Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Yoko Aoki"'
Autor:
Shingo Takahara, Sachiko Miyagawa-Tomita, Tetsuya Niihori, Yoko Aoki, Shin Ichi Inoue, Yoshikatsu Saiki, Yoichi Matsubara, Katsuhisa Matsuura, Yasumi Nakashima
Publikováno v:
EBioMedicine. 42:43-53
Background: Noonan syndrome (NS) is a genetic disorder characterized by short stature, a distinctive facial appearance, and heart defects. We recently discovered a novel NS gene, RIT1, which is a member of the RAS subfamily of small GTPases. NS patie
Autor:
Shuhei Kobayashi, Shigeo Kure, Hiroki Kudo, Atsuo Kikuchi, Satoshi Kumakura, Naoto Ishii, Sou Niitsuma, Kazumoto Iijima, Shoji Kagami, Matsuyuki Shirota, Takaya Hayashi, Takanori So, Shuji Kondo, Naonori Kumagai, Hiroyasu Tsukaguchi, Keiko Nakayama, Yoko Aoki, Tetsuya Niihori, Yuko Okuyama, Ryo Funayama
Publikováno v:
International immunology. 32(4)
Nephrotic syndrome (NS) is a renal disease characterized by severe proteinuria and hypoproteinemia. Although several single-gene mutations have been associated with steroid-resistant NS, causative genes for steroid-sensitive NS (SSNS) have not been c
Autor:
Seiji Yamaguchi, Daiju Oba, Yoko Aoki, Shin Ichi Inoue, Tetsuya Niihori, Yoichi Matsubara, Sachiko Miyagawa-Tomita, Yasumi Nakashima
Publikováno v:
EBioMedicine, Vol 27, Iss C, Pp 138-150 (2018)
EBioMedicine
EBioMedicine
Costello syndrome is a "RASopathy" that is characterized by growth retardation, dysmorphic facial appearance, hypertrophic cardiomyopathy and tumor predisposition. >80% of patients with Costello syndrome harbor a heterozygous germline G12S mutation i
Autor:
Yoichi Matsubara, Shingo Takahara, Kazuhiko Yanai, Yoko Aoki, Shin Ichi Inoue, Tetsuya Niihori, Takeo Yoshikawa
Publikováno v:
Human Molecular Genetics. 26:4715-4727
Germline mutations in BRAF are a major cause of cardio-facio-cutaneous (CFC) syndrome, which is characterized by heart defects, characteristic craniofacial dysmorphology and dermatologic abnormalities. Patients with CFC syndrome also commonly show ga
Autor:
Yoko Aoki, Takao Itoi, Kentaro Ishii, Eriko Nakano, Yoichi Matsubara, Ryo Funayama, Tsukasa Ikeura, Kiyoshi Kume, Kalliope N. Diakopoulos, Marc Freichel, Emmanuelle Masson, Reiko Sakaguchi, Ulrich Kriebs, Peter Bugert, Masayuki X. Mori, Franziska Lena Sörgel, Hiroshi Kotani, Yoichi Kakuta, Volodymyr Tsvilovskyy, Tetsuya Kawamoto, Atsushi Masamune, Helmut Laumen, Shin Hamada, Tatsuya Hirano, Claude Férec, Matsuyuki Shirota, Jian-Min Chen, Petra Weißgerber, Tom Kaune, Yasuhito Uezono, Jonas Rosendahl, Keiko Nakayama, Alexandra Berninger, Heiko Witt, Masao Nagasaki, Tooru Shimosegawa, Claudia Fecher-Trost, Maren Ewers, Yasuo Mori, Hana Algül, Lara Unger, Kazuichi Okazaki, Marina Lesina, Atsuki Hosokoshi, Tetsuya Niihori
Publikováno v:
Gastroenterology. 158(6)
Background & Aims Changes in pancreatic calcium levels affect secretion and might be involved in development of chronic pancreatitis (CP). We investigated the association of CP with the transient receptor potential cation channel subfamily V member 6
