1. Suzuki J, Takaku A. Cerebrovascular “moyamoya” disease. Disease showing abnormal net-like vessels in base of brain. Arch Neurol 20: 288-299, 1969.
2. Tominaga T, Suzuki N, Miyamoto S, Koizumi A, Kuroda S, Takahashi Jun C, et al. [Reccomendations for the management of moyamoya disease: a statement from research committee on spontaneous occlusion of the circle of Willis (Moyamoya disease) [2nd Edition]]. Surgery Cerebral Stroke 46:1-24, 2018 (Jpn).
3. Kamada F, Aoki Y, Narisawa A, et al. A genome-wide association study identifies RNF213 as the first moyamoya disease gene. J Hum Genet 56:34-40, 2011
4. Liu W, Morito D, Takashima S, et al. Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development. PLoS One 6:e22452, 2011
5. Miyatake S, Miyake N, Touho H, et al. Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease. Neurology 78; 803-10, 2012.
6. Komiyama M. Moyamoya disease is a progressive occlusive arteriopathy of the primitive internal carotid artery. Interv Neuroradiol 9: 39-45, 2003.
7. Jung KH, Chu K, Lee ST, et al. Circulating endothelial progenitor cells as a pathogenic marker of moyamoya disease. J Cerebr Blood Flow Metab 28;1795-803, 2008.
8. Kang HS, Kim JH, Phi JH, et al. Plasma matrix metalloproteinases, cytokines and angiogenic factors in moyamoya disease. J Neurol Neurosurg Psychiatry 81:673-8, 2010.
9. Blecharx-Lang KG, Prinz V, Burek M, et al. Gelatinolytic activity of autocrine matrix metalloproteinase-9 leads to endothelial de-rearrangement in moyamoya disease. J Cereb Blood Flow Metab 2018; 38; 1940-1953.
10. Fujimura M, Sonobe S, Nishijima Y, et al. Genetics and biomarkers of moyamoya disease: Siginificance of RNF213 as a susceptibility gene. J Stoke 16:65-72, 2014.
11. Houkin K, Ito M, Sugiyama T, et al. Review of past research and current concepts on the etiology of moyamoya disease. Neurol Med Chir (Tokyo) 52: 267-77, 2012.
12. Archol As, Guzman R, Lee M, et al. Pathophysiology and genetic factors in moyamoya disease. Neurosurg Focus 26:e4, 2009.
13. Tatekawa Y, Umezawa T, Ueno Y, et al. Pathological and immunohistochemical findings of an autopsy case of adult moyamoya disease. Neuropathology 24: 236- 242, 2004.
14. Takagi Y, Kikuta K, Nozaki K, et al. Histopathological features of middle cerebral arteries from patients treated for moyamoya disease. Neurol Med Chir (Tokyo) 47:1- 7, 2007.
15. Takagi Y, Hermanto Y, Takahashi JC, et al. Histopathological characteristics of distal middle cerebral artery in adult and pediatric patients with moyamoya disease. Neurol Med Chir (Tokyo) 56: 345-349, 2016.
16. Bower RS, Mallory GW, Nwojo M,et al. Moyamoya disease in primarily white, midwestern US population: Increased prevalence of autoimmune disease. Stroke 44:1997-1999, 2013
17. Chen BJ, Liu Y, Zhou LX, et al. Increased prevalence of autoimmune disease in patient with unilateral compared with bilateral moyamoya disease. J Neurosurg 124:1215-1220, 2016
18. Aoyagi M, Ogami K, Matsuchima Y, et al. Human leukocyte antigen in patients with moyamoya disease. Stroke 26:415-417, 1995.
19. Inoue TK, Ikezaki K, Sasazuki T, et al. Analysis of class 2 genes of human leukocyte antigen in patients with moyamoya disease. Clin Neurol Neurosurg 99 (Suppl 2): S234-7, 1997.
20. Han H, Pyo CW, Yoo DS, Huh PW, Cho KS, Kim DS. Associations of moyamoya patients with HLA class 1 and class II alleles in the Korean population. J Korean Med Sci 18:876-90, 2003.
21. Hong SH, Wang KC, Kim SK, et al. Association of HLA-DR and -DQ genes with familial moyamoya disease in Koreans. J Koran Neurosurg Soc 46:558-563, 2009.
22. Kraemer M, Horn PA, Roder C, et al. Analysis of human leukocyte antigen genes in Caucasian patients with idiopathic moyamoya angiopathy. Acta Neurochir (Wien) 154:445-454, 2012.
23. Fujimura M, Fujimura T, Kakizaki A, Sato-Maeda N, Niizuma K, Tomata Y, et al: Increased serum production of soluble CD163 and CXCL5 in patients with moyamoya disease: Involvement of intrinsic immune reaction in its pathogenesis. Brain Res 1679:39-44, 2018.
24. Kanoke A, Fujimura M, Niizuma K, et al. Temporal profile of magnetic resonance angiography and decrease ratio of regulatory T cells after immunological adjuvant administration to mice lacking RNF213, a susceptibility gene for moyamoya disease. Brain Res 2016; 1642: 1-9.
