学校法人順天堂　研究者情報データベース:::研究業績詳細:::

HOME　＞　研究業績詳細

研究業績詳細

岡崎敦子（オカザキアツコ）

研究テーマ	ミトコンドリア病、遺伝統計学、ミトコンドリア心筋症
研究業績（論文）	1. Atsuko Imai-Okazaki, Yagi N, Nitta RK, Murayama K, Ohtake A, Okazaki Y. Clinical heterogeneity in patients with m.4412G>A MT-TM mutation and different heteroplasmy levels.　Mitochondrion. 2021. (in press) 2. Frazier AE, Compton AG, Kishita Y, Hock D, Welch AE, Amarasekara C, Rius R, Formosa E,　Atsuko Imai-Okazaki, …., Christodoulou J, Thorburn D. Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in ATAD3 locus. Med. 2021;e10.49-73. 3. Atsuko Okazaki, Yamazaki S, Inoue I, Ott J. Population Genetics: Past, Present, and Future. Human Genet. 2020;8.1-10. (Review) 4. Kishita Y, Shimura M, Kohda M, Akita M, Atsuko Imai-Okazaki, Yatsuka Y, Nakajima Y, Ito T, Ohtake A, Murayama K, Okazaki Y. A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome. Mol Genet Genomic Med. 2020;10.e1427. 5. Takeda A, Murayama K, Okazaki Y, Atsuko Imai-Okazaki, Ohtake A, Takakuwa E, Yamazawa H, Izumi G, Abe J, Nagai A, Taniguchi K, Sasaki D, Tsujioka T, Basgen JM. J Clin Pathol. 2020;206801. 6. Borna NN, Kishita Y, Abe J, Furukawa T, Ogawa-Tominaga M, Fushimi T, Atsuko Imai-Okazaki, Takeda A, Ohtake A, Murayama K, Okazaki Y. NAD(P)HX dehydrogenase protein-truncating mutations are associated with neurodevelopmenta disorder exacerbated by acute illness. Brain. 2020;143.e54. 7. Atsuko Imai-Okazaki, Li Y, Horpaopan S, Riazalhosseini Y, Garshasbi M, Mosse P, Zhang D, Schrauwen I, Sharma A, Fann CSJ, Leal SM, Lathrop M, Ott J. Heterozygosity mapping for human dominant trait variants. Hum Mutat. 2019;40:996-1004. 8. Atsuko Imai-Okazaki, Kishita Y, Kohda M, Mizuno Y, Fushimi T, Matsunaga A, Yatsuka Y, Hirata T, Harashima H, Takeda A, Nakaya A, Sakata Y, Kogaki S, Ohtake A, Murayama K, Okazaki Y. Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background. Int J Cardiol. 2019;279:115-121. 9. Atsuko Imai-Okazaki, Kishita Y, Kohda M, Yatsuka Y, Hirata T, Mizuno Y, Harashima H, Hirono K, Ichida F, Noguchi A, Yoshida M, Tokorodani C, Nishiuchi R, Takeda A, Nakaya A, Sakata Y, Murayama K, Ohtake A, Okazaki Y. Barth Syndrome: Different Approaches to Diagnosis. J Pediatr. 2018;193:256-260. 10. Atsuko Imai-Okazaki, Jurg Ott. Genetic Linkage Mapping. eLS. 2018;10:1002 11. Atsuko Imai-Okazaki, Kohda M, Kobayashi K, Hirata T, Sakata Y, Murayama K, Ohtake A, Okazaki Y, Nakaya A, Ott J. HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencing. Hum Mutat. 2017;38:1796-1800. 12. Yamamoto S, Kaimori JY, Yoshimura T, Namba T, Atsuko Imai, Kobayashi K, Imamura R, Ichimaru N, Kato K, Nakaya A, Takahara S, Isaka Y. Analysis of an ADTKD family with a novel frameshift mutation in MUC1 reveals characteristic features of mutant MUC1 protein. Nephrol Dial Transplant. 2017;32:2010-2017. 13. Kondo H, Maksimova N, Otomo T, Kato H, Atsuko Imai, Asano Y, Kobayashi K, Nojima S, Nakaya A, Hamada Y, Irahara K, Gurinova E, Sukhomyasova A, Nogovicina A, Savvina M, Yoshimori T, Ozono K, Sakai N. Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms. Hum Mol Genet. 2017;26.173-183. 14. Kitagaki J, Miyauchi S, Asano Y, Atsuko Imai, Kawai S, Michikami I, Yamashita M, Yamada S, Kitamura M, Murakami S. A Putative Association of a Single Nucleotide Polymorphism in GPR126 with Aggressive Periodontitis in a Japanese Population. PLoS One. 2016;11.e0160765. 15. Atsuko Imai, Kishita Y, Nakayama Y, Fujita S, Futatani T, Kohda M, Yatsuka Y, Nakaya A, Sakata Y, Murayama K, Ohtake A, Okazaki Y. Dried blood spots for newborn screening allows easy determination of a high heteroplasmy rate in severe infantile cardiomyopathy. Int J Cardiol. 2016;221:446-9. 16. Atsuko Imai, Kohda M, Nakaya A, Sakata Y, Murayama K, Ohtake A, Lathrop M, Okazaki Y, Ott J. HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families. J Hum Genet. 2016;61:959-963. 17. Atsuko Imai, Fujita S, Kishita Y, Kohda M, Tokuzawa Y, Hirata T, Mizuno Y, …., Nakaya A, Sakata Y, Takeda A, Mori M, Murayama K, Ohtake A, Okazaki Y. Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein. Int J Cardiol. 2016;207:203-5. 18. Atsuko Imai, Nakaya A, Fahiminiya S, Tétreault M, Majewski J, Sakata Y, Takashima S, Lathrop M, Ott J. Beyond Homozygosity Mapping: Family-Control analysis based on Hamming distance for prioritizing variants in exome sequencing. Sci Rep. 2015;5:12028. 19. Li Y, Cagirici HB, Horpaopan S, Ott J, Atsuko Imai, Majewski J, Lathrop M. Leveling the Playing Field in Homozygosity Mapping Using Map Distances. Ann Hum Genet. 2015; 79:366-372. 20. Komatsu S, Ohara T, Takahashi S, Takewa M, Minamiguchi H, Atsuko Imai, Kobayashi Y, Iwa N, Yutani C, Hirayama A, Kodama K. Early detection of vulnerable atherosclerotic plaque for risk reduction of acute aortic rupture and thromboemboli and atheroemboli using non-obstructive angioscopy. Circ J. 2015;79:742-50.

