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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 2
2004 1
2005 1
2006 1
2007 1
2010 1
2011 1
2012 2
2013 6
2014 5
2015 7
2016 6
2017 6
2018 4
2019 5
2020 4
2021 3
2022 3
2023 3
2024 0

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PubMed (GeneRIF) for id: 6575

55 results

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Page 1
PiT2 deficiency prevents increase of bone marrow adipose tissue during skeletal maturation but not in OVX-induced osteoporosis.
Frangi G, Guicheteau M, Jacquot F, Pyka G, Kerckhofs G, Feyeux M, Veziers J, Guihard P, Halgand B, Sourice S, Guicheux J, Prieur X, Beck L, Beck-Cormier S. Frangi G, et al. Front Endocrinol (Lausanne). 2022 Nov 16;13:921073. doi: 10.3389/fendo.2022.921073. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36465661 Free PMC article.
Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2.
Arteche-López A, Álvarez-Mora MI, Sánchez Calvin MT, Lezana Rosales JM, Palma Milla C, Gómez Rodríguez MJ, Gomez Manjón I, Blázquez A, Juarez Rufián A, Ramos Gómez P, Sierra Tomillo O, Hidalgo Mayoral I, Pérez de la Fuente R, Posada Rodríguez IJ, González Granado LI, Martin MA, Quesada-Espinosa JF, Moreno-García M. Arteche-López A, et al. Eur J Hum Genet. 2021 Oct;29(10):1520-1526. doi: 10.1038/s41431-021-00919-5. Epub 2021 Jul 15. Eur J Hum Genet. 2021. PMID: 34267336 Free PMC article.
Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element.
Cassinari K, Rovelet-Lecrux A, Tury S, Quenez O, Richard AC, Charbonnier C, Olaso R, Boland A, Deleuze JF, Besancenot JF, Delpont B, Pouliquen D, Lecoquierre F, Chambon P, Thauvin-Robinet C, Campion D, Frebourg T, Battini JL, Nicolas G. Cassinari K, et al. Mov Disord. 2020 Aug;35(8):1336-1345. doi: 10.1002/mds.28090. Epub 2020 Jun 7. Mov Disord. 2020. PMID: 32506582
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. López-Sánchez U, et al. J Biol Chem. 2020 Jul 10;295(28):9366-9378. doi: 10.1074/jbc.RA119.011376. Epub 2020 May 11. J Biol Chem. 2020. PMID: 32393577 Free PMC article.
55 results