25. Dendrou CA, Petersen J, Rossjohn J, Fugger L. HLA variation and disease. Nat Rev Immunol 18:325-339, 2018.
26. Hosomichi K, Shiina T, Tajima A, et al. The impact of next-generation sequencing technologies on HLA research. J Hum Genet 60: 665-673, 2015.
27. Shiina T, Suzuki S, Kulski JK,et al. Super high resolution for single molecule-based typing of classical HLA loci using Ion Torrent PGM. Methods in molecular Biology 1802:115-133, 2018.
28. Ohkubo K, Sakai Y, Inoue H, et al. Moyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cells. Sci Rep 5: 13191, 2015.
29. Kobayashi H, Matsuda T, Hitomi T, et al. Biochemical and functional characterization of RNF213 (Mysterin) R4810K, a susceptibility mutation of moyamoya disease, in angiogenesis in vitro and in vivo. J Am Heart Assoc 4:e002146, 2015.
30. Bahn RS, Iorio C, Marcotte R, et al. PTP1B controls non-mitochondrial consumption by regulating RNF213 to promote tumor survival during hypoxia. Nat Cell Biol 18:803-813, 2016.
31. Hitomi T, Habu T, Kobayashi H, et al. The moyamoya disease susceptibility variant RNF213 R4810K (rs11275431) induces genomic instability by mitotic abnormality. Biochem Biophys Rs Coomun 439:419-26, 2013.
32. Hitomi T, Habu T, Kobayashi H, et al. Downregulation of Securin by the variant RNF213 R4810K (rs112735431, G>A) reduces angiogenic activity of induced pluripotent stem-cell-derived vascular endothelial cells from moyamoya patients. Biochem Biophys Res Commun 438:13-9, 2013.
33. Kanoke A, Fujimura M, Niizuma K, et al. Temporal profile of the vascular anatomy evaluated by 9.4T-tesla magnetic resonance angiography and histological analysis in mice with the R4859K mutation of RNF213, the susceptibility gene for moyamoya disease. Brain Res 1624: 497-505, 2015.
34. Sonobe S, Fujimura M, Niizuma K, et al. Temporal prfile of the vascular anatomy evaluated by 9.4-T magnetic resonance angiography and histopathological analysis in mice lacking RNF213: a susceptibility gene for moyamoya disease. Brain Res 1552; 64-71, 2014.
35. Miyawaki S, Imai H, Shimizu H, et al. Genetic variant RNF213 c.14576G>A in various phenotypes of intracranial major artery stenosis/occlusion. Stroke 44:2894- 97, 2013.
36. Morimoto T, Minehary Y, Ono K, et al. Significant association of RNF213 p.R4810K, a moyamoya susceptibility variant, with coronary artery disease. PLoS One 12: e0175649, 2017.
37. Chang SA, Song JS, Park TK, et al. Nonsyndromic peripheral pulmonary artery stenosis is associated with homozygositu of RNF213 p.Arg4810Lys regardless of co-occurrence of moyamoya disease. Chest 153:404-413, 2018.
38. Komiyama M. Cardio-cephalic neural crest syndrome: A novel hypothesis of vascular neurocristopathy. Interv Neuroradiol 23:572-576, 2017.
39. Jiang X, cheng ZJ. The role of ubiquitylation in immune defense and pathogen invasion. Nat Rev Immunol 12: 35-48, 2011.
40. Waleseng E, Furuta K, Bosch B, et al. Ubiquitination regulates MHC class II- peptide complex retention and degradation in dendritic cells. Proc Natl Acad Sci USA 107: 20465-20470, 2010.
41. Baravalle G, Park H, McSweeney M, et al. Ubiquitination of CD86 is a key mehchanism in regulating antigen presentation by dendritic cells. J Immunol 187:2966-2973, 2011.
42. Corocoran K, Jabbour M, Bhagwandin C, et al. Ubiquitin-mediated regulation of cd86 protein expression by the ubiquitin ligase membrane-associated ring-ch-1 (march1). J Biol Chem 286:37168-37180, 2011.
43. Tze LE, Horikawa K, Domachenz H, et al. CD83 increased MHC II and CD86 on dendritic cells by opposing IL-10-driven MARCH1-mediated ubiquitination and degradation. J Exp Med 208:149-165, 2011.
44. Ohmura-Hoshino M, Matsuki Y, et al. Inhibition of MHC class II expression and immune responses by c-MIR. J Immunol 177:341-354, 2006.
45. Kitaura Y, Jang IK, Wang Y, et al. Control of the B cell-intrinsic tolerance programs by ubiquitin ligases Cbl and Cbl-b. Immunity 26:567-578, 2007.
46. Katere B, Rosa S, Drake JR. The Syk-binding ubiquitin ligase c-Cbl mediates signaling-dependent B cell receptor ubiquitination and B cell receptor-mediated antigen processing and presentation. J Biol Chem 287:16636-16644, 2012.
47. Elliott MR, Ravichandran KS. Pallbearer and friends: leading a hand in apoptotic cell clearance. Trends Cell Biol 18:95-97, 2008.
48. Silva E, Au-Yueng HW, Van Goethem E, et al. Requirement for a drosophia Er- ubiquitin ligase in phagocytosis of apoptotic cells. Immunity 27:585-59, 2007.
49. Duan L, Wei L, Tian Y, et al. Novel susceptibility loci for moyamoya disease revealed by a genome-wide association study. Stroke 49:11-18, 2018
50. Itabashi R, Mori E, Furui E, et al. A dilated surface appearance on basiparallel anatomic scanning-magnetic resonance imaging is a useful tool for the diagnosis of spontaneous vertebral artery dissection in lateral medullary infarction. J Stroke Cerebrovasc Dis 23: 805-810, 2014.
51. Ueta M, Kannabiran C, Wakamatsu TH, et al. Tran-ethnic study confirmed independent associations of HLA-A*02:06 and HLA-B*44:03 with cold medicine-related Stevens-Johnson syndrome with severe ocular surface complications. Sci Rep 4:e5891, 2014.
52. Yasunami M, Nakamura H, Tokunaga K, et al. Principal contribution of HLA-DQ alleles, DQB1*06:04 and DQB1*03:01, to disease resistance against primary biliary cholangitis in a Japanese population. Sci Rep 7:e11093, 2017.
53. Pappas DJ, Marin W, Hollenbach JA, et al. Bridging immunogenomic data analysis workflow gaps (bigdawg): an integrated case-control analysis pipeline. Hum Immunol 77:283-287, 2016.
54. Lewontin RC. The interaction of selection and linkage. I General considerations; Heterotic models. Genetics 49;49-67, 1964.
55. Excoffier L, Slatkin M. Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population. Mol Biol Evol 12:921-927, 1995.
56. Endo H, Fujimura M, Niizuma K, et al. Efficacy of revascularization surgery for moyamoya syndrome associated with Graves’ disease. Neurol Med Chir (Tokyo) 50:977-983, 2010.
57. Ahn JH, Jeon JP, Ki JE, et al. Association of hyperthyroidism an thyroid autoantibodies with moyamoya disease and its stroke events: a population-based case-control study and meta-analysis. Neurol Med Chir (Tokyo) 15:116-123, 2018.
58. Kim SJ, Heo KG, Shin HY, Bang OY, Kim GM, Chung CS, et al. Association of thyroid autoantibodies with moyamoya-type cerebrovascular disease: a prospective study. Stroke 1:173-176, 2010.
59. Sasazuki T, Inoko H, Morishima S, et al. Gene map of the HLA region, Graves’ disease and Hashimoto thyroiditis and hematopoietic stem cell transplantation. Advances in immunology 129:175-249, 2016.
60. Zeitlin AA, Heward JM, Newby PR, et al. Analysis of HLA class II genes in Hashimoto’s thyroiditis reveals differences compared to graves’ disease. Genes Immun 9:358-363, 2008.
61. Nakabayashi K, Tajima A, Yamamoto K, et al. Identification of independent risk loci for Graves’ disease within the MHC in the Japanese population. J Hum Genet 56:772-778, 2011.
62. Ueda S, Oryoji D, Yamamoto K, et al. Analysis of HLA class Ⅱ genes in Japanese autoimmune thyroid disease and their epistasis. J Clin Endocrinol Metab 99:e379- 383, 2014.
63. Shindo Y, Inoko H, Yamamoto T, et al. HLA-DRB1typing of Vogt-Koyanagi- Harada’s disease by PCR-RFLP and the strong association with DRB1*0405 and DRB1*0410. Br J Opthalmol 78:223-6, 1994.
64. Nomura S, Matsuzaki T, Ozaki Y, et al. Clinical significance of HLA-DRB1*0410 in Japanese patients with idiopathic thrombocytopenic purpura. Blood 15:3616-22, 1998.
65. Kim YJ, Lee JK, Ahn SH, et al. Nonatherosclerotic isolated middle cerebral artery disease may be early manifestation of moyamoya disease. Stroke 47:2229-2235, 2016.
66. Kim JS, LeeHB, Kwon HS.RNF213 polymorphism in intracranial artery dissection. J Stroke, 20: 404-406, 2018.
67. Shinya Y, Miyawaki S, Imai H, et al. Genetic analysis of Ring Finger Protein 213 (RNF213) c.14576G>A in intracranial atherosclerosis of the anterior and posterior circulations. J Stroke Cerebrovasc Dis 26: 2638-2644, 2017.
68. Roche PA, Furuta K. The ins and outs of MHC class II-mediated antigen processing and presentation. Nat Rev Immunol 15:203-16, 2015.
69. Chung JW, Kim DH, Oh MJ, et al. Cav-1 (Caveolin-1) and arterial remodeling n adult moyamoya disease. Stroke 49:2597-2604, 2018.
70. Kaul A, Gordon C, Crow MK, et al. Systemic lupus erythematosus. Nat Rev Dis Primers 2:16039, 2016.
論文の公開元へ
