p.103 抽出テキスト

mutation in PRKG 1 causes thoracic aortic aneurysms and acute aortic dissections. Am J Hum Genet 2013; 93: 398- 404. PMID: 23910461 376. Khan N, Schinzel A, Shuknecht B, et al. Moyamoya angiopathy with dolichoectatic internal carotid arteries, patent ductus arteriosus and pupillary dysfunction: a new genetic syndrome? Eur Neurol 2004; 51: 72-77. PMID: 14730227 377. Lemire BD, Buncic JR, Kennedy SJ, et al. Congenital mydriasis, patent ductus arteriosus, and congenital cystic lung disease: New syndromic spectrum? Am J Med Genet A 2004; 131: 318- 319. PMID: 15472996 378. Milewicz DM, Østergaard JR, Ala-Kokko LM, et al. De novo ACTA 2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. Am J Med Genet A 2010; 152A: 2437- 2443. PMID: 20734336 379. Regalado ES, Mellor-Crummey L, De Backer J, et al. Montalcino Aortic Consortium. Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA 2 arginine 179 alterations. Genet Med 2018; 20: 1206-1215. PMID: 29300374 380. Kuang SQ, Kwartler CS, Byanova KL, et al. Rare, nonsynonymous variant in the smooth muscle-specific isoform of myosin heavy chain, MYH 11, R 247C, alters force generation in the aorta and phenotype of smooth muscle cells. Circ Res 2012; 110: 1411- 1422. PMID: 22511748 381. Negishi K, Aizawa K, Shindo T, et al. An Myh11 single lysine deletion causes aortic dissection by reducing aortic structural integrity and contractility. Sci Rep 2022; 12: 8844. PMID: 35614093 382. Wang L, Guo DC, Cao J, et al. Mutations in myosin light chain kinase cause familial aortic dissections. Am J Hum Genet 2010; 87: 701-707. PMID: 21055718 383. Kuang SQ, Medina-Martinez O, Guo DC, et al. FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. J Clin Invest 2016; 126: 948-961. PMID: 26854927 384. Coucke PJ, Willaert A, Wessels MW, et al. Mutations in the facilitative glucose transporter GLUT 10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet 2006; 38: 452- 457. PMID: 16550171 385. Matura LA, Ho VB, Rosing DR, et al. Aortic dilatation and dissection in Turner syndrome. Circulation 2007; 116: 1663- 1670. PMID: 17875973 386. Guo DC, Regalado ES, Gong L, et al. LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. Circ Res 2016; 118: 928-934. PMID: 26838787 387. Salmasi MY, Alwis S, Cyclewala S, et al. Members of the London Aortic Mechanobiology Working Group.The genetic basis of thoracic aortic disease: The future of aneurysm classification? Hellenic J Cardiol 2023;69: 41-50. PMID: 36202327 388. Yoshida M, Kimura A, Katsuragi K, et al. DNA typing of HLA-B gene in Takayasu’s arteritis. Tissue Antigens 1993; 42: 87- 90. PMID: 7903491 389. Yajima M, Numano F, Park YB, et al. Comparative studies of patients with Takayasu arteritis in Japan, Korea and India ― Comparison of clinical manifestations, angiography and HLA-B antigen. Jpn Circ J 1994; 58: 9-14. PMID: 7908064 390. Terao C, Yoshifuji H, Kimura A, et al. Two susceptibility loci to Takayasu arteritis reveal a synergistic role of the IL 12B and HLA-B regions in a Japanese population. Am J Hum Genet 2013; 93: 289-297. PMID: 23830516 391. Sahin Z, Bıcakcıgil M, Aksu K, et al. Turkish Takayasu Study Group. Takayasu’s arteritis is associated with HLA-B*52, but not with HLA-B* 51, in Turkey. Arthritis Res Ther 2012; 14: R 27. PMID: 22309845 392. Saruhan-Direskeneli G, Hughes T, Aksu K, et al. Identification of multiple genetic susceptibility loci in Takayasu arteritis. Am J Hum Genet 2013; 93: 298-305. PMID: 23830517 393. Takamura C, Ohhigashi H, Ebana Y, et al. New human leukocyte antigen risk allele in Japanese patients with Takayasu arteritis. Circ J 2012; 76: 1697-1702. PMID: 22664757 394. Terao C, Yoshifuji H, Ohmura K, et al. Association of Takayasu arteritis with HLA-B 67: 01 and two amino acids in HLA-B protein. Rheumatology (Oxford) 2013; 52: 1769- 1774. PMID: 23873822 395. Matsumura T, Amiya E, Tamura N, et al. A novel susceptibility locus for Takayasu arteritis in the IL 12B region can be a genetic marker of disease severity. Heart Vessels 2016; 31: 1016- 1019. PMID: 25783557 396. Kadoba K, Watanabe R, Iwasaki T, et al. A susceptibility locus in the IL 12B but not LILRA 3 region is associated with vascular damage in Takayasu arteritis. Sci Rep 2021; 11: 13667. PMID: 34211061 397. Terao C, Yoshifuji H, Matsumura T, et al. Genetic determinants and an epistasis of LILRA3 and HLA-B*52 in Takayasu arteritis. Proc Natl Acad Sci U S A 2018; 115: 13045-13050. PMID: 30498034 398. Renauer PA, Saruhan-Direskeneli G, Coit P, et al. Identification of Susceptibility Loci in IL 6, RPS 9/LILRB 3, and an Intergenic Locus on Chromosome 21q22 in Takayasu Arteritis in a Genome- Wide Association Study. Arthritis Rheumatol 2015; 67: 1361- 1368. PMID: 25604533 399. Ortiz-Fernández L, Saruhan-Direskeneli G, Alibaz-Oner F, et al. Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study. Am J Hum Genet 2021; 108: 84-99. PMID: 33308445 400. Jennette JC, Falk RJ, Bacon PA, et al. 2012 revised International Chapel Hill Consensus Conference Nomenclature of Vasculitides. Arthritis Rheum 2013; 65: 1-11. PMID: 23045170 401. Kobayashi S, Yano T, Matsumoto Y, et al. Clinical and epidemiologic analysis of giant cell (temporal) arteritis from a nationwide survey in 1998 in Japan: the first government-supported nationwide survey. Arthritis Rheum 2003; 49: 594-598. PMID: 12910568 402. Weyand CM, Hunder NN, Hicok KC, et al. HLA-DRB1 alleles in polymyalgia rheumatica, giant cell arteritis, and rheumatoid arthritis. Arthritis Rheum 1994; 37: 514-520. PMID: 8147928 403. Weyand CM, Hicok KC, Hunder GG, et al. The HLA-DRB1 locus as a genetic component in giant cell arteritis. Mapping of a diseaselinked sequence motif to the antigen binding site of the HLA-DR molecule. J Clin Invest 1992; 90: 2355-2361. PMID: 1469092 404. Carmona FD, Vaglio A, Mackie SL, et al. Spanish CGA Group. A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis. Am J Hum Genet 2017; 100: 64-74. PMID: 28041642 405. Makino N, Nakamura Y, Yashiro M, et al. Nationwide epidemiologic survey of Kawasaki disease in Japan, 2015- 2016. Pediatr Int 2019; 61: 397-403. PMID: 30786118 406. Holman RC, Belay ED, Christensen KY, et al. Hospitalizations for Kawasaki syndrome among children in the United States, 1997- 2007. Pediatr Infect Dis J 2010; 29: 483-488. PMID: 20104198 407. Holman RC, Christensen KY, Belay ED, et al. Racial/ethnic differences in the incidence of Kawasaki syndrome among children in Hawai‘i. Hawaii Med J 2010; 69: 194-197. PMID: 20845285 408. Onouchi Y, Ozaki K, Burns JC, et al. Japan Kawasaki Disease Genome Consortium. A genome-wide association study identifies three new risk loci for Kawasaki disease. Nat Genet 2012; 44: 517-521. PMID: 22446962 409. Khor CC, Davila S, Breunis WB, et al. Genome-wide association study identifies FCGR 2A as a susceptibility locus for Kawasaki disease. Nat Genet 2011; 43: 1241-1246. PMID: 22081228 410. Lee YC, Kuo HC, Chang JS, et al. Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis. Nat Genet 2012; 44: 522-525. PMID: 22446961 411. Kim JJ, Yun SW, Yu JJ, et al. A genome-wide association analysis identifies NMNAT2 and HCP5 as susceptibility loci for Kawasaki disease. J Hum Genet 2017; 62: 1023-1029. PMID: 28855716 412. Onouchi Y, Gunji T, Burns JC, et al. ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms. Nat Genet 2008; 40: 35- 42. PMID: 18084290 413. Onouchi Y, Suzuki Y, Suzuki H, et al. ITPKC and CASP3 polymorphisms and risks for IVIG unresponsiveness and coronary artery lesion formation in Kawasaki disease. Pharmacogenomics J 2013; 13: 52-59. PMID: 21987091 414. Zhou Q, Yang D, Ombrello AK, et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med 2014; 370: 911-920. PMID: 24552284 415. Navon Elkan P, Pierce SB, Segel R, et al. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med 2014; 370: 921-931. PMID: 24552285 416. Caorsi R, Penco F, Grossi A, et al. ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study. Ann Rheum Dis 2017; 76: 1648-1656. PMID: 28522451 417. Nihira H, Izawa K, Ito M, et al. Detailed analysis of Japanese patients with adenosine deaminase 2 deficiency reveals characteristic elevation of type II interferon signature and STAT1 hyperactivation. J Allergy Clin Immunol 2021; 148: 550-562. PMID: 33529688 418. Meguro A, Inoko H, Ota M, et al. Genetics of Behçet disease inside and outside the MHC. Ann Rheum Dis 2010; 69: 747-754. PMID: 19684014 419. Mizuki N, Meguro A, Ota M, et al. Genome-wide association studies identify IL 23R-IL 12RB 2 and IL 10 as Behçet’s disease