ArticleNature genetics2012
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.
Article in Nature genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 196 papers, 3 of them syntheses that pooled it.
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Who cites it
196 citing papers in PubMed, 3 syntheses or guidelines pooled it, 409 citations in OpenAlex.
- Gene Variants Related to Primary Familial Brain Calcification: Perspectives from Bibliometrics and Meta-Analysis.eNeuro · 2025Pooled it
- Insights into the changes in the proteome of Alzheimer disease elucidated by a meta-analysis.Scientific data · 2021Pooled it
- Beyond Surgical Injury: Systemic Etiologies of Recurrent Laryngeal Nerve Palsy.In vivo (Athens, Greece)Pooled it
- Monckeberg's Medial Sclerosis in Athletes: Report of Two Cases and Possible Pathophysiological Mechanisms.Diagnostics (Basel, Switzerland) · 2026Article
- Brain calcification-associated JAM2 pathogenic mutations impair JAM2-JAM3 tight junction structure and the blood-brain barrier integrity.Brain pathology (Zurich, Switzerland) · 2026Article
- Biallelic SLC20A2 loss-of-function in severe early-onset neurodevelopmental disorder with brain calcification.Journal of human genetics · 2026Article
- Renal Phosphate Reabsorption in Humans Depends on at Least Three Distinct Transporters Unlike in Mice.Acta physiologica (Oxford, England) · 2026Article
- [Complications of Pseudohypoparathyroidism and Congenital Forms of Hypoparathyroidism in Children].Problemy endokrinologii · 2026Article
- Prosthodontic rehabilitation in Fahr's syndrome: clinical challenges and oral manifestations.BMC oral health · 2026Article
- Neuronal alkaline phosphatase promotes the spread of Tau-induced pathology, and its blockade prevents neurodegeneration and memory loss.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026Article
- Early-onset Fahr's disease with acute psychosis in a 20-year-old male with SLC20A2 mutation: A case report and literature review.Radiology case reports · 2026Article
- First case of Fahr's disease with homozygous mutations of SLC20A2, among the Libyan children.BMC pediatrics · 2026Article
- A novel SLC20A2 nonsense variant and mechanistic studies of primary brain calcification.PloS one · 2026Article
- Genetic architecture and clinical features of Tourette syndrome in a child and adolescent cohort: an explorative clinical exome-based study.Frontiers in psychiatry · 2026Article
- Incidental Diagnosis of Fahr's Disease Following Severe Traumatic Brain Injury: A Case Report.Clinical case reports · 2026Article
- Experimental Primary Brain Calcification Model and Its Application to Pathogenesis Mechanism Analysis and Therapeutic Research.Neurology international · 2025Review
- Medial arterial calcification in ageing and disease: current evidence and knowledge gaps.European heart journal · 2025Review
- RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Characterisation of phosphate transport in epididymis and prostate with possible relevance for semen quality.EBioMedicine · 2025Article
- Understanding brain calcification via N-terminal acetylation at the Golgi apparatus.Brain : a journal of neurology · 2025Review
136 more citing papers are in PubMed but not listed here.
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Authors and funding
28 authors at 8 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial idiopathic basal ganglia calcification (IBGC) is a genetic condition with a wide spectrum of neuropsychiatric symptoms, including parkinsonism and dementia. Here, we identified mutations in SLC20A2, encoding the type III sodium-dependent phosphate transporter 2 (PiT2), in IBGC-affected families of varied ancestry, and we observed significantly impaired phosphate transport activity for all assayed PiT2 mutants in Xenopus laevis oocytes. Our results implicate altered phosphate homeostasis in the etiology of IBGC.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.