Autor:
Kota Sato, Setsuya Aiba, Matsuyuki Shirota, Naoki Shimizu, Ryo Onuma, Ryo Sato, Akimune Kaga, Tetsuya Niihori, Eriko Totsune, Junya Ito, Ryo Funayama, Atsuo Kikuchi, Yoko Aoki, Toru Nakazawa, Yoichi Wada, Fumiyoshi Fujishima, Keiko Nakayama, Shigeo Kure, Kiyotaka Nakagawa
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 16, Iss 2, p e1008628 (2020)
PLoS Genetics, Vol 16, Iss 2, p e1008628 (2020)
Skin lesions, cataracts, and congenital anomalies have been frequently associated with inherited deficiencies in enzymes that synthesize cholesterol. Lanosterol synthase (LSS) converts (S)-2,3-epoxysqualene to lanosterol in the cholesterol biosynthes
Publikováno v:
Human molecular genetics. 28(1)
Cardio-facio-cutaneous (CFC) syndrome, a genetic disorder caused by germline mutations in BRAF, KRAS, MAP2K1 and MAP2K2, is characterized by growth retardation, heart defects, dysmorphic facial appearance and dermatologic abnormalities. We have previ
Autor:
Yasuko Kobayashi, Heon Yung Gee, Juergen Strehlau, York Pei, Shigeo Kure, Therese Jungraithmayr, Kirk N. Campbell, Shirlee Shril, Assel Rakhmetova, Weizhen Tan, Henry Fehrenbach, Mohamad Aman Jairajpuri, Amelie T. van der Ven, Sharon Rose Wassmer, Aravind Selvin Kumar, Friedhelm Hildebrandt, Naonori Kumagai, Neveen A. Soliman, Tilman Jobst-Schwan, Shrikant M. Mane, Jennifer A. Lawson, Atsuo Kikuchi, Ankana Daga, Boon Chuan Low, Hildegard Zappel, Denny Schanze, Martin Zenker, Svjetlana Lovric, Sherif El Desoky, Natasa Stajic, Kandai Nozu, Lewis Kaufman, Jameela A. Kari, Hiroki Kudo, Carolin E. Sadowski, Hiroyasu Tsukaguchi, Jenny Wong, Takumi Takizawa, Jillian K. Warejko, Kazumoto Iijima, Kay Metcalfe, David Schapiro, Daniela A. Braun, Johanna Magdalena Schmidt, Tobias Hermle, Brajendra K. Tripathi, Hiroshi Kaito, Eugen Widmeier, Radovan Bogdanovic, Merlin Airik, Douglas R. Lowy, Keiko Nakayama, Werner L. Pabst, Ryo Funayama, Arvind Bagga, Amar J. Majmundar, Ryojiro Tanaka, Richard P. Lifton, Tetsuya Niihori, Jia Rao, Kiyoshi Hamahira, Sawsan M Jalalah, Yoko Aoki, Anjali Gupta, Shazia Ashraf
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)
Nature Communications
Ashraf, S, Kudo, H, Rao, J, Kikuchi, A, Widmeier, E, Lawson, J A, Tan, W, Hermle, T, Warejko, J K, Shril, S, Airik, M, Jobst-Schwan, T, Lovric, S, Braun, D A, Gee, H Y, Schapiro, D, Majmundar, A J, Sadowski, C E, Pabst, W L, Daga, A, Van Der Ven, A T, Schmidt, J M, Low, B C, Gupta, A B, Tripathi, B K, 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, J A, El Desoky, S, Jalalah, S, Bogdanovic, R, Stajić, N, Zappel, H, Rakhmetova, A, Wassmer, S R, Jungraithmayr, T, Strehlau, J, Kumar, A S, Bagga, A, Soliman, N A, Mane, S M, Kaufman, L, Lowy, D R, Jairajpuri, M A, Lifton, R P, Pei, Y, Zenker, M, Kure, S & Hildebrandt, F 2018, ' Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment ', Nature Communications, vol. 9, no. 1, 1960 . https://doi.org/10.1038/s41467-018-04193-w
Ashraf, S, Kudo, H, Rao, J, Kikuchi, A, Widmeier, E, Lawson, J A, