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For: Shimojima K, Inoue T, Imai Y, Arai Y, Komoike Y, Sugawara M, Fujita T, Ideguchi H, Yasumoto S, Kanno H. Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication. J Hum Genet. 2012;57:580-586. [PMID: 22695888 DOI: 10.1038/jhg.2012.71] [Cited by in Crossref: 17] [Cited by in F6Publishing: 16] [Article Influence: 1.7] [Reference Citation Analysis]
Number Citing Articles
1 Inoue K. Patient-derived iPS cells for unveiling the molecular pathology of Pelizaeus-Merzbacher disease: a commentary on 'Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication'. J Hum Genet 2012;57:553-4. [PMID: 22786577 DOI: 10.1038/jhg.2012.85] [Cited by in Crossref: 1] [Article Influence: 0.1] [Reference Citation Analysis]
2 Osaka H, Inoue K. Pathophysiology and emerging therapeutic strategies in Pelizaeus–Merzbacher disease. Expert Opinion on Orphan Drugs 2015;3:1447-59. [DOI: 10.1517/21678707.2015.1106315] [Cited by in Crossref: 1] [Article Influence: 0.1] [Reference Citation Analysis]
3 Shimojima K, Okumura A, Ikeno M, Nishimura A, Saito A, Saitsu H, Matsumoto N, Yamamoto T. A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus–Merzbacher disease. Brain and Development 2015;37:281-5. [DOI: 10.1016/j.braindev.2014.05.004] [Cited by in Crossref: 10] [Cited by in F6Publishing: 8] [Article Influence: 1.4] [Reference Citation Analysis]
4 Casamassa A, Ferrari D, Gelati M, Carella M, Vescovi AL, Rosati J. A Link between Genetic Disorders and Cellular Impairment, Using Human Induced Pluripotent Stem Cells to Reveal the Functional Consequences of Copy Number Variations in the Central Nervous System-A Close Look at Chromosome 15. Int J Mol Sci 2020;21:E1860. [PMID: 32182809 DOI: 10.3390/ijms21051860] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
5 Numasawa-Kuroiwa Y, Okada Y, Shibata S, Kishi N, Akamatsu W, Shoji M, Nakanishi A, Oyama M, Osaka H, Inoue K, Takahashi K, Yamanaka S, Kosaki K, Takahashi T, Okano H. Involvement of ER stress in dysmyelination of Pelizaeus-Merzbacher Disease with PLP1 missense mutations shown by iPSC-derived oligodendrocytes. Stem Cell Reports 2014;2:648-61. [PMID: 24936452 DOI: 10.1016/j.stemcr.2014.03.007] [Cited by in Crossref: 76] [Cited by in F6Publishing: 71] [Article Influence: 9.5] [Reference Citation Analysis]
6 Shimojima K, Shimada S, Tamasaki A, Akaboshi S, Komoike Y, Saito A, Furukawa T, Yamamoto T. Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination. Brain Dev 2014;36:315-21. [PMID: 23694757 DOI: 10.1016/j.braindev.2013.04.011] [Cited by in Crossref: 15] [Cited by in F6Publishing: 13] [Article Influence: 1.7] [Reference Citation Analysis]
7 Torii T, Miyamoto Y, Yamauchi J, Tanoue A. Pelizaeus-Merzbacher disease: Cellular pathogenesis and pharmacologic therapy: New insights into PMD mechanism. Pediatr Int 2014;56:659-66. [DOI: 10.1111/ped.12450] [Cited by in Crossref: 27] [Cited by in F6Publishing: 21] [Article Influence: 3.4] [Reference Citation Analysis]
8 Yamamoto T, Shimada S, Shimojima K. Fiber-fluorescence in situ hybridization analyses as a diagnostic application for orientation of microduplications. World J Med Genet 2013; 3(2): 5-8 [DOI: 10.5496/wjmg.v3.i2.5] [Reference Citation Analysis]
9 Yamamoto T, Shimojima K. Pelizaeus-Merzbacher disease as a chromosomal disorder. Congenit Anom (Kyoto). 2013;53:3-8. [PMID: 23480352 DOI: 10.1111/cga.12005] [Cited by in Crossref: 18] [Cited by in F6Publishing: 18] [Article Influence: 2.0] [Reference Citation Analysis]
10 Shimojima K, Okumura A, Hayashi M, Kondo T, Inoue H, Yamamoto T. CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly. Genomics 2015;106:196-203. [DOI: 10.1016/j.ygeno.2015.07.001] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 1.4] [Reference Citation Analysis]
11 Gillentine MA, Yin J, Bajic A, Zhang P, Cummock S, Kim JJ, Schaaf CP. Functional Consequences of CHRNA7 Copy-Number Alterations in Induced Pluripotent Stem Cells and Neural Progenitor Cells. Am J Hum Genet 2017;101:874-87. [PMID: 29129316 DOI: 10.1016/j.ajhg.2017.09.024] [Cited by in Crossref: 29] [Cited by in F6Publishing: 22] [Article Influence: 5.8] [Reference Citation Analysis]
12 Yamamoto-Shimojima K, Imaizumi T, Aoki Y, Inoue K, Kaname T, Okuno Y, Muramatsu H, Kato K, Yamamoto T. Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1. J Hum Genet 2019;64:665-71. [PMID: 31004103 DOI: 10.1038/s10038-019-0600-x] [Cited by in Crossref: 5] [Cited by in F6Publishing: 6] [Article Influence: 1.7] [Reference Citation Analysis]
13 Anderson RH, Francis KR. Modeling rare diseases with induced pluripotent stem cell technology. Mol Cell Probes 2018;40:52-9. [PMID: 29307697 DOI: 10.1016/j.mcp.2018.01.001] [Cited by in Crossref: 13] [Cited by in F6Publishing: 12] [Article Influence: 3.3] [Reference Citation Analysis]
14 Sabapathy V, Kumar S. hiPSC-derived iMSCs: NextGen MSCs as an advanced therapeutically active cell resource for regenerative medicine. J Cell Mol Med 2016;20:1571-88. [PMID: 27097531 DOI: 10.1111/jcmm.12839] [Cited by in Crossref: 47] [Cited by in F6Publishing: 46] [Article Influence: 7.8] [Reference Citation Analysis]
15 Nevin ZS, Factor DC, Karl RT, Douvaras P, Laukka J, Windrem MS, Goldman SA, Fossati V, Hobson GM, Tesar PJ. Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes. Am J Hum Genet 2017;100:617-34. [PMID: 28366443 DOI: 10.1016/j.ajhg.2017.03.005] [Cited by in Crossref: 40] [Cited by in F6Publishing: 37] [Article Influence: 8.0] [Reference Citation Analysis]
16 Yamamoto T, Matsuo M, Shimada S, Sangu N, Shimojima K, Aso S, Saito K. De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features. Mol Cytogenet 2013;6:15. [PMID: 23552394 DOI: 10.1186/1755-8166-6-15] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.4] [Reference Citation Analysis]
17 Shimada S, Hirasawa K, Takeshita A, Nakatsukasa H, Yamamoto-Shimojima K, Imaizumi T, Nagata S, Yamamoto T. Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome. Am J Med Genet A 2018;176:2803-7. [PMID: 30152144 DOI: 10.1002/ajmg.a.40500] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]