BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

212 related articles for article (PubMed ID: 31043717)

  • 1. Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification.
    López-Sánchez U; Nicolas G; Richard AC; Maltête D; Charif M; Ayrignac X; Goizet C; Touhami J; Labesse G; Battini JL; Sitbon M
    Sci Rep; 2019 May; 9(1):6776. PubMed ID: 31043717
    [TBL] [Abstract][Full Text] [Related]  

  • 2. XPR1 mutations are a rare cause of primary familial brain calcification.
    Anheim M; López-Sánchez U; Giovannini D; Richard AC; Touhami J; N'Guyen L; Rudolf G; Thibault-Stoll A; Frebourg T; Hannequin D; Campion D; Battini JL; Sitbon M; Nicolas G
    J Neurol; 2016 Aug; 263(8):1559-64. PubMed ID: 27230854
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Analysis of gene expression and functional characterization of XPR1: a pathogenic gene for primary familial brain calcification.
    Yao XP; Zhao M; Wang C; Guo XX; Su HZ; Dong EL; Chen HT; Lai JH; Liu YB; Wang N; Chen WJ
    Cell Tissue Res; 2017 Nov; 370(2):267-273. PubMed ID: 28766044
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.
    Legati A; Giovannini D; Nicolas G; López-Sánchez U; Quintáns B; Oliveira JR; Sears RL; Ramos EM; Spiteri E; Sobrido MJ; Carracedo Á; Castro-Fernández C; Cubizolle S; Fogel BL; Goizet C; Jen JC; Kirdlarp S; Lang AE; Miedzybrodzka Z; Mitarnun W; Paucar M; Paulson H; Pariente J; Richard AC; Salins NS; Simpson SA; Striano P; Svenningsson P; Tison F; Unni VK; Vanakker O; Wessels MW; Wetchaphanphesat S; Yang M; Boller F; Campion D; Hannequin D; Sitbon M; Geschwind DH; Battini JL; Coppola G
    Nat Genet; 2015 Jun; 47(6):579-81. PubMed ID: 25938945
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Biallelic XPR1 mutation associated with primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia with infantile convulsions.
    Tang LO; Hou BH; Zhang XN; Xi ZY; Li CX; Xu L
    Brain Dev; 2021 Feb; 43(2):331-336. PubMed ID: 33433330
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Phosphate Transporters Expression in Patients with Primary Familial Brain Calcifications.
    Pimentel LF; Lemos RR; Oliveira JR
    J Mol Neurosci; 2017 Aug; 62(3-4):276-280. PubMed ID: 28578517
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification.
    Guo XX; Zou XH; Wang C; Yao XP; Su HZ; Lai LL; Chen HT; Lai JH; Liu YB; Chen DP; Deng YC; Lin P; Lin HS; Hong BC; Yao QY; Chen XJ; Huang DQ; Fu HX; Peng JD; Niu YF; Zhao YY; Zhu XQ; Lu XP; Lin HL; Li YK; Liu CY; Huang GB; Wang N; Chen WJ
    Hum Mutat; 2019 Apr; 40(4):392-403. PubMed ID: 30609140
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Interplay between primary familial brain calcification-associated SLC20A2 and XPR1 phosphate transporters requires inositol polyphosphates for control of cellular phosphate homeostasis.
    López-Sánchez U; Tury S; Nicolas G; Wilson MS; Jurici S; Ayrignac X; Courgnaud V; Saiardi A; Sitbon M; Battini JL
    J Biol Chem; 2020 Jul; 295(28):9366-9378. PubMed ID: 32393577
    [TBL] [Abstract][Full Text] [Related]  

