>>2000年以前の業績はこちら

2023年

1. Nagai K, Niihori T, Muto A, Hayashi Y, Abe T, Igarashi K, Aoki Y. Mecom mutation related to radioulnar synostosis with amegakaryocytic thrombocytopenia reduces HSPCs in mice. Blood Adv 7:5409-5420, 2023.
2. Izumi R, Ikeda K, Niihori T, Suzuki N, Shirota M, Funayama R, Nakayama K, Warita H, Tateyama M, Aoki Y, Aoki M. Nuclear pore pathology underlying multisystem proteinopathy type 3-related inclusion body myopathy Ann Clin Transl Neurol . 2023 Dec 29. doi: 10.1002/acn3.51977. Online ahead of print.
3. Abe T, Kanno SI, Niihori T, Terao M, Takada S, Aoki Y. LZTR1 deficiency exerts high metastatic potential by enhancing sensitivity to EMT induction and controlling KLHL12-mediated collagen secretion. Cell Death Dis. 14(8):556, 2023
4. Kume K, Kurashige T, Muguruma K, Morino H, Tada Y, Kikumoto M, Miyamoto T, Akutsu SN, Matsuda Y, Matsuura S, Nakamori M, Nishiyama A, Izumi R, Niihori T, Ogasawara M, Eura N, Kato T, Yokomura M, Nakayama Y, Ito H, Nakamura M, Saito K, Riku Y, Iwasaki Y, Maruyama H, Aoki Y, Nishino I, Izumi Y, Aoki M, Kawakami H. CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis. Am J Hum Genet. 110(7):1086-1097, 2023.
5. Okubo Y, Shibuya M, Nakamura H, Kawashima A, Kodama K, Endo W, Inui T, Togashi N, Aihara Y, Shirota M, Funayama R, Niihori T, Fujita A, Nakayama K, Aoki Y, Matsumoto N, Kure S, Kikuchi A, Haginoya K. Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A. Brain Dev. 45(9):505-511, 2023.
6. Kawamura M, Shirota H, Niihori T, Komine K, Takahashi M, Takahashi S, Miyauchi E, Niizuma H, Kikuchi A, Tada H, Shimada M, Kawamorita N, Kanamori M, Sugiyama I, Tsubata M, Ichikawa H, Yasuda J, Furukawa T, Aoki Y, Ishioka C. Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facility. J Hum Genet. 68(6):399-408, 2023.
7. Shirota H, Komine K, Takahashi M, Takahashi S, Miyauchi E, Niizuma H, Tada H, Shimada M, Niihori T, Aoki Y, Sugiyama I, Kawamura M, Yasuda J, Suzuki S, Iwaya T, Saito M, Saito T, Shibata H, Furukawa T, Ishioka C. Clinical decisions by the molecular tumor board on comprehensive genomic profiling tests in Japan: A retrospective observational study. Cancer Med 12(5):6170-6181,2023.
8. Irie M, Niihori T, Nakano T, Suzuki T, Katayama S, Moriya K, Niizuma H, Suzuki N, Saito-Nanjo Y, Onuma M, Rikiishi T, Sato A, Hangai M, Hiwatari M, Ikeda J, Tanoshima R, Shiba N, Yuza Y, Yamamoto N, Hashii Y, Kato M, Takita J, Maeda M, Aoki Y, Imaizumi M, Sasahara Y. Reduced-intensity conditioning is effective for allogeneic hematopoietic stem cell transplantation in infants with MECOM-associated syndrome. Int J Hematol. 117(4):598-606, 2023.
9. Aihara Y, Shirota M, Kikuchi A, Katata Y, Abe Y, Niihori T, Funayama R, Nakayama K, Aoki Y, Kure S. A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor. J Hum Genet 68(1):51-54, 2023

2022年

1. Tartaglia M, Aoki Y, Gelb BD. The molecular genetics of RASopathies: An update on novel disease genes and new disorders. Am J Med Genet C Semin Med Genet. 190(4):425-43, 2022.
2. Niihori T, Tanoshima R, Sasahara Y, Sato A, Irie M, Saito-Nanjo Y, Funayama R, Shirota M, Abe T, Okuyama Y, Ishii N, Nakayama K, Kure S, Imaizumi M, Aoki Y. Phenotypic heterogeneity in individuals with MECOM variants in 2 families. Blood Adv. 6: 5257-5261, 2022.
3. Nakano T, Sasahara Y, Kikuchi A, Moriya K, Niizuma H, Niihori T, Shirota M, Funayama R, Nakayama K, Aoki Y, Kure S. Novel POLE mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus. J Med Genet 59:1116-1122, 2022.
4. Ichikawa Y, Kuroda H, Ikegawa T, Kawai S, Ono S, Kim KS, Yanagi S, Kurosawa K, Aoki Y, Ueda H.　Cardiac features of Noonan syndrome in Japanese patients. Cardiol Young. 2022 Apr 27:1-6. doi: 10.1017/S104795112200124X. Online ahead of print.
5. Shiohama T, Fujii K, Kosaki R, Watanabe Y, Uchida T, Hagiwara S, Kinoshita K, Sugita K, Aoki Y, Shimojo N.　Severe neuroglycopenic symptoms due to nonketotic hypoglycemia in children with cardio-facio-cutaneous syndrome. Am J Med Genet A. 2022 Aug 9.
6. Leoni C, Viscogliosi G, Tartaglia M, Aoki Y, Zampino G. Multidisciplinary management of Costello syndrome: current perspectivesJ Multidiscip Healthc. 15:1277-1296, 2022.
7. Kontaridis MI, Roberts AE, Schill L, Schoyer L, Stronach B, Andelfinger G, Aoki Y, Axelrad ME, Bakker A, Bennett AM, Broniscer A, Castel P, Chang CA, Cyganek L, Das TK, den Hertog J, Galperin E, Garg S, Gelb BD, Gordon K, Green T, Gripp KW, Itkin M, Kiuru M, Korf BR, Livingstone JR, López-Juárez A, Magoulas PL, Mansour S, Milner T, Parker E, Pierpont EI, Plouffe K, Rauen KA, Shankar SP, Smith SB, Stevenson DA, Tartaglia M, Van R, Wagner ME, Ware SM, Zenker M.The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery. Am J Med Genet A. 188(6):1915-1927,2022
8. Minamoto A, Yamada T, Shimada S, Kinoshita I, Aoki Y, Oda K, Ueki A, Higashigawa S, Morikawa M, Sato Y, Hirasawa A, Ogawa M, Kondo T, Yoshioka M, Kanai M, Muto M, Kosugi S. Current status and issues related to secondary findings in the first public insurance covered tumor genomic profiling in Japan: multi-site questionnaire survey. J Hum Genet. 2022 Mar 23. doi: 10.1038/s10038-022-01028-x. Online ahead of print.
9. Ohneda K, Hiratsuka M, Kawame H, Nagami F, Suzuki Y, Suzuki K, Uruno A, Sakurai-Yageta M, Hamanaka Y, Taira M, Ogishima S, Kuriyama S, Hozawa A, Tomita H, Minegishi N, Sugawara J, Danjoh I, Nakamura T, Kobayashi T, Yamaguchi-Kabata Y, Tadaka S, Obara T, Hishimuma E, Mano N, Matsuura M, Sato Y, Nakasone M, Honkura Y, Suzuki J, Katori Y, Kakuta Y, Masamune A, Aoki Y, Nakayama M, Kure S, Kinoshita K, Fuse N, Yamamoto M. A pilot study for return of individual pharmacogenomic results to population-based cohort study participants. JMA J. 2022 Apr 15;5(2):177-189.doi: 10.31662/jmaj.2021-0156. Epub 2022 Mar 11.
10. Kanno M, Suzuki M, Tanikawa K, Numakura C, Matsuzawa SI, Niihori T, Aoki Y, Matsubara Y, Makino S, Tamiya G, Nakano S, Funayama R, Shirota M, Nakayama K, Mitsui T, Hayasaka K. Heterozygous calcyclin-binding protein/Siah1-interacting protein (CACYBP/SIP) gene pathogenic variant linked to a dominant family with paucity of interlobular bile duct. J Hum Genet. 2022 Jan 28. doi: 10.1038/s10038-022-01017-0. Online ahead of print.
11. Ito S, Hashimoto A, Yamaguchi K, Kawamura S, Myoen S, Ogawa M, Sato I, Minato T, Miyabe S, Nakazato A, Fujii K, Mochizuki M, Fujimori H, Tamai K, Niihori T, Aoki Y, Sugawara A, Sasano H, Shima H, Yasuda J. A novel 8.57-kb deletion of the upstream region of PRKAR1A in a family with Carney complex. Mol Genet Genomic Med. 2022 Feb 6;e1884. doi: 10.1002/mgg3.1884. Online ahead of print.
12. Ninomiya H, Ozeki M, Nozawa A, Yasue S, Endo S, Inuzuka M, Obara N, Mochizuki K, Kawaguchi M, Kaneko Y, Ohe N, Aoki Y, Matsuo M, Iwama T, Ohnishi H. A rare pediatric case of McCune-Albright syndrome with acute visual disturbance: Case report. Medicine (Baltimore) 11;101(6):e28815,2022
13. Minatogawa M, Unzaki A, Morisaki H, Syx D, Sonoda T, Janecke AR, Slavotinek A, Voermans NC, Lacassie Y, Mendoza-Londono R, Wierenga KJ, Jayakar P, Gahl WA, Tifft CJ, Figuera LE, Hilhorst-Hofstee Y, Maugeri A, Ishikawa K, Kobayashi T, Aoki Y, Ohura T, Kawame H, Kono M, Mochida K, Tokorodani C, Kikkawa K, Morisaki T, Kobayashi T, Nakane T, Kubo A, Ranells JD, Migita O, Sobey G, Kaur A, Ishikawa M, Yamaguchi T, Matsumoto N, Malfait F, Miyake N, Kosho T. Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS- CHST14). J Med Genet. 2021 Nov 23;jmedgenet-2020-107623.
14. Kawame H, Fukushima A, Fuse N, Nagami F, Suzuki Y, Sakurai-Yageta M, Yasuda J, Yamaguchi-Kabata Y, Kinoshita K, Ogishima S, Takai T, Kuriyama S, Hozawa A, Nakaya N, Nakamura T, Minegishi N, Sugawara J, Suzuki K, Tomita H, Uruno A, Kobayashi T, Aizawa Y, Tokutomi T, Yamamoto K, Ohneda K, Kure S, Aoki Y, Katagiri H, Ishigaki Y, Sawada S, Sasaki M, Yamamoto M. European The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project. J Hum Genet 67: 9–17,2022
15. Nagai K, Niihori T, Okamoto N, Kondo A, Suga K, Ohhira T, Hayabuchi Y, Homma Y, Nakagawa R, Ifuku T, Abe T, Mizuguchi T, Matsumoto N, Aoki Y. Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome. Hum Mutat.43(1):3-15, 2022
16. Nozawa A, Ozeki M, Yasue S, Endo S, Noguchi K, Kanayama T, Tomita H, Aoki Y, Ohnishi H.　Characterization of kaposiform lymphangiomatosis tissue-derived cells.Pediatr Blood Cancer. J Hum Genet 67:721-728, 2022

