ArticlePhysiological reports2018
Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations.
Article in Physiological reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
27 citing papers in PubMed, 46 citations in OpenAlex.
- Identification of a Novel HomozygousInternational journal of molecular sciences · 2025Article
- Genetic deletion of the sodium phosphate cotransporter NaPi2a ameliorates heart failure in mice.Scientific reports · 2025Article
- Phosphate transporters, candidate genes, and the prosecutor's fallacy.Pediatric nephrology (Berlin, Germany) · 2025Article
- An Unusual Case of Factitious Disorder Manifesting as Hypercalcemia Mediated by Exogenous Calcitriol.JCEM case reports · 2025Article
- Effects of SLC34A3 or SLC34A1 variants on calcium and phosphorus homeostasis.Pediatric nephrology (Berlin, Germany) · 2025Article
- Phosphate Homeostasis and Disorders of Phosphate Metabolism.Current pediatric reviews · 2024Review
- A Novel Heterozygous Mutation c.1627G>T (p.Gly543Cys) in theInternational journal of molecular sciences · 2023Article
- Predictive value of single-nucleotide polymorphism signature for nephrolithiasis recurrence: a 5-year prospective study.Clinical kidney journal · 2023Article
- Article
- Association analysis of 10 candidate genes causing Mendelian calcium nephrolithiasis in the INCIPE study: a South European general population cohort.Clinical kidney journal · 2023Article
- The human pathogenic 91del7 mutation in SLC34A1 has no effect in mineral homeostasis in mice.Scientific reports · 2022Article
- Interdependent Transcription of a Natural Sense/Antisense Transcripts Pair (Non-coding RNA · 2022Article
- Single-cell RNA sequencing reveals differential cell cycle activity in key cell populations during nephrogenesis.Scientific reports · 2021Article
- Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings.The Journal of clinical endocrinology and metabolism · 2021Observational
- Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2021Article
- Review
- The genetic polymorphisms of XPR1 and SCL34A3 are associated with Fanconi syndrome in Chinese patients of tumor-induced osteomalacia.Journal of endocrinological investigation · 2021Article
- Five patients with disorders of calcium metabolism presented with GCM2 gene variants.Scientific reports · 2021Observational
- Overlapping Phenotypes Associated WithFrontiers in endocrinology · 2021Article
- Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria.The Journal of clinical endocrinology and metabolism · 2020Article
Corrections and comments
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Authors and funding
13 authors at 6 institutions in 6 countries.
Funding
Abstract
Mutations in SLC34A1, encoding the proximal tubular sodium-phosphate transporter NaPi-IIa, may cause a range of clinical phenotypes including infantile hypercalcemia, a proximal renal Fanconi syndrome, which are typically autosomal recessive, and hypophosphatemic nephrolithiasis, which may be an autosomal dominant trait. Here, we report two patients with mixed clinical phenotypes, both with metabolic acidosis, hyperphosphaturia, and renal stones. Patient A had a single heterozygous pathogenic missense mutation (p.I456N) in SLC34A1, consistent with the autosomal dominant pattern of renal stone disease in this family. Patient B, with an autosomal recessive pattern of disease, was compound heterozygous for SLC34A1 variants; a missense variant (p.R512C) together with a relatively common in-frame deletion p.V91A97del7 (91del7). Xenopus oocyte and renal (HKC-8) cell line transfection studies of the variants revealed limited cell surface localization, consistent with trafficking defects. Co-expression of wild-type and I456N and 91del7 appeared to cause intracellular retention in HKC-8, whereas the R512C mutant had a less dominant effect. Expression in Xenopus oocytes failed to demonstrate a significant dominant negative effect for I456N and R512C; however, a negative impact of 91del7 on [
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