研究テーマ

ミトコンドリア病、遺伝統計学、ミトコンドリア心筋症

研究業績（論文）

1. Atsuko Imai-Okazaki, Yagi N, Nitta RK, Murayama K, Ohtake A, Okazaki Y*. Clinical heterogeneity in patients with m.4412G>A MT-TM mutation and different heteroplasmy levels.　Mitochondrion. 2021. (in press)
2. Frazier AE, Compton AG, Kishita Y, Hock D, Welch AE, Amarasekara C, Rius R, Formosa E,　Atsuko Imai-Okazaki, …., Christodoulou J*, Thorburn D*. Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in ATAD3 locus. Med. 2021;e10.49-73.
3. Atsuko Okazaki, Yamazaki S, Inoue I, Ott J*. Population Genetics: Past, Present, and Future. Human Genet. 2020;8.1-10. (Review)
4. Kishita Y, Shimura M, Kohda M, Akita M, Atsuko Imai-Okazaki, Yatsuka Y, Nakajima Y, Ito T, Ohtake A, Murayama K, Okazaki Y*. A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome. Mol Genet Genomic Med. 2020;10.e1427.
5. Takeda A*, Murayama K, Okazaki Y, Atsuko Imai-Okazaki, Ohtake A, Takakuwa E, Yamazawa H, Izumi G, Abe J, Nagai A, Taniguchi K, Sasaki D, Tsujioka T, Basgen JM. J Clin Pathol. 2020;206801.
6. Borna NN, Kishita Y, Abe J, Furukawa T, Ogawa-Tominaga M, Fushimi T, Atsuko Imai-Okazaki, Takeda A, Ohtake A, Murayama K, Okazaki Y*. NAD(P)HX dehydrogenase protein-truncating mutations are associated with neurodevelopmenta disorder exacerbated by acute illness. Brain. 2020;143.e54.
7. Atsuko Imai-Okazaki, Li Y, Horpaopan S, Riazalhosseini Y, Garshasbi M, Mosse P, Zhang D, Schrauwen I, Sharma A, Fann CSJ, Leal SM, Lathrop M, Ott J*. Heterozygosity mapping for human dominant trait variants. Hum Mutat. 2019;40:996-1004.
8. Atsuko Imai-Okazaki, Kishita Y, Kohda M, Mizuno Y, Fushimi T, Matsunaga A, Yatsuka Y, Hirata T, Harashima H, Takeda A, Nakaya A, Sakata Y, Kogaki S, Ohtake A, Murayama K, Okazaki Y*. Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background. Int J Cardiol. 2019;279:115-121.
9. Atsuko Imai-Okazaki, Kishita Y, Kohda M, Yatsuka Y, Hirata T, Mizuno Y, Harashima H, Hirono K, Ichida F, Noguchi A, Yoshida M, Tokorodani C, Nishiuchi R, Takeda A, Nakaya A, Sakata Y, Murayama K, Ohtake A, Okazaki Y*. Barth Syndrome: Different Approaches to Diagnosis. J Pediatr. 2018;193:256-260.
10. Atsuko Imai-Okazaki, Jurg Ott*. Genetic Linkage Mapping. eLS. 2018;10:1002
11. Atsuko Imai-Okazaki*, Kohda M, Kobayashi K, Hirata T, Sakata Y, Murayama K, Ohtake A, Okazaki Y*, Nakaya A, Ott J. HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencing. Hum Mutat. 2017;38:1796-1800.