2021年

1. Suzuki H, Morita Y, Tatebe S, Niihori T, Saiki Y, Yasuda S, Shimokawa H Detection of intracellular histological abnormalities using cardiac magnetic resonance T1 mapping in patients with Danon disease: a case series. European Heart Journal - Case Reports, Volume 5, Issue 5, May 2021
2. Nozawa A,Ozeki M, Yasue S, Endo S, Noguchi K, Kanayama T, Tomita H, Aoki Y, Ohnishi H. Characterization of kaposiform lymphangiomatosis tissue-derived cells. Pediatr Blood Cancer. 2021 Apr 29:e29086.
3. Gualtieri A, Kyprianou N, Gregory LC, Vignola ML, Nicholson JG, Tan R, Inoue SI, Scagliotti V, Casado P, Blackburn J, Abollo-Jimenez F, Marinelli E, Besser REJ, Hogler W, Karen Temple I, Davies JH, Gagunashvili A, Robinson ICAF, Camper SA, Davis SW, Cutillas PR, Gevers EF, Aoki Y, Dattani MT, Gaston-Massuet C.Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans. Nat Commun. 2021 Apr 1;12(1):2028.doi: 10.1038/s41467-021-21712-4.
4. Ando Y, Sawada M, Kawakami T, Morita M, Aoki Y. A Patient with Noonan Syndrome with a KRAS Mutation Who Presented Severe Nerve Root Hypertrophy. Case Rep Neurol. 2021 Feb 16;13(1):108-118. doi: 10.1159/000512265.
5. Inoue-Shibui A, Niihori T, Kobayashi M, Suzuki N, Izumi R, Warita H, Hara K, Shirota M, Funayama R, Nakayama K, Nishino I, Aoki M, Aoki Y. A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy. J Hum Genet. 2021 Mar 20. doi: 10.1038/s10038-021-00916-y. Online ahead of print.
6. Mizukami M, Ishikawa A, Miyazaki S, Tsuzuki A, Saito S, Niihori T, Sakurai A. A de novo CHD3 variant in a child with intellectual disability, autism, joint laxity, and dysmorphisms. Brain Dev . 2021 Apr;43(4):563-565. doi: 10.1016/j.braindev.2020.12.004. Epub 2020 Dec 24.
7. Hakamata M, Hokari S, Ohshima Y, Kagami M, Saito S, Motoike IN, Abe T, Aoki N, Hayashi M, Watanabe S, Koya T, Kikuchi T.Chronic Hypercapnic Respiratory Failure in an Adult Patient with Silver-Russell Syndrome: A Case Report. Intern Med. 2021 Feb 1. doi:10.2169/internalmedicine.5479-20.

2020年

1. Katata Y, Inoue SI, Asao A, Kobayashi S, Terui H, Inoue-Shibui A, Abe T, Niihori T, Aiba S, Ishii N, Kure S, Aoki Y.　Costello syndrome model mice with a Hras G12S/+ mutation are susceptible to develop house dust mite-induced atopic dermatitis. Cell Death Dis. 11(8):617, 2020.
2. Nozawa A, Ozeki M, Niihori T, Suzui N, Miyazaki T, Aoki Y.　A somatic activating KRAS variant identified in an affected lesion of a patient with Gorham-Stout disease. J Hum Genet . 2020 Jun 26.
3. Nakano Y, Watanabe Y, Honda-Kitahara M, Yamagishi Y, Niizuma H, Niihori T, Sasahara Y, Sonoda Y, Narita Y, Nagane M, Kure S, Ichimura K.Utility of a bridged nucleic acid clamp for liquid biopsy: Detecting BRAF V600E in the cerebrospinal fluid of a patient with brain tumor. Pediatr Blood Cancer. ;67(10):e28651,2020
4. Izumi R, Takahashi T, Suzuki N, Niihori T, Ono H, Nakamura N, Katada S, Kato M, Warita H, Tateyama M, Aoki Y, Aoki M. The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype-phenotype relationship and a hotspot on the inner DysF domain. Hum Mutat 2020 May 12. doi: 10.1002/humu.24036. Online ahead of print.
5. Wada Y, Kikuchi A, Kaga A, Shimizu N, Ito J, Onuma R, Fujishima F, Totsune E, Sato R, Niihori T, Shirota M, Funayama R, Sato K, Nakazawa T, Nakayama K, Aoki Y, Aiba S, Nakagawa K, Kure S. Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice. PLoS Genet.16(2):e1008628.,2020
6. Yamamoto M, Takashio S, Nakashima N, Hanatani S, Arima Y, Sakamoto K, Yamamoto E, Kaikita K, Aoki Y, Tsujita K. Double-chambered right ventricle complicated by hypertrophic obstructive cardiomyopathy diagnosed as Noonan syndrome. ESC Heart Fail. Apr;7(2):721-726.2020
7. Niitsuma S, Kudo H, Kikuchi A, Hayashi T, Kumakura S, Kobayashi S, Okuyama Y, Kumagai N, Niihori T, Aoki Y, So T, Funayama R, Nakayama K, Shirota M, Kondo S, Kagami S, Tsukaguchi H, Iijima K, Kure S, Ishii N. Biallelic variants/mutations of IL1RAP in patients with steroid-sensitive nephrotic syndrome. Int Immunol. 32(4):283-292,2020
8. Masamune A, Kotani H, Sörgel FL, Chen JM, Hamada S, Sakaguchi R, Masson E, Nakano E, Kakuta Y, Niihori T, Funayama R, Shirota M, Hirano T, Kawamoto T, Hosokoshi A, Kume K, Unger L, Ewers M, Laumen H, Bugert P, Mori MX, Tsvilovskyy V, Weißgerber P, Kriebs U, Fecher-Trost C, Freichel M, Diakopoulos KN, Berninger A, Lesina M, Ishii K, Itoi T, Ikeura T, Okazaki K, Kaune T, Rosendahl J, Nagasaki M, Uezono Y, Algül H, Nakayama K, Matsubara Y, Aoki Y, Férec C, Mori Y, Witt H, Shimosegawa T. Variants That Affect Function of Calcium Channel TRPV6 Are Associated With Early-Onset Chronic Pancreatitis. Gastroenterology. 2020 Jan 10. pii: S0016-5085(20)30017-2.
9. Abe T, Umeki I, Kanno SI, Inoue SI, Niihori T, Aoki Y. LZTR1 facilitates polyubiquitination and degradation of RAS-GTPases. Cell Death Differ. 27(3):1023-1035,2020