  • 9. XPR1: a Gene Linked to Primary Familial Brain Calcification Might Help Explain a Spectrum of Neuropsychiatric Disorders.
    Moura DA; Oliveira JR
    J Mol Neurosci; 2015 Dec; 57(4):519-21. PubMed ID: 26231937
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Primary familial brain calcifications.
    Quintáns B; Oliveira J; Sobrido MJ
    Handb Clin Neurol; 2018; 147():307-317. PubMed ID: 29325620
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Primary familial brain calcification with a novel SLC20A2 mutation: Analysis of PiT-2 expression and localization.
    Taglia I; Formichi P; Battisti C; Peppoloni G; Barghigiani M; Tessa A; Federico A
    J Cell Physiol; 2018 Mar; 233(3):2324-2331. PubMed ID: 28722801
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Primary familial brain calcifications: genetic and clinical update.
    Westenberger A; Balck A; Klein C
    Curr Opin Neurol; 2019 Aug; 32(4):571-578. PubMed ID: 31157644
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Inorganic phosphate exporter heterozygosity in mice leads to brain vascular calcification, microangiopathy, and microgliosis.
    Maheshwari U; Mateos JM; Weber-Stadlbauer U; Ni R; Tamatey V; Sridhar S; Restrepo A; de Jong PA; Huang SF; Schaffenrath J; Stifter SA; Szeri F; Greter M; Koek HL; Keller A
    Brain Pathol; 2023 Nov; 33(6):e13189. PubMed ID: 37505935
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A splice site mutation causing exon 6 skipping in SLC20A2 gene in a primary familial brain calcification family.
    Huang YT; Zhang LH; Li MF; Cheng L; Zou GY; Zhou HH
    Brain Res Bull; 2019 Aug; 150():261-265. PubMed ID: 30634018
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Primary brain calcification: an international study reporting novel variants and associated phenotypes.
    Ramos EM; Carecchio M; Lemos R; Ferreira J; Legati A; Sears RL; Hsu SC; Panteghini C; Magistrelli L; Salsano E; Esposito S; Taroni F; Richard AC; Tranchant C; Anheim M; Ayrignac X; Goizet C; Vidailhet M; Maltete D; Wallon D; Frebourg T; Pimentel L; Geschwind DH; Vanakker O; Galasko D; Fogel BL; Innes AM; Ross A; Dobyns WB; Alcantara D; O'Driscoll M; Hannequin D; Campion D; ; Oliveira JR; Garavaglia B; Coppola G; Nicolas G
    Eur J Hum Genet; 2018 Oct; 26(10):1462-1477. PubMed ID: 29955172
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Expression of the mammalian Xenotropic Polytropic Virus Receptor 1 (XPR1) in tobacco leaves leads to phosphate export.
    Wege S; Poirier Y
    FEBS Lett; 2014 Jan; 588(3):482-9. PubMed ID: 24374333
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification.
    Nicolas G; Charbonnier C; Campion D; Veltman JA
    Am J Med Genet B Neuropsychiatr Genet; 2018 Jan; 177(1):68-74. PubMed ID: 29152850
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype.
    Grangeon L; Wallon D; Charbonnier C; Quenez O; Richard AC; Rousseau S; Budowski C; Lebouvier T; Corbille AG; Vidailhet M; Méneret A; Roze E; Anheim M; Tranchant C; Favrole P; Antoine JC; Defebvre L; Ayrignac X; Labauge P; Pariente J; Clanet M; Maltête D; Rovelet-Lecrux A; Boland A; Deleuze JF; ; Frebourg T; Hannequin D; Campion D; Nicolas G
    Brain; 2019 Jun; 142(6):1573-1586. PubMed ID: 31009047
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Inorganic phosphate export by the retrovirus receptor XPR1 in metazoans.
    Giovannini D; Touhami J; Charnet P; Sitbon M; Battini JL
    Cell Rep; 2013 Jun; 3(6):1866-73. PubMed ID: 23791524
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Brain Calcification and Movement Disorders.
    Kostić VS; Petrović IN
    Curr Neurol Neurosci Rep; 2017 Jan; 17(1):2. PubMed ID: 28097511
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.