra, H Takeuchi, P J Stambrook, J A Tischfield.   

Abstract

All reported cases of 2,8-dihydroxyadenine (DHA) lithiasis have been due to functional homozygous deficiency of adenine phosphoribosyltransferase (APRT). Here we describe the first case of DHA lithiasis in a patient who has functional APRT activity in cultured lymphoblasts. The patient is heterozygous for Japanese-type (type II) APRT deficiency as demonstrated by starch-gel electrophoresis and DNA sequence analysis. We also demonstrate the use of starch-gel electrophoresis for differentiation between the type II mutant enzyme and the wild-type enzyme.

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Year:  1991        PMID： 1673292      PMCID： PMC1683049     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  24 in total

1.  Identification of a common nonsense mutation in Japanese patients with type I adenine phosphoribosyltransferase deficiency.

Authors:  A Sahota; J Chen; K Asaki; H Takeuchi; P J Stambrook; J A Tischfield
Journal:  Nucleic Acids Res       Date:  1990-10-11       Impact factor: 16.971

2.  A routine method for the establishment of permanent growing lymphoblastoid cell lines.

Authors:  H Neitzel
Journal:  Hum Genet       Date:  1986-08       Impact factor: 4.132

3.  Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese.

Authors:  Y Hidaka; S A Tarlé; S Fujimori; N Kamatani; W N Kelley; T D Palella
Journal:  J Clin Invest       Date:  1988-03       Impact factor: 14.808

4.  The effect of dissolved oxygen partial pressure on growth, metabolism and immunoglobulin production in a permanent human lymphocyte cell line culture.

Authors:  A Mizrahi; G V Vosseller; Y Yagi; G E Moore
Journal:  Proc Soc Exp Biol Med       Date:  1972-01

5.  Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage.

Authors:  N Kamatani; S Kuroshima; C Terai; Y Hidaka; T D Palella; K Nishioka
Journal:  Am J Hum Genet       Date:  1989-08       Impact factor: 11.025

6.  Differentiation alters the unstable expression of adenine phosphoribosyltransferase in mouse teratocarcinoma cells.

Authors:  M S Turker; J A Tischfield; P Rabinovitch; P J Stambrook; J J Trill; A C Smith; C E Ogburn; G M Martin
Journal:  J Exp Pathol       Date:  1986

7.  Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.

Authors:  Y Hidaka; T D Palella; T E O'Toole; S A Tarlé; W N Kelley
Journal:  J Clin Invest       Date:  1987-11       Impact factor: 14.808

8.  Altered kinetic properties of a mutant adenine phosphoribosyltransferase.

Authors:  S Fujimori; I Akaoka; F Takeuchi; H Kanayama; K Tatara; K Nishioka; N Kamatani
Journal:  Metabolism       Date:  1986-02       Impact factor: 8.694

9.  Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies.

Authors:  N Kamatani; C Terai; S Kuroshima; K Nishioka; K Mikanagi
Journal:  Hum Genet       Date:  1987-02       Impact factor: 4.132

10.  Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies.

Authors:  S Fujimori; I Akaoka; K Sakamoto; H Yamanaka; K Nishioka; N Kamatani
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132
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  6 in total

1.  Adenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction.

Authors:  Kati Kaartinen; Ulla Hemmilä; Kaija Salmela; Anne Räisänen-Sokolowski; Timo Kouri; Satu Mäkelä
Journal:  J Am Soc Nephrol       Date:  2014-01-23       Impact factor: 10.121

2.  Mitotic recombination produces the majority of recessive fibroblast variants in heterozygous mice.

Authors:  C Shao; L Deng; O Henegariu; L Liang; N Raikwar; A Sahota; P J Stambrook; J A Tischfield
Journal:  Proc Natl Acad Sci U S A       Date:  1999-08-03       Impact factor: 11.205

3.  Detection of mutations in adenine phosphoribosyltransferase (APRT) deficiency using the LightCycler system.

Authors:  T Funato; Y Nishiyama; N Ioritani; R Matsuki; K Yoshida; M Kaku; T Sasaki; H Ideguchi; J Ono
Journal:  J Clin Lab Anal       Date:  2000       Impact factor: 2.352

4.  Radiopaque 2,8-dihydroxyadenine lithiasis.

Authors:  T Yagisawa; Y Yamazaki; H Toma; N Kamatani
Journal:  Int Urol Nephrol       Date:  1999       Impact factor: 2.370

5.  Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis.

Authors:  S J Engle; M G Stockelman; J Chen; G Boivin; M N Yum; P M Davies; M Y Ying; A Sahota; H A Simmonds; P J Stambrook; J A Tischfield
Journal:  Proc Natl Acad Sci U S A       Date:  1996-05-28       Impact factor: 11.205

6.  Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient.

Authors:  J Chen; A Sahota; T Laxdal; M Scrine; S Bowman; C Cui; P J Stambrook; J A Tischfield
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025
  6 in total

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