2019年

1. Niihori T, Nagai K, Fujita A, Ohashi H, Okamoto N, Okada S, Harada A, Kihara H, Arbogast T, Funayama R, Shirota M, Nakayama K, Abe T, Inoue SI, Tsai IC, Matsumoto N, Davis EE, Katsanis N, Aoki Y. Am J Hum Genet. 104(6):1233-1240, 2019.
2. Ozeki M, Aoki Y, Nozawa A, Yasue S, Endo S, Hori Y, Matsuoka K, Niihori T, Funayama R, Shirota M, Nakayama K, Fukao T. Orphanet J Rare Dis. 14(1):215, 2019.
3. Mimura H, Akita S, Fujino A, Jinnin M, Ozaki M, Osuga K, Nakaoka H, Morii E, Kuramochi A, Aoki Y, Arai Y, Aramaki N, Inoue M, Iwashina Y, Iwanaka T, Ueno S, Umezawa A, Ozeki M, Ochi J, Kinoshita Y, Kurita M, Seike S, Takakura N, Takahashi M, Tachibana T, Chuman K, Nagata S, Narushima M, Niimi Y, Nosaka S, Nozaki T, Hashimoto K, Hayashi A, Hirakawa S, Fujikawa A, Hori Y, Matsuoka K, Mori H, Yamamoto Y, Yuzuriha S, Rikihisa N, Watanabe S, Watanabe S, Kuroda T, Sugawara S, Ishikawa K, Sasaki S.　Pediatr Int. 62(3):257-304, 2019.
4. Shoji Y, Ida S, Niihori T, Aoki Y, Okamoto N, Etani Y, Kawai M. Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome. Endocr J. 2019 Jul 10. doi: 10.1507/endocrj.EJ18-0564.
5. Iwasawa S, Yanagi K, Kikuchi A, Kobayashi Y, Haginoya K, Matsumoto H, Kurosawa K, Ochiai M, Sakai Y, Fujita A, Miyake N, Niihori T, Shirota M, Funayama R, Nonoyama S, Ohga S, Kawame H, Nakayama K, Aoki Y, Matsumoto N, Kaname T, Matsubara Y, Shoji W, Kure S.Recurrent de novo MAPK8IP3 variants cause neurological phenotypes. Ann Neurol. 85(6):927-933, 2019.
6. Takahara S, Inoue SI, Miyagawa-Tomita S, Matsuura K, Nakashima Y, Niihori T, Matsubara Y, Saiki Y, Aoki Y. New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis. EBioMedicine. Apr;42:43-53, 2019.
7. Suzuki-Muromoto S, Miyabayashi T, Nagai K, Yamamura-Suzuki S, Anzai M, Takezawa Y, Sato R, Okubo Y, Endo W, Inui T, Togashi N, Kikuchi A, Niihori T, Aoki Y, Kure S, Haginoya K. Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome. J Hum Genet. 64(5):499-504, 2019.
8. Wada Y, Kikuchi A, Arai-Ichinoi N, Sakamoto O, Takezawa Y, Iwasawa S, Niihori T, Nyuzuki H, Nakajima Y, Ogawa E, Ishige M, Hirai H, Sasai H, Fujiki R, Shirota M, Funayama R, Yamamoto M, Ito T, Ohara O, Nakayama K, Aoki Y, Koshiba S, Fukao T, Kure S. Biallelic GALM pathogenic variants cause a novel type of galactosemia.Genet Med. Jun;21(6):1286-1294, 2019
9. Umeki I, Niihori T, Abe T, Kanno SI, Okamoto N, Mizuno S, Kurosawa K, Nagasaki K, Yoshida M, Ohashi H, Inoue SI, Matsubara Y, Fujiwara I, Kure S, Aoki Y. Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. Hum Genet. 138(1):21-35, 2019.

2018年

1. Inoue SI, Morozumi N, Yoshikiyo K, Maeda H, Aoki Y. C-type natriuretic peptide improves growth retardation in a mouse model of cardio-facio-cutaneous syndrome. Hum Mol Genet. 2018 Sep 18. doi: 10.1093/hmg/ddy333. [Epub ahead of print]
2. Oba D, Inoue SI, Miyagawa-Tomita S, Nakashima Y, Niihori T, Yamaguchi S, Matsubara Y, Aoki Y. Mice with an Oncogenic HRAS Mutation are Resistant to High-Fat Diet-Induced Obesity and Exhibit Impaired Hepatic Energy Homeostasis. EBioMedicine. Jan;27:138-150, 2018
3. Takezawa Y, Fujie H, Kikuchi A, Niihori T, Funayama R, Shirota M, Nakayama K, Aoki Y, Sasaki M, Kure S. Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome. Brain Dev. 40(10):934-938, 2018
4. Tamura A, Uemura S, Matsubara K, Kozuki E, Tanaka T, Nino N, Yokoi T, Saito A, Ishida T, Hasegawa D, Umeki I, Niihori T, Nakazawa Y, Koike K, Aoki Y, Kosaka Y. Co-occurrence of hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia in a neonate with Noonan syndrome, leading to premature death. Clin Case Rep. 6(7):1202-1207,2018
5. Ashraf S, Kudo H, Rao J, Kikuchi A, Widmeier E, Lawson JA, Tan W, Hermle T, Warejko JK, Shril S, Airik M, Jobst-Schwan T, Lovric S, Braun DA, Gee HY, Schapiro D, Majmundar AJ, Sadowski CE, Pabst WL, Daga A, van der Ven AT, Schmidt JM, Low BC, Gupta AB, Tripathi BK, Wong J, Campbell K, Metcalfe K, Schanze D, Niihori T, Kaito H, Nozu K, Tsukaguchi H, Tanaka R, Hamahira K, Kobayashi Y, Takizawa T, Funayama R, Nakayama K, Aoki Y, Kumagai N, Iijima K, Fehrenbach H, Kari JA, El Desoky S, Jalalah S, Bogdanovic R, Stajić N, Zappel H, Rakhmetova A, Wassmer SR, Jungraithmayr T, Strehlau J, Kumar AS, Bagga A, Soliman NA, Mane SM, Kaufman L, Lowy DR, Jairajpuri MA, Lifton RP, Pei Y, Zenker M, Kure S, Hildebrandt F. Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment. Nat Commun. 9(1):1960, 2018 　 　
6. Takezawa Y, Kikuchi A, Haginoya K, Niihori T, Numata-Uematsu Y, Inui T, Yamamura-Suzuki S, Miyabayashi T, Anzai M, Suzuki-Muromoto S, Okubo Y, Endo W, Togashi N, Kobayashi Y, Onuma A, Funayama R, Shirota M, Nakayama K, Aoki Y, Kure S.Genomic analysis identifies masqueraders of full-term cerebral palsy. Ann Clin Transl Neurol. 26;5(5):538-551, 2018 　
7. Nakamura H, Uematsu M, Numata-Uematsu Y, Abe Y, Endo W, Kikuchi A, Takezawa Y, Funayama R, Shirota M, Nakayama K, Niihori T, Aoki Y, Haginoya K, Kure S. Brain Dev. 2018 Jan 26. pii: S0387-7604(18)30007-X. doi: 10.1016/j.braindev.2017.12.015

2017年

1. Fukushima H, Shimizu K, Watahiki A, Hoshikawa S, Kosho T, Oba D, Sakano S, Arakaki M, Yamada A, Nagashima K, Okabe K, Fukumoto S, Jimi E, Bigas A, Nakayama KI, Nakayama K, Aoki Y, Wei W, Inuzuka H. NOTCH2 Hajdu-Cheney Mutations Escape SCFFBW7-Dependent Proteolysis to Promote Osteoporosis. Mol Cell. 68(4):645-658.e5. , 2017
2. Inoue SI, Takahara S, Yoshikawa T, Niihori T, Yanai K, Matsubara Y, Aoki Y. Activated Braf induces esophageal dilation and gastric epithelial hyperplasia in mice. Hum Mol Genet. 26(23):4715-4727, 2017
3. Hino-Fukuyo N, Kikuchi A, Yokoyama H, Iinuma K, Hirose M, Haginoya K, Niihori T, Nakayama K, Aoki Y, Kure S. Long-term outcome of a 26-year-old woman with West syndrome and an nuclear receptor subfamily 2 group F member 1 gene (NR2F1) mutation. Seizure. Aug;50:144-146, 2017
4. Ueda K, Yaoita M, Niihori T, Aoki Y, Okamoto N. Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. Am J Med Genet A. Sep;173(9):2346-2352,2017
5. Tanigawa J, Mimatsu H, Mizuno S, Okamoto N, Fukushi D, Tominaga K, Kidokoro H, Muramatsu Y, Nishi E, Nakamura S, Motooka D, Nomura N, Hayasaka K, Niihori T, Aoki Y, Nabatame S, Hayakawa M, Natsume J, Ozono K, Kinoshita T, Wakamatsu N, Murakami Y. Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties. Hum Mutat. Jul;38(7):805-815, 2017
6. Tode N, Kikuchi T, Sakakibara T, Hirano T, Inoue A, Ohkouchi S, Tamada T, Okazaki T, Koarai A, Sugiura H, Niihori T, Aoki Y, Nakayama K, Matsumoto K, Matsubara Y, Yamamoto M, Watanabe A, Nukiwa T, Ichinose M.Exome sequencing deciphers a germline MET mutation in familial epidermal growth factor receptor-mutant lung cancer. Cancer Sci. Jun;108(6):1263-1270, 2017
7. Okamoto N, Nakao H, Niihori T, Aoki Y. A patient with a novel purine-rich element binding protein A (PURA) mutation. Congenit Anom (Kyoto). 2017 Feb 6. doi: 10.1111/cga.12214. [Epub ahead of print]
8. Nishiyama A, Niihori T, Warita H, Izumi R, Akiyama T, Kato M, Suzuki N, Aoki Y, Aoki M. Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis.Neurobiol Aging. pii: S0197-4580(17)30005-2, 2017
9. Hino-Fukuyo N, Kikuchi A, Iwasaki M, Sato Y, Kubota Y, Kobayashi T, Nakayama T, Haginoya K, Arai-Ichinoi N, Niihori T, Sato R, Suzuki T, Kudo H, Funayama R, Nakayama K, Aoki Y, Kure S. Dramatic response after functional hemispherectomy in a patient with epileptic encephalopathy carrying a de novo COL4A1 mutation. Brain Dev.Apr;39(4):337-340., 2017

