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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1999 1
2000 2
2001 1
2002 1
2003 2
2004 3
2005 4
2006 1
2007 2
2008 3
2009 1
2010 1
2011 1
2012 1
2013 1
2014 2
2015 3
2016 5
2017 5
2018 3
2019 8
2020 5
2021 5
2022 9
2023 11
2024 2

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70 results

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Page 1
Integrating single-nucleus sequence profiling to reveal the transcriptional dynamics of Alzheimer's disease, Parkinson's disease, and multiple sclerosis.
Fan LY, Yang J, Liu RY, Kong Y, Guo GY, Xu YM. Fan LY, et al. J Transl Med. 2023 Sep 21;21(1):649. doi: 10.1186/s12967-023-04516-6. J Transl Med. 2023. PMID: 37735671 Free PMC article.
The FindMarker function in Seurat was used to identify the differently expressed genes. Functional enrichment analysis was carried out using the Gene Set Enrichment Analysis (GSEA) and Gene ontology (GO). ...These upregulated HSP family genes interact …
The FindMarker function in Seurat was used to identify the differently expressed genes. Functional enrichment analysis was carried ou …
Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2).
Webster KE, Ferree PM, Holmes RP, Cramer SD. Webster KE, et al. Hum Genet. 2000 Aug;107(2):176-85. doi: 10.1007/s004390000351. Hum Genet. 2000. PMID: 11030416
Primary hyperoxaluria type II (PH2) is a rare disease characterized by the absence of an enzyme with glyoxylate reductase, hydroxypyruvate reductase, and D-glycerate dehydrogenase activities. The gene encoding this enzyme (GRHPR) has been characterized, and a single …
Primary hyperoxaluria type II (PH2) is a rare disease characterized by the absence of an enzyme with glyoxylate reductase, hydroxypyruvate r …
The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II.
Cramer SD, Ferree PM, Lin K, Milliner DS, Holmes RP. Cramer SD, et al. Hum Mol Genet. 1999 Oct;8(11):2063-9. doi: 10.1093/hmg/8.11.2063. Hum Mol Genet. 1999. PMID: 10484776
We identified a glyoxylate reductase/hydroxypyruvate reductase (GRHPR) cDNA clone from a human liver expressed sequence tag (EST) library. ...Database analysis of human ESTs reveals widespread tissue expression, indicating that the enzyme may have a previously unrecognized …
We identified a glyoxylate reductase/hydroxypyruvate reductase (GRHPR) cDNA clone from a human liver expressed sequence tag (EST) lib …
[The Hyperoxalurias].
Marangella M, Petrarulo M, Bermond F, Marcuccio C, Vitale C. Marangella M, et al. G Ital Nefrol. 2016 Malattie Metaboliche e Rene;33(S68):gin/33.S68.12. G Ital Nefrol. 2016. PMID: 27960020 Italian.
Three types have so far been described, all being autosomic recessive. PH1 is due to mutations of AGXT gene encoding liver alanine-glyoxylate aminotransferase, PH2 is caused by mutations of GR-HPR gene encoding glyoxylate reductase and PH3 by mutations of HOGA1 enco …
Three types have so far been described, all being autosomic recessive. PH1 is due to mutations of AGXT gene encoding liver alanine-gl …
Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2.
Cregeen DP, Williams EL, Hulton S, Rumsby G. Cregeen DP, et al. Hum Mutat. 2003 Dec;22(6):497. doi: 10.1002/humu.9200. Hum Mutat. 2003. PMID: 14635115
Primary hyperoxaluria type 2, an inherited autosomal recessive disorder of endogenous oxalate overproduction, is caused by mutations in the GRHPR gene encoding the glyoxylate/hydroxypyruvate reductase enzyme. The GRHPR genes from nineteen unrelated pat …
Primary hyperoxaluria type 2, an inherited autosomal recessive disorder of endogenous oxalate overproduction, is caused by mutations in the …
Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.
Takayama T, Takaoka N, Nagata M, Johnin K, Okada Y, Tanaka S, Kawamura M, Inokuchi T, Ohse M, Kuhara T, Tanioka F, Yamada H, Sugimura H, Ozono S. Takayama T, et al. Clin Genet. 2014 Oct;86(4):342-8. doi: 10.1111/cge.12292. Epub 2013 Nov 5. Clin Genet. 2014. PMID: 24116921
The objective of this study was to investigate ethnic differences in the glyoxylate reductase/hydroxypyruvate reductase (GRHPR) gene in patients with primary hyperoxaluria type 2 (PH2). GRHPR was genotyped in Japanese patients with PH2 and all GRHPR mu …
The objective of this study was to investigate ethnic differences in the glyoxylate reductase/hydroxypyruvate reductase (GRHPR) ge …
Homozygous GRHPR C.494G>A mutation is deleterious that causes early onset of nephrolithiasis in West Bengal, India.
Chatterjee A, Sarkar K, Bank S, Ghosh S, Kumar Pal D, Saraf S, Wakle D, Roy B, Chakraborty S, Bankura B, Chattopadhyay D, Das M. Chatterjee A, et al. Front Mol Biosci. 2022 Dec 22;9:1049620. doi: 10.3389/fmolb.2022.1049620. eCollection 2022. Front Mol Biosci. 2022. PMID: 36619171 Free PMC article.
Using expression study with biochemical activity and computational analysis we assumed that the mutation is pathogenic with loss of function. Moreover, three genes, AGXT, HOGA1 and GRHPR with Novel variants known to cause hyperoxaluria were found frequently in the s …
Using expression study with biochemical activity and computational analysis we assumed that the mutation is pathogenic with loss of function …
Modification of primers for GRHPR genotyping: avoiding allele dropout by single nucleotide polymorphisms and homology sequence.
Takaoka N, Takayama T, Miyazaki M, Nagata M, Ozono S. Takaoka N, et al. Urol Res. 2008 Dec;36(6):297-302. doi: 10.1007/s00240-008-0159-z. Epub 2008 Nov 4. Urol Res. 2008. PMID: 18982322
Primary hyperoxaluria type 2 (PH2) is a rare inherited disease caused by overproduction of endogenous oxalate due to mutations in the glyoxylate/hydroxypyruvate reductase (GRHPR) gene. Here, to avoid allele dropout and primer annealing to multiple sites, and given t …
Primary hyperoxaluria type 2 (PH2) is a rare inherited disease caused by overproduction of endogenous oxalate due to mutations in the glyoxy …
Late diagnosis of primary hyperoxaluria type 2 in the adult: effect of a novel mutation in GRHPR gene on enzymatic activity and molecular modeling.
Levin-Iaina N, Dinour D, Romero L, Ron R, Brady RL, Cramer SD, Holtzman EJ. Levin-Iaina N, et al. J Urol. 2009 May;181(5):2146-51. doi: 10.1016/j.juro.2009.01.045. Epub 2009 Mar 17. J Urol. 2009. PMID: 19296982
Primary hyperoxaluria type 2 is a rare autosomal recessive disease caused by mutations in the GRHPR gene, leading to an accumulation of oxalate and L-glycerate with recurrent kidney stone formation and nephrocalcinosis, and the later development of renal failure and …
Primary hyperoxaluria type 2 is a rare autosomal recessive disease caused by mutations in the GRHPR gene, leading to an accumu …
70 results