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2020 12
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43 results

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Page 1
Role of Genetic Testing in Kidney Stone Disease: A Narrative Review.
Geraghty R, Lovegrove C, Howles S, Sayer JA. Geraghty R, et al. Curr Urol Rep. 2024 Dec;25(12):311-323. doi: 10.1007/s11934-024-01225-5. Epub 2024 Aug 3. Curr Urol Rep. 2024. PMID: 39096463 Free PMC article. Review.
Evidence is lacking for recurrent disease, and only one genome wide association study has investigated this phenomenon, identifying two associated genes (SLC34A1 and TRPV5). However, in the absence of other evidence, patients with genetic predisposition to KSD should be tr …
Evidence is lacking for recurrent disease, and only one genome wide association study has investigated this phenomenon, identifying two asso …
Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia.
Wang Q, Chen JJ, Wei LY, Ding Y, Liu M, Li WJ, Su C, Gong CX. Wang Q, et al. Orphanet J Rare Dis. 2024 Mar 19;19(1):126. doi: 10.1186/s13023-024-03135-8. Orphanet J Rare Dis. 2024. PMID: 38504242 Free PMC article.
Gene analysis showed that two patients had compound heterozygous mutations of CYP24A1, one patient had a monoallelic CYP24A1 variant, and three patients had a monoallelic SLC34A1 variant. Four novel CYP24A1 variants (c.116G > C, c.287T > A, c.476G > A and c.1349T …
Gene analysis showed that two patients had compound heterozygous mutations of CYP24A1, one patient had a monoallelic CYP24A1 variant, and th …
Inherited conditions resulting in nephrolithiasis.
Hoppe B, Martin-Higueras C. Hoppe B, et al. Curr Opin Pediatr. 2020 Apr;32(2):273-283. doi: 10.1097/MOP.0000000000000848. Curr Opin Pediatr. 2020. PMID: 31789978 Review.
In hypercalcuria, for example, the commonly used definition of idiopathic hypercalciuria was adopted to the genetic background, here three autosomal recessive hereditary forms of CYP24A1, SLC34A1 and SLC34A3 associated nephrocalcinosis/urolithiasis with elevated 1.25-dihyd …
In hypercalcuria, for example, the commonly used definition of idiopathic hypercalciuria was adopted to the genetic background, here three a …
SLC17A2 Expression Correlates with Prognosis and Immune Infiltrates in Hepatocellular Carcinoma.
Wang Z, Chen X, Jiang Z. Wang Z, et al. Comb Chem High Throughput Screen. 2022;25(12):2001-2015. doi: 10.2174/1386207325666220126104358. Comb Chem High Throughput Screen. 2022. PMID: 35081886
BACKGROUND: Hepatocellular carcinoma (HCC) is one of the most common malignant tumors with a dismal prognosis, according to updated statistics. The solute carrier family 17 member 2 (SLC17A2) has not been studied in liver cancer. T …
BACKGROUND: Hepatocellular carcinoma (HCC) is one of the most common malignant tumors with a dismal prognosis, according to updated statisti …
Whole-Exome Sequencing (WES) Reveals Novel Sex-Specific Gene Variants in Non-Alcoholic Steatohepatitis (MASH).
Wei J, Wu BJ, Daoud SS. Wei J, et al. Genes (Basel). 2024 Mar 13;15(3):357. doi: 10.3390/genes15030357. Genes (Basel). 2024. PMID: 38540416 Free PMC article.
In female samples, Polymorphisms in RGSL1, SLC17A2, HFE, NLRC5, ACTN4, SBF1, and ALPK2 were identified. A heterozygous variant 1151G>T located on 18q21.32 for ALPK2 (rs3809983) was validated by Sanger sequencing and expressed only in female samples. Immunoblot analysis …
In female samples, Polymorphisms in RGSL1, SLC17A2, HFE, NLRC5, ACTN4, SBF1, and ALPK2 were identified. A heterozygous variant 1151G& …
Novel Fanconi renotubular syndromes provide insights in proximal tubule pathophysiology.
Lemaire M. Lemaire M. Am J Physiol Renal Physiol. 2021 Feb 1;320(2):F145-F160. doi: 10.1152/ajprenal.00214.2020. Epub 2020 Dec 7. Am J Physiol Renal Physiol. 2021. PMID: 33283647 Free article. Review.
Although the classic forms of FRTS will be presented (e.g., Dent disease or Lowe syndrome), particular attention will be paid to five of the most recently discovered FRTS subtypes caused by mutations in the genes encoding for L-arginine:glycine amidinotransferase (GATM), solut
Although the classic forms of FRTS will be presented (e.g., Dent disease or Lowe syndrome), particular attention will be paid to five of the …
CYP24A1 and SLC34A1 Pathogenic Variants Are Uncommon in a Canadian Cohort of Children with Hypercalcemia or Hypercalciuria.
Rousseau-Nepton I, Jones G, Schlingmann K, Kaufmann M, Zuijdwijk CS, Khatchadourian K, Gupta IR, Pacaud D, Pinsk MN, Mokashi A, Nour MA, Alexander RT, Rodd CJ. Rousseau-Nepton I, et al. Horm Res Paediatr. 2021;94(3-4):124-132. doi: 10.1159/000517548. Epub 2021 Jul 28. Horm Res Paediatr. 2021. PMID: 34320495
OBJECTIVES: Biallelic pathogenic variants in CYPA24A1 and SLC34A1 are causes of idiopathic infantile hypercalcemia. Pathogenic variants in both may also give rise to hypercalciuria with nephrocalcinosis or nephrolithiasis without previous hypercalcemia (renal group). Our o …
OBJECTIVES: Biallelic pathogenic variants in CYPA24A1 and SLC34A1 are causes of idiopathic infantile hypercalcemia. Pathogenic varian …
Association of SUMOylation Pathway Genes With Stroke in a Genome-Wide Association Study in India.
Kumar A, Chauhan G, Sharma S, Dabla S, Sylaja PN, Chaudhary N, Gupta S, Agrawal CS, Anand KS, Srivastava AK, Vibha D, Sagar R, Raj R, Maheshwari A, Vivekanandhan S, Kaul B, Raghavan S, Gorthi SP, Mohania D, Kaushik S, Yadav RK, Hazarika A, Sharma P, Prasad K. Kumar A, et al. Neurology. 2021 Jul 27;97(4):e345-e356. doi: 10.1212/WNL.0000000000012258. Epub 2021 May 24. Neurology. 2021. PMID: 34031191 Free PMC article.

In gene-based analysis, we identified 3 genes (SLC17A2, FAM73A, and OR52L1) at p < 2.7 10(-6). Eleven of 32 candidate gene loci studied in an Indian population replicated (p < 0.05), and 21 of 32 loci identified through previous GWAS replicated according to direction

In gene-based analysis, we identified 3 genes (SLC17A2, FAM73A, and OR52L1) at p < 2.7 10(-6). Eleven of 32 candidate gene loci st

Genetics of kidney stone disease-Polygenic meets monogenic.
Halbritter J. Halbritter J. Nephrol Ther. 2021 Apr;17S:S88-S94. doi: 10.1016/j.nephro.2020.02.003. Nephrol Ther. 2021. PMID: 33910705 Review.
Interestingly, identified GWAS loci often match those of Mendelian disease genes and vice versa (CASR, SLC34A1, CYP24A1). These findings provide mechanistic links related to renal calcium homeostasis, vitamin D metabolism, and CaSR-signaling regulated by the CaSR-CLDN14-CL …
Interestingly, identified GWAS loci often match those of Mendelian disease genes and vice versa (CASR, SLC34A1, CYP24A1). These findi …
Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings.
Lenherr-Taube N, Young EJ, Furman M, Elia Y, Assor E, Chitayat D, Uster T, Kirwin S, Robbins K, Vinette KMB, Daneman A, Marshall CR, Collins C, Thummel K, Sochett E, Levine MA. Lenherr-Taube N, et al. J Clin Endocrinol Metab. 2021 Sep 27;106(10):2915-2937. doi: 10.1210/clinem/dgab431. J Clin Endocrinol Metab. 2021. PMID: 34125233 Free PMC article.
Genetic variants were common (65%), with the majority being heterozygous variants in SLC34A1 and SLC34A3, while a minority showed variants of CYP24A1 and other genes related to hypercalciuria. CONCLUSION: The milder form of IIH has a distinctive vitamin D metabolite profil …
Genetic variants were common (65%), with the majority being heterozygous variants in SLC34A1 and SLC34A3, while a minority showed var …
43 results