2016年

1. Nishiyama A, Warita H, Takahashi T, Suzuki N, Nishiyama S, Tano O, Akiyama T, Watanabe Y, Takahashi K, Kuroda H, Kato M, Tateyama M, Niihori T, Aoki Y, Aoki M. Prominent sensory involvement in a case of familial amyotrophic lateral sclerosis carrying the L8V SOD1 mutation. Clin Neurol Neurosurg. 150:194-196, 2016
2. Masamune A, Nakano E, Niihori T, Hamada S, Nagasaki M, Aoki Y, Shimosegawa T Variants in the UBR1 gene are not associated with chronic pancreatitis in Japan. Pancreatology. 16(5):814-8, 2016
3. Watanabe Y, Shido K, Niihori T, Niizuma H, Katata Y, Iizuka C, Oba D, Moriya K, Saito-Nanjo Y, Onuma M, Rikiishi T, Sasahara Y, Watanabe M, Aiba S, Saito R, Sonoda Y, Tominaga T, *Aoki Y, Kure S. Somatic BRAF c.1799T>A p.V600E Mosaicism syndrome characterized by a linear syringocystadenoma papilliferum, anaplastic astrocytoma, and ocular abnormalities. Am J Med Genet A. 170(1):189-94, 2016
4. Yaoita M, Niihori T, Mizuno S, Okamoto N, Hayashi S, Watanabe A, Yokozawa M, Suzumura H, Nakahara A, Nakano Y, Hokosaki T, Ohmori A, Sawada H, Migita O, Mima A, Lapunzina P, Santos-Simarro F, García-Miñaúr S, Ogata T, Kawame H, Kurosawa K, Ohashi H, Inoue S, Matsubara Y, Kure S, *Aoki Y. Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. Hum Genet. 135(2):209-22, 2016
5. Aoki Y, Niihori T, Inoue SI, Matsubara Y. Recent advances in RASopathies. J Hum Genet. 2015 Oct 8. doi: 10.1038/jhg.2015.114. [Epub ahead of print] Review.
6. Higasa K, Miyake N, Yoshimura J, Okamura K, Niihori T, Saitsu H, Doi K, Shimizu M, Nakabayashi K, Aoki Y, Tsurusaki Y, Morishita S, Kawaguchi T, Migita O, Nakayama K, Nakashima M, Mitsui J, Narahara M, Hayashi K, Funayama R, Yamaguchi D, Ishiura H, Ko WY, Hata K, Nagashima T, Yamada R, Matsubara Y, Umezawa A, Tsuji S, Matsumoto N, Matsuda F.　Human genetic variation database, a reference database of genetic variations in the Japanese population.　J Hum Genet. 2016 Feb 25. doi: 10.1038/jhg.2016.12. [Epub ahead of print]
7. Uemura R, Tachibana D, Kurihara Y, Pooh RK, Aoki Y, Koyama M.　Prenatal findings of hypertrophic cardiomyopathy in a severe case of Costello syndrome. Ultrasound Obstet Gynecol. 2016 Feb 25. doi: 10.1002/uog.15888.

2015年

1. Niihori T, Ouchi-Uchiyama M, Sasahara Y, Kaneko T, Hashii Y, Irie M, Sato A, Saito-Nanjo Y, Funayama R, Nagashima T, Inoue S, Nakayama K, Ozono K, Kure S, Matsubara Y, Imaizumi M, Aoki Y. Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia. Am J Hum Genet. 97(6):848-54, 2015
2. Izumi R, Niihori T, Takahashi T, Suzuki N, Tateyama　M, Watanabe C, Sugie K, Nakanishi H, Sobue G, Kato M, Warita H, Aoki Y, Aoki　M.　Genetic profile for suspected dysferlinopathy identified by targeted nextgeneration sequencing. Neurol Genet. Dec 10;1(4):e39, 2015
3. Moriya M, Inoue SI, Miyagawa-Tomita S, Nakashima Y, Oba D, Niihori T, Hashi M, Ohnishi H, Kure S, Matsubara Y, *Aoki Y.Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype. Hum Mol Genet. 24(25):7349-60, 2015
4. Izumi R, Warita H, Niihori T,　Takahashi T, Tateyama M, Suzuki N, Nishiyama A, Shirota M, Funayama　R,Nakayama K, Mitsuhashi S, Nishino I, Aoki Y, Aoki M. Isolated inclusion body myopathy caused by a multisystem　proteinopathy-linked hnRNPA1 mutation. Neurol Genet. Sep 24;1(3):e23, 2015
5. Nakano E, Geisz A, Masamune A, Niihori T, Hamada S, Kume K, Kakuta Y, Aoki Y, Matsubara Y, Ebert K, Ludwig M, Braun M, Groneberg DA, Shimosegawa T, Sahin-Tóth M, Witt H. Variants in pancreatic carboxypeptidase genes CPA2 and CPB1 are not associated with chronic pancreatitis. Am J Physiol Gastrointest Liver Physiol. 15;309(8):G688-94, 2015. 　
6. Takasawa K, Takishima S, Morioka C, Nishioka M, Ohashi H, Aoki Y, Shimohira　M, Kashimada K, Morio T. Improved growth velocity of a patient with Noonan-like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiencyby low-dose growth hormone therapy. Am J Med Genet A. 167(10):2425-2429, 2015.
7. Kuroda Y, Ohashi I, Enomoto Y, Naruto T, Baba N, Tanaka Y, Aida N, Okamoto N, Niihori T, Aoki Y, Kurosawa K. A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome. Am J Med Genet A. 2015 Apr 25. doi: 10.1002/ajmg.a.37135. [Epub ahead of print]
8. Hino-Fukuyo N, Kikuchi A, Arai-Ichinoi N, Niihori T, Sato R, Suzuki T, Kudo H, Sato Y, Nakayama T, Kakisaka Y, Kubota Y, Kobayashi T, Funayama R, Nakayama K, Uematsu M, Aoki Y, Haginoya K, Kure S .Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. Hum Genet. 2015 Apr 16. [Epub ahead of print]
9. Fujiwara I, Murakami Y, Niihori T, Kanno J, Hakoda A, Sakamoto O, Okamoto N, Funayama R, Nagashima T, Nakayama K, Kinoshita T, Kure S, Matsubara Y, Aoki Y. Mutations in PIGL in a patient with Mabry syndrome. Am J Med Genet A. 2015 Apr;167(4):777-85.
10. Nakano E, Masamune A, Niihori T, Kume K, Hamada S, Aoki Y, Matsubara Y, Shimosegawa T. Targeted Next-Generation Sequencing Effectively Analyzed the Cystic Fibrosis Transmembrane Conductance Regulator Gene in Pancreatitis. Dig Dis Sci. 2014 Dec 10. [Epub ahead of print]
11. Nishi E, Mizuno S, Nanjo Y, Niihori T, Fukushima Y, Matsubara Y, Aoki Y, Kosho T. A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines. Am J Med Genet A. 2015 Feb;167A(2):407-11.

2014年

1. Inoue SI, Moriya M, Watanabe Y, Miyagawa-Tomita S, Niihori T, Oba D, Ono M, Kure S, Ogura T, Matsubara Y,Aoki Y. New BRAF knock-in mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome. Hum Mol Genet.　Hum Mol Genet. 23:4315-27, 2014
2. Izumi R, Niihori T, Suzuki N, Sasahara Y, Rikiishi T, Nishiyama A, Nishiyama S, Endo K, Kato M, Warita H, Konno H, Takahashi T, Tateyama M, Nagashima T, Funayama R, Nakayama K, Kure S, Matsubara Y, Aoki Y, Aoki M. GNE myopathy associated with congenital thrombocytopenia: a report of two siblings. Neuromuscul Disord. 2014 Aug 8. pii: S0960-8966(14)00616-6. doi: 10.1016/j.nmd.2014.07.008. [Epub ahead of print]
3. Ogata T, Niihori T, Tanaka N, Kawai M, Nagashima T, Funayama R, Nakayama K, Nakashima S, Kato F, Fukami M, Aoki Y, Matsubara Y. TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-Like Craniofacial Features and Hypocalcemia. PLoS One. 9(3):e91598, 2014
4. Flex E, Jaiswal M, Pantaleoni F, Martinelli S, Strullu M, Fansa EK, Caye A, De Luca A, Lepri F, Dvorsky R, Pannone L, Paolacci S, Zhang SC, Fodale V, Bocchinfuso G, Rossi C, Burkitt-Wright EM, Farrotti A, Stellacci E, Cecchetti S, Ferese R, Bottero L, Castro S, Fenneteau O, Brethon B, Sanchez M, Roberts AE, Yntema HG, van der Burgt I, Cianci P, Bondeson ML, Digilio MC, Zampino G, Kerr B, Aoki Y, Loh ML, Palleschi A, Di Schiavi E, Care A, Selicorni A, Dallapiccola B, Cirstea IC, Stella L, Zenker M, Gelb BD, Cave H, Ahmadian MR, Tartaglia M. Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis. Hum Mol Genet. 2014 Aug 15;23(16):4315-27.
5. Dragneva S, Szyszka-Niagolov M, Ivanova A, Mateva L, Izumi R, Aoki Y, Matsubara Y. Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP). JIMD Rep. 16:57-64, 2014
6. Fujimoto N, Nakajima H, Sugiura E, Dohi K, Kanemitsu S, Yamada N, Aoki Y, Nakatani K, Shimpo H, Nobori T, Ito M. Bilateral giant coronary aneurysms in a 40-year-old male with Noonan syndrome caused by a KRAS germline mutation. Int J Cardiol. 173(3):e63-6, 2014
7. Narumi Y, Nishina S, Tokimitsu M, Aoki Y, Kosaki R, Wakui K, Azuma N, Murata T, Takada F, Fukushima Y, Kosho T. Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: A clinical report and review of literature. Am J Med Genet A.164A:1272-1276, 2014
8. Sakamoto K, Imamura T, Asai D, Goto-Kawashima S, Yoshida H, Fujiki A, Furutani A, Ishida H, Aoki Y, Hosoi H.　Acute Lymphoblastic Leukemia Developing in a Patient With Noonan Syndrome Harboring a PTPN11 Germline Mutation. J Pediatr Hematol Oncol. Mar;36(2):e136-9, 2014
9. Ninomiya M, Kondo Y, Niihori T, Nagashima T, Kogure T, Kakazu E, Kimura O, Aoki Y, Matsubara Y, Shimosegawa T. The sequential analysis of amino acid substitutions with hepatitis B virus in association with nucleos(t)ide analogue treatment detecting by deep sequencing. Hepatol Res. 44(6):678-84, 2014

