Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

XPR1 mutations are a rare cause of primary familial brain calcification.

Journal of neurology - 1 Aug 2016

Anheim Mathieu, López-Sánchez Uriel, Giovannini Donatella, Richard Anne-Claire, Touhami Jawida, N'Guyen Ludovic, Rudolf Gabrielle, Thibault-Stoll Anne, Frebourg Thierry, Hannequin Didier, Campion Dominique, Battini Jean-Luc, Sitbon Marc, Nicolas Gaël

Abstract excerpt

Mutations in XPR1, a gene encoding an inorganic phosphate exporter, have recently been identified in patients with primary familial brain calcification (PFBC). Using Sanger sequencing, we screened XPR1 in 18 unrelated patients with PFBC and no SLC20A2, PDGFB, or PDGFRB mutation. XPR1 variants were tested in an in vitro physiological complementation assay and patient blood cells were assessed ex vivo for phosphate...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Brain Diseases
Share to Calcinosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family Health

Share to Magnetic Resonance Imaging

Share to Radionuclide Imaging

Share to Receptors, G-Protein-Coupled

Share to Receptors, Virus

Share to RNA, Small Interfering

Source

Identifiers

PMID: 27230854
DOI: 10.1007/s00415-016-8166-4

Genes

XPR1
PDGFB
PDGFRB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

XPR1 mutations are a rare cause of primary familial brain calcification.PMID 27230854Read ↗

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.Semantic proximity Read ↗

Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcificationSemantic proximity Read ↗

Analysis of gene expression and functional characterization of XPR1: a pathogenic gene for primary familial brain calcification.Semantic proximity Read ↗

Biallelic XPR1 Variants Are Linked to Brain Calcifications, Developmental Delay, Hypophosphatemia, and Cardiopulmonary Phenotype.Semantic proximity Read ↗

Spectrum of SLC20A2 , PDGFRB , PDGFB , and XPR1 mutations in a large cohort of patients with primary familial brain calcificationSemantic proximity Read ↗

Primary brain calcification: an international study reporting novel variants and associated phenotypes.Semantic proximity Read ↗

Pathophysiology of Primary Familial Brain Calcification.Semantic proximity Read ↗

Phosphate Transporters Expression in Patients with Primary Familial Brain Calcifications.Semantic proximity Read ↗

Primary familial brain calcifications: genetic and clinical updateSemantic proximity Read ↗

Primary familial brain calcifications.Semantic proximity Read ↗

The Genetics of Primary Familial Brain Calcification: A Literature Review.Semantic proximity Read ↗

Clinical and radiological diversity in genetically confirmed primary familial brain calcification.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.