論文

英文

• Maruo Y, Sato H, Yamano T, Doida Y, Shimada M. Gilbert syndrome caused by a homozygousmissense mutation (Tyr486Asp) of bilirubinUDP-glucuronosyltransferase gene. J Pediatr. 132: 1045-1047, 1998
• Maruo Y, Nishizawa K, Sato H, Doida Y, Shimada M. Association of neonatal hyperbilirubinemia with bilirubin UDP-glucuronosyltransferase polymorphism. Pediatrics. 103: 1224-1227,1999
• Ishihara T, Gabazza EC, Adachi Y, Sato H, Maruo Y. Genetic basis of fasting hyperbilirubinemia. Gastroenterology 116: 1272, 1999
• Maruo Y, Nishizawa K, Sato H, Sawa H, Shimada M. Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate-glucuronosyltransferase gene. Pediatrics. 106: e59, 2000
• Maruo Y, D'Addario C, Mori A, Iwai M, Takahashi H, Sato H, Takeuchi Y. Two linked polymorphic mutations (A (TA) 7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome. Hum genet. 115: 525-526, 2004
• Maruo Y, Takahashi H, Ikumi S, Nishikura N, Matui K, Ota Y, Mimura Y, Mori A, Sato H, Takeuchi Y. Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 (DUOX2) gene in Japanese patients detected by a neonatal screening program. J Clin Endocrinol Metab. 93: 4261-4267, 2008
• Maruo Y, Morioka Y, Fujito H, Nakahara S, Yanagi T, Matsui K, Mori A, Sato H, Tukey RH, Takeuchi Y. Bilirubin uridine diphosphate-glucuronosyltransferase variation is a genetic basis of breast milk jaundice. J Pediatr. 165: 36-41, 2014
• Maruo Y, Nakahara S, Yanagi T, Nomura A, Mimura Y, Matsui K, Sato H, Takeuchi Y. Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type II and Gilbert syndrome. J Gastroenterol Hepatol. 31: 403-408, 2016
• Maruo Y, Nagasaki K, Matsui K, Mimura Y, Mori A, Fukami M, Takeuchi Y. Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty. European Journal of Endocrinology 174: 453-463, 2016
• Nomura A, Maruo Y, Taga T, Takeuchi Y. Contribution of UGT1A1 variations to chemotherapy-induced unconjugated hyperbilirubinemia in pediatric leukemia patients. Pediatr Res. 80:252-7, 2016
• Tsujita Y, Mitsui-Sekinaka K, Imai K, Yeh TW, Mitsuiki N, Maruo Y, et al. Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency. J Allergy Clin Immunol. 138:1672-1680,2016
• Yanagi T, Nakahara S, Maruo Y. Bilirubin Uridine Diphosphate-glucuronosyltransferase Polymorphism as a Risk Factor for Prolonged Hyperbilirubinemia in Japanese Preterm Infants. J Pediatr. 190:159-16, 2017
• Okano T, Imai K, Tsujita Y, Mitsuiki N, Yoshida K, Maruo Y, et al. Hematopoietic stem cell transplantation for progressive combined immunodeficiency and lymphoproliferation in patients with activated phosphatidylinositol-3-OH kinase δ syndrome type 1. J Allergy Clin Immunol. 143:266-275, 2019
• Tagawa K, Maruo Y, Mimura Y, Ikushiro S. Effects of common genetic variants of human uridine diphosphate glucuronosyltransferase subfamilies on irinotecan glucuronidation. Toxicol Mech Methods. 33:197-205, 2023

学会発表

• Maruo Y, Ito M, Iwai M, Mori A, Sato H, Takeuchi Y. A common mutation of UGT1 family (Y486D) and drug metabolism. 10th Meeting of the Pacific Rim Association for Clinical Pharmacogenetics. 2002. Osaka, Japan
• Maruo Y, Sato H, Iwai M, Ito M, Mori A, Takahashi H, Takeuchi Y. UGT1A1polymorphism and neonatal hyeprbilirubinemia. 10th International workshop glucuronidation. 2004. Himeji, Japan
• Maruo Y, Mori A, Iwai M, Takahashi H, Yamamoto K, Sato H, Takeuchi Y. Relationship between serum bilirubin concentration and genotype in 110 Japanese patients with Gilbert syndrome or Crigler-Najjar syndrome type II. 11th International Workshop on Glucuronidation. 2004. Scotland, UK
• Maruo Y. Differential diagnosis of Gilbert syndrome and Crigler-Najjar syndrome type II based on genotypes of UGT1A1. The 12th International Glucuronidation and UGT Workshop. 2008. Quebec City, Canada
• Maruo Y, Mori A, Takahashi H, Matsui K, Mimura Y, Ota Y, Iwai M, Sato H, Takeuchi Y. Differential diagnosis of Gilbert syndrome and Crigler-Najjar syndrome type II based on genotypes of UGT1A1. The 1st Asian Congress for Inherited Metabolic Diseases in Fukuoka 2010. Fukuoka, Japan
• Maruo Y, Yanagi T, Tukey RH. Bilirubin UDP-Glucuronosyltransferase Variation Is a Genetic Basis of Breast Milk Jaundice. Pediatric Academic Societies, annual Meeting. 2015. San Diego, USA
• Maruo Y. Polymorphism of UDP-glucuronosyltransferase and drug metabolism. 12th Annual Meeting of Pacific Rim Association for Clinical Pharmacogenetics (PRACP). 2005. Kyoto, Japan
• Maruo Y, Matsui K, Sato H, Takeuchi Y. Genetic analysis of hereditary unconjugated hyperbilirubinemias (Crigler-Najjar syndrome type I, type II, Gilbert syndrome and breast milk jaundice) caused by mutations of bilirubin UDP-glucuronosyltransferase gene (UGT1A1). BIT's 1st Annual World Congress of Endobolism (WCE)-2011. 2011. Xiamen, China
• Maruo Y. Neonatal hyperbilirubinemia and bilrubin UDP-glucuronosyltransferase. Pediatric Academy Societies and Asian Society for Pediatric Research 2011 Joint Meeting. 2011. Denver, USA.

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