2013年

1. Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue SI, Watanabe Y, Ogura T, Matsubara Y. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. Am J Hum Genet. 93:173-180, 2013
2. Izumi R, Niihori T, Aoki Y, Suzuki N, Kato M, Warita H, Takahashi T, Tateyama M, Nagashima T, Funayama R, Abe K, Nakayama K, Aoki M, Matsubara Y. Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure. J Hum Genet. 58:259-266, 2013
3. Sekiguchi K, Maeda T, Suenobu S, Kunisaki N, Shimizu M, Kiyota K, Handa Y, Akiyoshi K, Korematsu S, Aoki Y, Matsubara Y, Izumi T. A transient myelodysplastic/myeloproliferative neoplasm in a patient with cardio-facio-cutaneous syndrome and a germline BRAF mutation. Am J Med Genet A. 161(10):2600-3, 2013
4. Wakusawa K, Kobayashi S, Abe Y, Tanaka S, Endo W, Inui T, Iwaki M, Watanabe S, Togashi N, Nara T, Niihori T, Aoki Y, Haginoya K. A girl with Cardio-facio-cutaneous syndrome complicated with status epilepticus and acute encephalopathy. Brain Dev. 2013 Jan 19. doi:pii: S0387-7604(12)00323-3. 10.1016/j.braindev.2012.12.007. [Epub ahead of print]

2012年

1. Abe Y, Aoki Y, Kuriyama S, Kawame H, Okamoto N, Kurosawa K, Ohashi H, Mizuno S, Ogata T, Kure S, Niihori T, Matsubara Y, Costello and CFC syndrome study group in Japan. Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: Findings from a nationwide epidemiological survey. Am J Med Genet Part A. 158A:1083–1094, 2012
2. Saito Y, Aoki Y, Muramatsu H, Makishima H, Maciejewski JP, Imaizumi M, Rikiishi T, Sasahara Y, Kure S, Niihori T, Tsuchiya S, Kojima S, Matsubara Y. Casitas B-cell lymphoma mutation in childhood T-cell acute lymphoblastic leukemia.Leuk Res. 2012 Aug;36(8):1009-15. Epub 2012 May 14.
3. Moriya K, Suzuki M, Watanabe Y, Takahashi T, Aoki Y, Uchiyama T, Kumaki S, Sasahara Y, Minegishi M, Kure S, Tsuchiya S, Sugamura K, Ishii N. Development of a Multi-Step Leukemogenesis Model of MLL-Rearranged Leukemia Using Humanized Mice.PLoS One. 2012;7(6):e37892. Epub 2012 Jun 20.
4. Asano M, Fujimura T, Wakusawa C, Aoki Y, Matsubara Y, Aiba S.A Case of Almost Unilateral Focal Dermal Hypoplasia Resulting From a Novel Mutation in the Gene. Acta Derm Venereol. 2012 Jun 27. doi: 10.2340/00015555-1399. [Epub ahead of print]
5. Narisawa A, Komatsuzaki S, Kikuchi A, Niihori T, Aoki Y, Fujiwara K, Tanemura M, Hata A, Suzuki Y, Relton CL, Grinham J, Leung KY, Partridge D, Robinson A, Stone V, Gustavsson P, Stanier P, Copp AJ, Greene ND, Tominaga T, Matsubara Y, Kure S. Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans. Hum Mol Genet. Apr 1;21(7):1496-503. 2012
6. Adachi M, Abe Y, Aoki Y, Matsubara Y. Epilepsy in RAS/MAPK syndrome: Two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review. Seizure. Jan;21(1):55-60, 2012
7. Miyatake S, Miyake N, Touho H, Nishimura-Tadaki A, Kondo Y, Okada I, Tsurusaki Y, Doi H, Sakai H, Saitsu H, Shimojima K, Yamamoto T, Higurashi M, Kawahara N, Kawauchi H, Nagasaka K, Okamoto N, Mori T, Koyano S, Kuroiwa Y, Taguri M, Morita S, Matsubara Y, Kure S, Matsumoto N. Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease. Neurology. 78(11):803-10, 2012.
8. Komatsuzaki S, Sakamoto O, Fuse N, Uematsu M, Matsubara Y, Ohura T. Clinical Reasoning: A young man with progressive subcortical lesions and optic nerve atrophy. Neurology. 79(7):e63-8, 2012.
9. Kikuchi A, Arai-Ichinoi N, Sakamoto O, Matsubara Y, Saheki T, Kobayashi K, Ohura T, Kure S. Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13. Mol Genet Metab. 105(4):553-8, 2012.
10. Metoki H, Ohkubo T, Obara T, Akutsu K, Yamamoto M, Ishikuro M, Sakurai K, Iwama N, Katagiri M, Sugawara J, Hirose T, Sato M, Kikuya M, Yagihashi K, Matsubara Y, Yaegashi N, Mori S, Suzuki M, Imai Y; BOSHI Study Group. Daily serial hemodynamic data during pregnancy and seasonal variation: the BOSHI study. Clin Exp Hypertens. 34(4):290-6, 2012.
11. Patrinos GP, Smith TD, Howard H, Al-Mulla F, Chouchane L, Hadjisavvas A, Hamed SA, Li XT, Marafie M, Ramesar RS, Ramos FJ, de Ravel T, El-Ruby MO, Shrestha TR, Sobrido MJ, Tadmouri G, Witsch-Baumgartner M, Zilfalil BA, Auerbach AD, Carpenter K, Cutting GR, Dung VC, Grody W, Hasler J, Jorde L, Kaput J, Macek M, Matsubara Y, Padilla C, Robinson H, Rojas-Martinez A, Taylor GR, Vihinen M, Weber T, Burn J, Qi M, Cotton RG, Rimoin D; (International Confederation of Countries Advisory Council). Human variome project country nodes: Documenting genetic information within a country. Hum Mutat. 33(11):1513-9, 2012.

2011年

1. Auerbach AD, Burn J, Cassiman JJ, Claustres M, Cotton RG, Cutting G, den Dunnen JT, El-Ruby M, Vargas AF, Greenblatt MS, Macrae F, Matsubara Y, Rimoin DL, Vihinen M, Van Broeckhoven C.Mutation (variation) databases and registries: a rationale for coordination of efforts. Nat Rev Genet. Oct 25;12(12):881,2011
2. Niihori T, Aoki Y, Okamoto N, Kurosawa K, Ohashi H, Mizuno S, Kawame H, Inazawa J, Ohura T, Arai H, Nabatame S, Kikuchi K, Kuroki Y, Miura M, Tanaka T, Ohtake A, Omori I, Ihara K, Mabe H, Watanabe K, Niijima S, Okano E, Numabe H, Matsubara Y.HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome. J Hum Genet. 56(10):707-15, 2011
3. Wakabayashi Y, Yamazaki K, Narumi Y, Fuseya S, Horigome M, Wakui K, Fukushima Y, Matsubara Y, Aoki Y, Kosho T.Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His. Am J Med Genet A. Oct;155(10):2529-33, 2011
4. Allanson JE, Annerén G, Aoki Y, Armour CM, Bondeson ML, Cave H, Gripp KW, Kerr B, Nystrom AM, Sol-Church K, Verloes A, Zenker M. Cardio-facio-cutaneous syndrome: Does genotype predict phenotype?　Am J Med Genet C Semin Med Genet. 2011 May 15;157(2):129-35. doi: 10.1002/ajmg.c.30295. Epub 2011 Apr 14.
5. Lin AE, Alexander ME, Colan SD, Kerr B, Rauen KA, Noonan J, Baffa J, Hopkins E, Sol-Church K, Limongelli G, Digilio MC, Marino B, Innes AM, Aoki Y, Silberbach M, Delrue MA, White SM, Hamilton RM, O'Connor W, Grossfeld PD, Smoot LB, Padera RF, Gripp KW. Clinical, Pathological and Molecular Analyses of Cardiovascular Abnormalities in CostelloSyndrome: A Ras/MAPK Pathway Syndrome. Am J Med Genet A. Mar;155A(3):486-507, 2011
6. Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, Kanno J, Niihori T, Ono M, Ishii N, Owada Y, Fujimura M, Mashimo Y, Suzuki Y, Hata A, Tsuchiya S, Tominaga T, Matsubara Y, Kure S. A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. J Hum Genet, 56(1):34-40,2011
7. Aizaki K, Sugai K, Saito Y, Nakagawa E, Sasaki, M, Aoki Y, Matsubara Y. Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination. Brain Dev. 33(2):166-9, 2011
8. Ohtake　A, Aoki Y, Saito Y, Niihori T, Shibuya A, Kure S, Matsubara Y. Non-Hodgkin lymphoma in a patient with cardio-facio-cutaneous syndrome. J Pediatr Hematol Oncol, Online
9. Ohashi H, Suzumori K, Chisaka Y, Sonta S, Kobayashi T, Aoki Y, Matsubara Y, Sone M , Shaffer LG. Implications of prenatal diagnosis of the fetus with both interstitial deletion and a small marker ring originating from Chromosome 5. Am J Med Genet Jan;155(1):192-6, 2011
10. Watanabe Y, Yano S, Niihori T, Aoki Y, Matsubara Y, Yoshino M, Matsuishi T. A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder. Brain Dev. Online.

