Analysis of gene expression and functional characterization of XPR1: a pathogenic gene for primary familial brain calcification-Reference-Cited by-全球学者库

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Analysis of gene expression and functional characterization of XPR1: a pathogenic gene for primary familial brain calcification

Published:2017-08-02 Issue:2 Volume:370 Page:267-273
ISSN:0302-766X
Container-title:Cell and Tissue Research
language:en
Short-container-title:Cell Tissue Res

Author:

Yao Xiang-Ping,Zhao Miao,Wang Chong,Guo Xin-Xin,Su Hui-Zhen,Dong En-Lin,Chen Hai-Ting,Lai Jing-Hui,Liu Yao-Bin,Wang Ning,Chen Wan-Jin

Funder

Program for New Century Excellent Talents in University

National Key Clinical Specialty Discipline Construction Program

Key Clinical Specialty Discipline Construction Program of Fujian

National Natural Science Foundation of China

Publisher

Springer Science and Business Media LLC

Subject

Cell Biology,Histology,Pathology and Forensic Medicine

Link

http://link.springer.com/article/10.1007/s00441-017-2663-3/fulltext.html

Reference19 articles.

1. Anheim M, Lopez-Sanchez 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 (2016) XPR1 mutations are a rare cause of primary familial brain calcification. J Neurol 263:1559–1564

2. Arts FA, Velghe AI, Stevens M, Renauld JC, Essaghir A, Demoulin JB (2015) Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling. J Cell Mol Med 19:239–248

3. da Silva RJ, Pereira IC, Oliveira JR (2013) Analysis of gene expression pattern and neuroanatomical correlates for SLC20A2 (PiT-2) shows a molecular network with potential impact in idiopathic basal ganglia calcification ("Fahr’s disease"). J Mol Neurosci 50:280–283

4. Giovannini D, Touhami J, Charnet P, Sitbon M, Battini JL (2013) Inorganic phosphate export by the retrovirus receptor XPR1 in metazoans. Cell Rep 3:1866–1873

5. Hsu SC, Sears RL, Lemos RR, Quintans B, Huang A, Spiteri E, Nevarez L, Mamah C, Zatz M, Pierce KD, Fullerton JM, Adair JC, Berner JE, Bower M, Brodaty H, Carmona O, Dobricic V, Fogel BL, Garcia-Estevez D, Goldman J, Goudreau JL, Hopfer S, Jankovic M, Jauma S, Jen JC, Kirdlarp S, Klepper J, Kostic V, Lang AE, Linglart A, Maisenbacher MK, Manyam BV, Mazzoni P, Miedzybrodzka Z, Mitarnun W, Mitchell PB, Mueller J, Novakovic I, Paucar M, Paulson H, Simpson SA, Svenningsson P, Tuite P, Vitek J, Wetchaphanphesat S, Williams C, Yang M, Schofield PR, de Oliveira JR, Sobrido MJ, Geschwind DH, Coppola G (2013) Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics 14:11–22

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1. Inorganic phosphate exporter heterozygosity in mice leads to brain vascular calcification, microangiopathy, and microgliosis;Brain Pathology;2023-07-28

2. The Genetics of Primary Familial Brain Calcification: A Literature Review;International Journal of Molecular Sciences;2023-06-29

3. Inositol pyrophosphates activate the vacuolar transport chaperone complex in yeast by disrupting a homotypic SPX domain interaction;Nature Communications;2023-05-08

4. The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families;Scientific Reports;2022-11-07

5. Protective Roles of Xenotropic and Polytropic Retrovirus Receptor 1 (XPR1) in Uremic Vascular Calcification;Calcified Tissue International;2022-02-02

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