Literature DB >> 17510093

A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2.

Tatsuya Takayama1, Masao Nagata, Seiichiro Ozono, Katsuya Nonomura, Scott D Cramer.   

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Year:  2007        PMID： 17510093      PMCID： PMC2413148          DOI： 10.1093/ndt/gfm271

Source DB:  PubMed          Journal:  Nephrol Dial Transplant        ISSN： 0931-0509            Impact factor:   5.992


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  12 in total

1.  Structural basis of substrate specificity in human glyoxylate reductase/hydroxypyruvate reductase.

Authors:  Michael P S Booth; R Conners; Gill Rumsby; R Leo Brady
Journal:  J Mol Biol       Date:  2006-05-22       Impact factor: 5.469

2.  Genetic basis of primary hyperoxaluria type II.

Authors:  K E Webster; S D Cramer
Journal:  Mol Urol       Date:  2000

3.  L-glyceric aciduria. A new genetic variant of primary hyperoxaluria.

Authors:  H E Williams; L H Smith
Journal:  N Engl J Med       Date:  1968-02-01       Impact factor: 91.245

4.  Novel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a living related donor.

Authors:  C W Lam; Y P Yuen; C K Lai; S F Tong; L K Lau; K L Tong; Y W Chan
Journal:  Am J Kidney Dis       Date:  2001-12       Impact factor: 8.860

5.  Glyoxylate reductase activity in blood mononuclear cells and the diagnosis of primary hyperoxaluria type 2.

Authors:  John Knight; Ross P Holmes; Dawn S Milliner; Carla G Monico; Scott D Cramer
Journal:  Nephrol Dial Transplant       Date:  2006-04-05       Impact factor: 5.992

6.  Identification and expression of a cDNA for human hydroxypyruvate/glyoxylate reductase.

Authors:  G Rumsby; D P Cregeen
Journal:  Biochim Biophys Acta       Date:  1999-09-03

Review 7.  The primary hyperoxalurias: an algorithm for diagnosis.

Authors:  Dawn S Milliner
Journal:  Am J Nephrol       Date:  2005-04-22       Impact factor: 3.754

8.  The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II.

Authors:  S D Cramer; P M Ferree; K Lin; D S Milliner; R P Holmes
Journal:  Hum Mol Genet       Date:  1999-10       Impact factor: 6.150

9.  Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2).

Authors:  K E Webster; P M Ferree; R P Holmes; S D Cramer
Journal:  Hum Genet       Date:  2000-08       Impact factor: 4.132

10.  Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.

Authors:  Gill Rumsby; Emma Williams; Marion Coulter-Mackie
Journal:  Kidney Int       Date:  2004-09       Impact factor: 10.612
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  3 in total

Review 1.  Primary hyperoxalurias: diagnosis and treatment.

Authors:  Efrat Ben-Shalom; Yaacov Frishberg
Journal:  Pediatr Nephrol       Date:  2014-12-18       Impact factor: 3.714

2.  Modification of primers for GRHPR genotyping: avoiding allele dropout by single nucleotide polymorphisms and homology sequence.

Authors:  Naohisa Takaoka; Tatsuya Takayama; Miki Miyazaki; Masao Nagata; Seiichiro Ozono
Journal:  Urol Res       Date:  2008-11-04

3.  Glyoxalate reductase/hydroxypyruvate reductase interacts with the sodium-dependent vitamin C transporter-1 to regulate cellular vitamin C homeostasis.

Authors:  Veedamali S Subramanian; Svetlana M Nabokina; Joseph R Patton; Jonathan S Marchant; Hamid Moradi; Hamid M Said
Journal:  Am J Physiol Gastrointest Liver Physiol       Date:  2013-04-18       Impact factor: 4.052
  3 in total

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