2010年

1. Kobayashi T, Aoki Y, Niihori T, Cavé H, Verloes A, Okamoto N, Kawame H, Fujiwara I, Takada F, Ohata T, Sakazume S, Ando T, Nakagawa N, Lapunzina P, Meneses AG, Gillessen-Kaesbach G, Wieczorek D, Kurosawa K, Mizuno S, Ohashi H, David A, Philip N, Guliyeva A, Narumi Y, Kure S, Tsuchiya S, Matsubara Y. Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. Human Mut, 31(3):284-294. 2010
2. Komatsuzaki S, Aoki Y, Niihori T, Okamoto N, Hennekam RCM, Hopman S, Ohashi H, Mizuno S, Watanabe Y, Kamasaki H, Kondo I, Moriyama N, Kurosawa K, Kawame H, Imaizumi M, Rikiishi T, Tsuchiya S, Kure S, Matsubara Y. SHOC2 mutation analysis in Noonan-like syndrome and hematologic malignancies. J Hum Genet 55(12):801-9 2010
3. Rauen KA, Schoyer L, McCormick F, Lin AE, Allanson JE, Stevenson DA, Gripp KW, et al. Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. Am J Med Genet A 152A: 4-24, 2010
4. Shimaoka Y, Kosho T, Wataya-Kaneda M, Funakoshi M, Suzuki T, Hayashi S, Mitsuhashi Y, Isei T, Aoki Y, Yamazaki K, Ono M, Makino K, Tanaka T, Kunii E, Hatamochi A. Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome. Br J Dermatol. Oct;163(4):704-10, 2010

2008年

1. Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y. The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. Hum Mutat. 29:992-1006, 2008 (Review)
2. Narumi Y, Aoki Y, Niihori T, Sakurai M, Cave H, Verloes A, Nishio K, Ohashi H, Kurosawa K, Okamoto N, Kawame H, Mizuno S, Kondoh T, Addor MC, Coeslier-Dieux A, Vincent-Delorme C, Tabayashi K, Aoki M, Kobayashi T, Guliyeva A, Kure S, Matsubara Y. Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome. J Hum Genet. 53:834-841, 2008
3. Rauen KA, Hefner E, Carrillo K, Taylor J, Messier L, Aoki Y, Gripp KW, Matsubara Y, Proud VK, Hammond P, Allanson JE, Delrue MA, Axelrad ME, Lin AE, Doyle DA, Kerr B, Carey JC, McCormick F, Silva AJ, Kieran MW, Hinek A, Nguyen TT, Schoyer L. Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: proceedings from the 1st International Costello Syndrome Research Symposium 2007. Am J Med Genet A. 146:1205-1217, 2008
4. Kojima-Ishii K, Kure S, Ichinohe A, Shinka T, Narisawa A, Komatsuzaki S, Kanno J, Kamada F, Aoki Y, Yokoyama H, Oda M, Sugawara T, Mizoi K, Nakahara D, Matsubara Y. Model mice for mild-form glycine encephalopathy: Behavioural and biochemical characterizations and efficacy of antagonists for the glycine binding site of N-methyl D-aspartate receptor. Pediatr Res 64:228-33, 2008
5. Inoue H, Kayano S, Aoki Y, Kure S, Yamada A, Hata A, Matsubara Y, Suzuki Y. Association of the GABRB3 Gene With Nonsyndromic Oral Clefts. Cleft Palate Craniofac J. 45:261-266, 2008

2007年

1. Narumi Y, Aoki Y, Niihori T, Neri G, Cave H, Verloes A, Nava C, Kavamura MI, Okamoto N, Kurosawa K, Hennekam RC, Wilson LC, Gillessen-Kaesbach G, Wieczorek D, Lapunzina P, Ohashi H, Makita Y, Kondo I, Tsuchiya S, Ito E, Sameshima K, Kato K, Kure S, Matsubara Y. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome. Am J Med Genet A. 143:799-807, 2007
2. Makita Y, Narumi Y, Yoshida M, Niihori T, Kure S, Fujieda K, Matsubara Y, Aoki Y. Leukemia in Cardio-facio-cutaneous (CFC) Syndrome: A Patient With a Germline Mutation in BRAF Proto-oncogene. J Pediatr Hematol Oncol. 29:287-290, 2007
3. Kanno J, Kure S, Narisawa A, Kamada F, Takayanagi M, Yamamoto K, Hoshino H, Goto T, Takahashi T, Haginoya K, Tsuchiya S, Baumeister FA, Hasegawa Y, Aoki Y, Yamaguchi S, Matsubara Y. Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis. Mol Genet Metab. 91:384-389, 2007
4. Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, Aoki Y, Matsubara Y, Arveiler B, Lacombe D, Pasmant E, Parfait B, Baumann C, Heron D, Sigaudy S, Toutain A, Rio M, Goldenberg A, Leheup B, Verloes A, Cave H. CFC and Noonan syndromes due to mutations in RAS/MAPK signaling pathway: genotype/phenotype relationships and overlap with Costello syndrome. J Med Genet 44:763-71, 2007
5. Kanno J, Hutchin T, Kamada F, Narisawa A, Aoki Y, Matsubara Y, Kure S. Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia. J Med Genet. 44:e69, 2007
6. Oda M, Kure S, Sugawara T, Yamaguchi S, Kojima K, Shinka T, Sato K, Narisawa A, Aoki Y, Matsubara Y, Omae T, Mizoi K, Kinouchi H. Direct correlation between ischemic injury and extracellular glycine concentration in mice with genetically altered activities of the glycine cleavage multienzyme system. Stroke. 38:2157-2164, 2007

2006年

1. Niihori T, Aoki Y, Narumi Y, Neri G, Cave H, Verloes A, Okamoto N, Hennekam RC, Gillessen-Kaesbach G, Wieczorek D, Kavamura MI, Kurosawa K, Ohashi H, Wilson L,Heron D, Bonneau D, Corona G, Kaname T, Naritomi K, Baumann C, Matsumoto N,Kato K, Kure S, Matsubara Y (2006) Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet 38:294-6
2. Kure S, Korman SH, Kanno J, Narisawa A, Kubota M, Takayanagi T, Takayanagi M, Saito T, Matsui A, Kamada F, Aoki Y, Ohura T, Matsubara Y (2006b) Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test. Ann Neurol 59:862-7
3. Kure S, Kato K,Dinopoulos A, Gail C, Degrauw TJ, Christodoulou J, Bzduch V, Kalmanchey R, Fekete G, Trojovsky A, Plecko B, Breningstall G, Tohyama J, Aoki Y, Matsubara Y(2006a) Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. Hum Mutat 27:343-352
4. Kamada F, KureS, Kudo T, Suzuki Y, Oshima T, Ichinohe A, Kojima K, Niihori T, Kanno J, NarumiY, Narisawa A, Kato K, Aoki Y, Ikeda K, Kobayashi T, Matsubara Y (2006) A novelKCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation. J Hum Genet 51:455-60
5. Sato K, Kanno J, Tominaga T,Matsubara Y, Kure S (2006) De novo and salvage pathways of DNA synthesis in primary cultured neurall stem cells. Brain Res 1071:24-33
6. Gripp KW, Lin AE, Stabley DL, Nicholson L, Scott CI, Jr., Doyle D, Aoki Y, Matsubara Y, Zackai EH, Lapunzina P, Gonzalez-Meneses A, Holbrook J, Agresta CA, Gonzalez IL, Sol-Church K (2006) HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. Am J Med Genet A 140:1-7
7. Hiratsuka M, Ebisawa A, Sakuyama K, Matsubara Y, Kure S, Soya Y, Konno Y, Sasaki T, Kishiba A, Mizugaki M (2006) Competitive allele-specific short oligonucleotide hybridization (CASSOH) with enzyme-linked immunosorbent assay (ELISA) for the detection of pharmacogenetic single nucleotide polymorphisms (SNPs). J Biochem ? Biophys Methods 67:87-94
8. del Toro M, Arranz JA, Macaya A, Riudor E, Raspall M, Moreno A, Vazquez E, Ortega A, Matsubara Y, Kure S, Roig M (2006) Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertension. Ann Neurol 60:148-52

