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Year Number of Results
2015 2
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Page 1
Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.
Hopp K, Cogal AG, Bergstralh EJ, Seide BM, Olson JB, Meek AM, Lieske JC, Milliner DS, Harris PC; Rare Kidney Stone Consortium. Hopp K, et al. J Am Soc Nephrol. 2015 Oct;26(10):2559-70. doi: 10.1681/ASN.2014070698. Epub 2015 Feb 2. J Am Soc Nephrol. 2015. PMID: 25644115 Free PMC article.
Three loci have been identified: AGXT (PH1), GRHPR (PH2), and HOGA1 (PH3). Here, we compared genotype to phenotype in 355 patients in the Rare Kidney Stone Consortium PH registry and calculated prevalence using publicly available whole-exome data. ...Population analysis su …
Three loci have been identified: AGXT (PH1), GRHPR (PH2), and HOGA1 (PH3). Here, we compared genotype to phenotype in 355 patients in …
Possible ethnic associations in primary hyperoxaluria type-III-associated HOGA1 sequence variants.
Abid A. Abid A. Mol Biol Rep. 2021 Apr;48(4):3841-3844. doi: 10.1007/s11033-021-06380-3. Epub 2021 May 4. Mol Biol Rep. 2021. PMID: 33948853 Review.
Primary hyperoxaluria type-III is a disorder of glyoxylate metabolism, caused by pathogenic variants in the HOGA1 gene. To date more than 50 disease-associated pathogenic sequence variants are identified in the gene. ...A possible mutational hot-spot at c.834 position is f …
Primary hyperoxaluria type-III is a disorder of glyoxylate metabolism, caused by pathogenic variants in the HOGA1 gene. To date more …
Genetic assessment in primary hyperoxaluria: why it matters.
Mandrile G, Beck B, Acquaviva C, Rumsby G, Deesker L, Garrelfs S, Gupta A, Bacchetta J, Groothoff J; OxalEurope Consortium/Erknet Guideline Workgroup On Hyperoxaluria. Mandrile G, et al. Pediatr Nephrol. 2023 Mar;38(3):625-634. doi: 10.1007/s00467-022-05613-2. Epub 2022 Jun 13. Pediatr Nephrol. 2023. PMID: 35695965 Free PMC article. Review.
Since biochemical assessment can be unreliable, genetic testing is a crucial diagnostic tool for patients with PH to define the disease type. Patients with PH type 1 (PH1) have a worse prognosis than those with other PH types, despite the same extent of oxalate excretion. …
Since biochemical assessment can be unreliable, genetic testing is a crucial diagnostic tool for patients with PH to define the disease type …
HOGA1 gene pathogenic variants in primary hyperoxaluria type III: Spectrum of pathogenic sequence variants, and phenotypic association.
Abid A, Raza A, Aziz T, Khaliq S. Abid A, et al. Hum Mutat. 2022 Dec;43(12):1757-1779. doi: 10.1002/humu.24490. Epub 2022 Nov 2. Hum Mutat. 2022. PMID: 36259736 Review.
In this study, we describe new cases of the HOGA1 gene pathogenic variants identified in our population. We report the first case of ESKD with successful kidney transplantation with 5 years of follow-up. Furthermore, a comprehensive overview of PH type III associated HO
In this study, we describe new cases of the HOGA1 gene pathogenic variants identified in our population. We report the first case of …
HOGA1 variants in Chinese patients with primary hyperoxaluria type 3: genetic features and genotype-phenotype relationships.
Ge Y, Liu Y, Zhan R, Zhao Z, Li J, Wang W, Tian Y. Ge Y, et al. World J Urol. 2023 Aug;41(8):2141-2148. doi: 10.1007/s00345-023-04461-5. Epub 2023 Jun 15. World J Urol. 2023. PMID: 37318624
PURPOSE: The aim of our study is to describe the genetic features and correlation between the genotype and phenotype of Chinese patients with primary hyperoxaluria type 3 (PH3). METHODS: The genetic and clinical data of PH3 patients in our cohort were …
PURPOSE: The aim of our study is to describe the genetic features and correlation between the genotype and phenotype of Chinese patients wit …
Clinical and molecular characterization of primary hyperoxaluria in Egypt.
Soliman NA, Elmonem MA, Abdelrahman SM, Nabhan MM, Fahmy YA, Cogal A, Harris PC, Milliner DS. Soliman NA, et al. Sci Rep. 2022 Sep 23;12(1):15886. doi: 10.1038/s41598-022-17980-9. Sci Rep. 2022. PMID: 36151119 Free PMC article.
Primary hyperoxaluria (PH) is an autosomal recessive disorder of oxalate metabolism caused by pathogenic variants in either of three genes (AGXT, GRHPR or HOGA1). The study aimed at characterizing the clinical phenotypes as well as the genotypic spectrum of PH in Egypt. .. …
Primary hyperoxaluria (PH) is an autosomal recessive disorder of oxalate metabolism caused by pathogenic variants in either of three genes ( …
Primary hyperoxaluria: Comprehensive mutation screening of the disease causing genes and spectrum of disease-associated pathogenic variants.
Abid A, Raza A, Khan AR, Firasat S, Shahid S, Hashmi S, Zafar MN, Sultan S, Khaliq S, Rizvi SA. Abid A, et al. Clin Genet. 2023 Jan;103(1):53-66. doi: 10.1111/cge.14240. Epub 2022 Oct 9. Clin Genet. 2023. PMID: 36185032
Disease-associated pathogenic-variants were defined as missense, nonsense, frameshift-indels, and splice-site variants with a reported minor allele frequency <1% in controls. We found pathogenic-variants in 34% of the cases. Variants in the AGXT gene causing PH-I were i …
Disease-associated pathogenic-variants were defined as missense, nonsense, frameshift-indels, and splice-site variants with a reported minor …
HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients.
M'dimegh S, Aquaviva-Bourdain C, Omezzine A, Souche G, M'barek I, Abidi K, Gargah T, Abroug S, Bouslama A. M'dimegh S, et al. J Clin Lab Anal. 2017 May;31(3):e22053. doi: 10.1002/jcla.22053. Epub 2016 Aug 26. J Clin Lab Anal. 2017. PMID: 27561601 Free PMC article.
BACKGROUND: Primary hyperoxaluria type 3 (PH3) is due to mutations in the recently identified 4-hydroxy-2-oxoglutarate aldolase (HOGA1) gene. ...The aim of this study was to report three PH3 cases carrying muta …
BACKGROUND: Primary hyperoxaluria type 3 (PH3) is due to mutations in the recently identified 4-hydrox
Dihydrodipicolinate Synthase: Structure, Dynamics, Function, and Evolution.
Grant Pearce F, Hudson AO, Loomes K, Dobson RCJ. Grant Pearce F, et al. Subcell Biochem. 2017;83:271-289. doi: 10.1007/978-3-319-46503-6_10. Subcell Biochem. 2017. PMID: 28271480 Review.
We also review a key development in the field, namely the discovery of a human dihydrodipicolinate synthase-like enzyme, now known as 4-hydroxy-2-oxoglutarate aldolase . This discovery complicates the rationale underpinning drug development agai …
We also review a key development in the field, namely the discovery of a human dihydrodipicolinate synthase-like enzyme, now known as 4
29 results