12. Yamamoto S, Kaimori JY*, Yoshimura T, Namba T, Atsuko Imai, Kobayashi K, Imamura R, Ichimaru N, Kato K, Nakaya A, Takahara S, Isaka Y. Analysis of an ADTKD family with a novel frameshift mutation in MUC1 reveals characteristic features of mutant MUC1 protein. Nephrol Dial Transplant. 2017;32:2010-2017.
13. Kondo H, Maksimova N, Otomo T, Kato H, Atsuko Imai, Asano Y, Kobayashi K, Nojima S, Nakaya A, Hamada Y, Irahara K, Gurinova E, Sukhomyasova A, Nogovicina A, Savvina M, Yoshimori T, Ozono K, Sakai N*. Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms. Hum Mol Genet. 2017;26.173-183.
14. Kitagaki J, Miyauchi S, Asano Y, Atsuko Imai, Kawai S, Michikami I, Yamashita M, Yamada S, Kitamura M, Murakami S*. A Putative Association of a Single Nucleotide Polymorphism in GPR126 with Aggressive Periodontitis in a Japanese Population. PLoS One. 2016;11.e0160765.
15. Atsuko Imai, Kishita Y, Nakayama Y, Fujita S, Futatani T, Kohda M, Yatsuka Y, Nakaya A, Sakata Y, Murayama K, Ohtake A, Okazaki Y*. Dried blood spots for newborn screening allows easy determination of a high heteroplasmy rate in severe infantile cardiomyopathy. Int J Cardiol. 2016;221:446-9.
16. Atsuko Imai, Kohda M, Nakaya A, Sakata Y, Murayama K, Ohtake A, Lathrop M, Okazaki Y, Ott J*. HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families. J Hum Genet. 2016;61:959-963.
17. Atsuko Imai, Fujita S, Kishita Y, Kohda M, Tokuzawa Y, Hirata T, Mizuno Y, …., Nakaya A, Sakata Y, Takeda A, Mori M, Murayama K, Ohtake A, Okazaki Y*. Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein. Int J Cardiol. 2016;207:203-5.
18. Atsuko Imai, Nakaya A, Fahiminiya S, Tétreault M, Majewski J, Sakata Y, Takashima S, Lathrop M, Ott J*. Beyond Homozygosity Mapping: Family-Control analysis based on Hamming distance for prioritizing variants in exome sequencing. Sci Rep. 2015;5:12028.
19. Li Y, Cagirici HB, Horpaopan S, Ott J*, Atsuko Imai, Majewski J, Lathrop M. Leveling the Playing Field in Homozygosity Mapping Using Map Distances. Ann Hum Genet. 2015; 79:366-372.
20. Komatsu S, Ohara T, Takahashi S, Takewa M, Minamiguchi H, Atsuko Imai, Kobayashi Y, Iwa N, Yutani C, Hirayama A, Kodama K*. Early detection of vulnerable atherosclerotic plaque for risk reduction of acute aortic rupture and thromboemboli and atheroemboli using non-obstructive angioscopy. Circ J. 2015;79:742-50.

研究者

教育活動

【学校法人順天堂】研究者情報データベース

研究業績詳細

岡崎 敦子（オカザキ アツコ）

岡崎敦子（オカザキアツコ）