2005年

1. Suzuki Y, Yang X, Aoki Y, Kure S, Matsubara Y (2005) Mutations in the holocarboxylasesynthetase gene HLCS. Hum Mutat 26:285-90
2. Salvi F, Aoki Y, Della Nave R, Vella A, Pastorelli F, Scaglione C, Matsubara Y, Mascalchi M (2005) Adult Alexander's disease without leukoencephalopathy.Ann Neurol 58:813-4
3. Otomo J, Kure S, Shiba T, Karibe A, Shinozaki T, Yagi T, Naganuma H, Tezuka F, Miura M, Ito M, Watanabe J, Matsubara Y, Shirato K (2005) Electrophysiological and histopathological characteristics of progressive atrioventricular block accompanied by familial dilated cardiomyopathy caused by a novel mutation of lamin A/C gene. J Cardiovasc Electrophysiol 16:137-45
4. Dinopoulos A, Kure S, Chuck G, Sato K, Gilbert DL, Matsubara Y, Degrauw T (2005a) Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults. Neurology 64:1255-7
5. Dinopoulos A, Matsubara Y, Kure S (2005b) Atypical variants of nonketotic hyperglycinemia. Mol Genet Metab 86:61-9
6. Boneh A, Korman SH, Sato K, Kanno J, Matsubara Y, Lerer I, Ben-Neriah Z, Kure S (2005) A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem. J Hum Genet 50:230-4
7. Niihori T, Aoki Y, Ohashi H, Kurosawa K, Kondoh T, Ishikiriyama S, Kawame H, Kamasaki H, Yamanaka T, Takada F, Nishio K, Sakurai M, Tamai H, Nagashima T, Suzuki Y, Kure S, Fujii K, Imaizumi M, Matsubara Y (2005) Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia. J Hum Genet 50:192-202
8. Aoki Y, Niihori T, Kawame H, Kurosawa K, Ohashi H, Tanaka Y, Filocamo M, Kato K, Suzuki Y, Kure S, Matsubara Y (2005) Germline muations in HRAS proto-oncogene cause Costello syndrome. Nat Genet 37:1038-40

2004年

1. H. Shintaku, S. Kure, T. Ohura, Y. Okano, M. Ohwada, N. Sugiyama, N. Sakura, I. Yoshida, M. Yoshino, Y. Matsubara, K. Suzuki, K. Aoki and T. Kitagawa Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene (2004) Pediatr Res 55: 425-30.
2. K. Kanno, Y. Suzuki, A. Yamada, Y. Aoki, S. Kure and Y. Matsubara Association between nonsyndromic cleft lip with or without cleft palate and the glutamic acid decarboxylase 67 in the Japanese population (2004) Am J Med Genet 127A: 11-16.
3. C. Shao, Y. Suzuki, F. Kamada, K. Kanno, M. Tamari, K. Hasegawa, Y. Aoki, S. Kure, X. Yang, H. Endo, R. Takayanaghi, C. Nakazawa, T. Morikawa, M. Morikawa, S. Miyabayashi, Y. Chiba, M. Karahashi, S. Saito, G. Tamura, T. Shirakwa and Y. Matsubara Linkage and association of childhood ashtma with the chromosome 12 genes (2004) J Hum Genet 49: 115-122.
4. K. Kojima, S. Kure, F. Kamada, K. Hao, A. Ichinohe, K. Sato, Y. Aoki, S. Yoichi, M. Kubota, R. Horikawa, A. Utsumi, M. Miura, S. Ogawa, M. Kanazawa, Y. Kohno, M. Inokuchi, T. Hasegawa, K. Narisawa and Y. Matsubara Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R (2004) Mol Genet Metab 81: 343-6.
5. X. Yang, O. Sakamoto, Y. Matsubara, S. Kure, Y. Suzuki, Y. Aoki, S. Yamaguchi, Y. Takahashi, T. Nishikubo, C. Kawaguchi, A. Yoshioka, T. Kimura, K. Hayasaka, Y. Kohno, K. Iinuma and T. Ohura Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia (2004) Mol Genet Metab 81: 335-42.
6. S. Mochizuki, H. Mizukami, T. Ogura, S. Kure, A. Ichinohe, K. Kojima, Y. Matsubara, E. Kobayahi, T. Okada, A. Hoshika, K. Ozawa and A. Kume Long-term correction of hyperphenylalaninemia by AAV-mediated gene transfer leads to behavioral recovery in phenylketonuria mice (2004) Gene Ther 11: 1081-6.
7. S. Kure, A. Ichinohe, K. Kojima, K. Sato, Z. Kizaki, F. Inoue, C. Yamanaka and Y. Matsubara Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patients (2004) J Pediatr 144: 827-9.
8. T. Kudo, T. Oshima, S. Kure, Y. Matsubara and K. Ikeda Mutation Detection of GJB2 Using IsoCode and Real-Time Quantitative Polymerase Chain Reaction With SYBR Green I Dye for Newborn Hearing Screening (2004) Laryngoscope 114: 1299-1304.
9. A. Ichinohe, S. Kure, S. Mikawa, T. Ueki, K. Kojima, K. Fujiwara, K. Iinuma, Y. Matsubara and K. Sato Glycine cleavage system in neurogenic regions (2004) Eur J Neurosci 19: 2365-70.
10. T. Hirota, K. Obara, A. Matsuda, M. Akahoshi, K. Nakashima, K. Hasegawa, N. Takahashi, M. Shimizu, H. Sekiguchi, M. Kokubo, S. Doi, H. Fujiwara, A. Miyatake, K. Fujita, T. Enomoto, F. Kishi, Y. Suzuki, H. Saito, Y. Nakamura, T. Shirakawa and M. Tamari Association between genetic variation in the gene for death-associated protein-3 (DAP3) and adult asthma (2004) J Hum Genet (on line)
11. K. Hasegawa, M. Tamari, C. Chao, M. Shimizu, N. Takahashi, X. Mao, F. Kamada, S. Doi, H. Fujiwara, A. Miyatake, K. Fujita, G. Tamura, Y. Matsubara, T. Shirakwa and Y. Suzuki Variations in C3, C3a receptor and C5 genes affect susceptibility to bronchial asthma (2004) Hum Genet (in press)
12. S. Kayano, Y. Suzuki, K. Kanno, Y. Aoki, S. Kure, A. Yamada and Y. Matsubara A significant association between nonsyndromic oral clefts and arylhydrocarbon receptor nuclear translocator (2004) Am J Med Genet (in press
13. F. Kamada, Y. Suzuki, C. Shao, M. Tamari, K. Hasegawa, S. Doi, H. Fujiwara, A. Miyatake, K. Fujita, Y. Aoki, S. Kure, G. Tamura, T. Shirakawa and Y. Matsubara hCLCA1 gene with c †hildhood and adult asthma (2004) Genes Immun (2004)

2003年

1. F. Katsuoka, H. Motohashi, Y. Tamagawa, S. Kure, K. Igarashi, J. D. Engel and M. Yamamoto Small Maf compound mutants display central nervous system neuronal degeneration, aberrant transcription, and Bach protein mislocalization coincident with myoclonus and abnormal startle response (2003) Mol Cell Biol 23: 1163-74.
2. S. Kayano, S. Kure, Y. Suzuki, K. Kanno, Y. Aoki, S. Kondo, B. C. Schutte, J. C. Murray, A. Yamada and Y. Matsubara Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion (2003) J Hum Genet 48: 622-8.
3. T. Kudo, S. Kure, K. Ikeda, A. P. Xia, Y. Katori, M. Suzuki, K. Kojima, A. Ichinohe, Y. Suzuki, Y. Aoki, T. Kobayashi and Y. Matsubara Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness (2003) Hum Mol Genet 12: 995-1004.
4. Y. Matsubara and S. Kure Detection of single nucleotide substitution by competitive allele-specific short oligonucleotide hybridization (CASSOH) with immunochromatographic strip (2003) Hum Mutat 22: 166-72.
5. K. Ouchi, Y. Suzuki, T. Shirakwa and F. Kishi Polymorphism of SLC11A1 (formerly NRAMP1) gene confers susceptibility to Kawasaki disease (2003) J Infect Dis 187: 362-364.
6. R. Santer, H. Muhle, T. Suormala, E. R. Baumgartner, M. Duran, X. Yang, Y. Aoki, Y. Suzuki and U. Stephani Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects (2003) Mol Genet Metab 79: 160-6.

2002年

1. A. N. Carr, A. G. Schmidt, Y. Suzuki, F. del Monte, Y. Sato, C. Lanner, K. Breeden, S. L. Jing, P. B. Allen, P. Greengard, A. Yatani, B. D. Hoit, I. L. Grupp, R. J. Hajjar, A. A. DePaoli-Roach and E. G. Kranias Type 1 phosphatase, a negative regulator of cardiac function (2002) Mol Cell Biol 22: 4124-35.
2. K. Kanno, Y. Suzuki, X. Yang, A. Yamada, Y. Aoki, S. Kure and Y. Matsubara Lack of evidence for a significant association between nonsyndromic cleft lip with or without cleft palate and the retinoic acid receptor alpha gene in the Japanese population (2002) J Hum Genet 47: 269-74.
3. S. Kure, K. Kojima, A. Ichinohe, T. Maeda, R. Kalmanchey, G. Fekete, S. Z. Berg, J. Filiano, Y. Aoki, Y. Suzuki, T. Izumi and Y. Matsubara Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia (2002) Ann Neurol 52: 643-6.
4. S. Tomida, T. Hanai, N. Koma, H. Honda, Y. Suzuki and T. Kobayashi Artifical Neural Network predictive model for allergic disease using single nucleotide polymorphisms data (2002) J Biosci Bioeng 93: 470-478.
5. J. R. Toone, D. A. Applegarth, S. Kure, M. B. Coulter-Mackie, P. Sazegar, K. Kojima and A. Ichinohe Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia) (2002) Mol Genet Metab 76: 243-9.

2001年

1. Y. Aoki, K. Haginoya, M. Munakata, H. Yokoyama, T. Nishio, N. Togashi, T. Ito, Y. Suzuki, S. Kure, K. Iinuma, M. Brenner and Y. Matsubara A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease (2001) Neurosci Lett 312: 71-4.
2. W. G. Aschenbach, Y. Suzuki, K. Breeden, C. Prats, M. F. Hirshman, S. D. Dufresne, K. Sakamoto, P. G. Vilardo, M. Steele, J. H. Kim, S. L. Jing, L. J. Goodyear and A. A. DePaoli-Roach The muscle-specific protein phosphatase PP1G/RGL(GM)is essential for activation of glycogen synthase by exercise (2001) J Biol Chem 276: 39959-67.
3. T. Kudo, K. Ikeda, T. Oshima, S. Kure, M. Tammasaeng, S. Prasansuk and Y. Matsubara GJB2 (Connexin 26) Mutations and Childhood Deafness in Thailand (2001) Otol Neurotol 22: 858-861.
4. S. Kure, K. Kojima, T. Kudo, K. Kanno, Y. Aoki, Y. Suzuki, T. Shinka, Y. Sakata, K. Narisawa and Y. Matsubara Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia (2001) J Hum Genet 46: 378-84.
5. C. Lanner, Y. Suzuki, C. Bi, H. Zhang, L. D. Cooper, M. M. Bowker-Kinley and A. A. DePaoli-Roach Gene structure and expression of the targeting subunit, RGL, of the muscle-specific glycogen-associated type 1 protein phosphatase, PP1G (2001) Arch Biochem Biophys 388: 135-45.
6. T. Mitsuhashi, Y. Aoki, Y. Z. Eksioglu, T. Takahashi, P. G. Bhide, S. A. Reeves and V. S. Caviness, Jr. Overexpression of p27Kip1 lengthens the G1 phase in a mouse model that targets inducible gene expression to central nervous system progenitor cells (2001) Proc Natl Acad Sci U S A 98: 6435-40.
7. T. Miyazaki, T. Ohura, M. Kobayashi, Y. Shigematsu, S. Yamaguchi, Y. Suzuki, I. Hata, Y. Aoki, X. Yang, C. Minjares, I. Haruta, H. Uto, Y. Ito and U. Muller Fatal propionic acidemia in mice lacking propionyl-CoA carboxylase and its rescue by postnatal, liver-specific supplementation via a transgene (2001) J Biol Chem 276: 35995-9.
8. T. Nakazawa, J. Satoh, K. Takahashi, Y. Sakata, F. Ikehata, Y. Takizawa, S. I. Bando, T. Housai, Y. Li, C. Chen, T. Masuda, S. Kure, I. Kato, S. Takasawa, T. Taniguchi, H. Okamoto and T. Toyota Complete Suppression of Insulitis and Diabetes in NOD mice Lacking Interferon Regulatory Factor-1 (2001) J Autoimmun 17: 119-25.
9. Y. Sakata, Y. Owada, K. Sato, K. Kojima, K. Hisanaga, T. Shinka, Y. Suzuki, Y. Aoki, J. Satoh, H. Kondo, Y. Matsubara and S. Kure Structure and expression of the glycine cleavage system in rat central nervous system (2001) Brain Res Mol Brain Res 94: 119-30.
10. Y. Suzuki, C. Lanner, J. H. Kim, P. G. Vilardo, H. Zhang, J. Yang, L. D. Cooper, M. Steele, A. Kennedy, C. B. Bock, A. Scrimgeour, J. C. Lawrence, Jr. and A. A. DePaoli-Roach Insulin control of glycogen metabolism in knockout mice lacking the muscle-specific protein phosphatase PP1G/RGL (2001) Mol Cell Biol 21: 2683-94.
11. X. Yang, Y. Aoki, X. Li, O. Sakamoto, M. Hiratsuka, S. Kure, S. Taheri, E. Christensen, K. Inui, M. Kubota, M. Ohira, M. Ohki, J. Kudoh, K. Kawasaki, K. Shibuya, A. Shintani, S. Asakawa, S. Minoshima, N. Shimizu, K. Narisawa, M. Y. and Y. Suzuki Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency (2001) Hum Genet 109: 526-534.

2000年

1. J. Akanuma, T. Nishigaki, K. Fujii, Y. Matsubara, K. Inui, K. Takahashi, S. Kure, Y. Suzuki, T. Ohura, S. Miyabayashi, E. Ogawa, K. Iinuma, S. Okada and K. Narisawa Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells (2000) Am J Med Genet 91: 107-12.
2. Y. Aoki, Z. Huang, S. S. Thomas, P. G. Bhide, I. Huang, M. A. Moskowitz and S. A. Reeves Increased susceptibility to ischemia-induced brain damage in transgenic mice overexpressing a dominant negative form of SHP2 (2000) Faseb J 14: 1965-73.
3. K. Fujii, Y. Matsubara, J. Akanuma, K. Takahashi, S. Kure, Y. Suzuki, M. Imaizumi, K. Iinuma, O. Sakatsume, P. Rinaldo and K. Narisawa Mutation detection by TaqMan-allele specific amplification: application to molecular diagnosis of glycogen storage disease type Ia and medium- chain acyl-CoA dehydrogenase deficiency (2000) Hum Mutat 15: 189-96.
4. W. L. Hwu, Y. Suzuki, X. Yang, X. Li, S. P. Chou, K. Narisawa and W. Y. Tsai Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation (2000) J Formos Med Assoc 99: 174-7.
5. T. Kudo, K. Ikeda, S. Kure, Y. Matsubara, T. Oshima, K. Watanabe, T. Kawase, K. Narisawa and T. Takasaka Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population (2000) Am J Med Genet 90: 141-5.
6. S. Kure, D. C. Hou, Y. Suzuki, A. Yamagishi, M. Hiratsuka, T. Fukuda, H. Sugie, N. Kondo, Y. Matsubara and K. Narisawa Glycogen storage disease type Ib without neutropenia (2000) J Pediatr 137: 253-6.
7. Y. Matsubara Inborn errors of metabolism: gene diagnosis and gene therapy (2000) Asian Med J 43: 532-7.
8. M. Mizugaki, M. Hiratsuka, Y. Agatsuma, Y. Matsubara, K. Fujii, S. Kure and K. Narisawa Rapid detection of CYP2C18 genotypes by real-time fluorescence polymerase chain reaction (2000) J Pharm Pharmacol 52: 199-205.
9. M. Okubo, A. Horinishi, Y. Suzuki, T. Murase and K. Hayasaka Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin (2000) Am J Med Genet 93: 211-4.
10. O. Sakamoto, E. Ogawa, T. Ohura, Y. Igarashi, Y. Matsubara, K. Narisawa and K. Iinuma Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome (2000) Pediatr Res 48: 586-9.
11. O. Sakamoto, Y. Suzuki, X. Li, Y. Aoki, M. Hiratsuka, E. Holme, J. Kudoh, N. Shimizu and K. Narisawa Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency (2000) Eur J Pediatr 159: 18-22.
12. M. Senoo, Y. Matsubara, K. Fujii, Y. Nagasaki, M. Hiratsuka, S. Kure, S. Uehara, K. Okamura, A. Yajima and K. Narisawa Adenovirus-mediated in utero gene transfer in mice and guinea pigs: tissue distribution of recombinant adenovirus determined by quantitative TaqMan-polymerase chain reaction assay (2000) Mol Genet Metab 69: 269-76.
13. K. Takahashi, J. Akanuma, Y. Matsubara, K. Fujii, S. Kure, Y. Suzuki, K. Wataya, O. Sakamoto, Y. Aoki, M. Ogasawara, T. Ohura, S. Miyabayashi and K. Narisawa Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia (2000) Am J Med Genet 92: 90-4.
14. M. Takayanagi, S. Kure, Y. Sakata, Y. Kurihara, Y. Ohya, M. Kajita, K. Tada, Y. Matsubara and K. Narisawa Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psiGLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia (2000) Hum Genet 106: 298-305.
15. X. Yang, Y. Aoki, X. Li, O. Sakamoto, M. Hiratsuka, K. M. Gibson, S. Kure, K. Narisawa, Y. Matsubara and Y. Suzuki Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations (2000) J Hum Genet 45: 358-62.

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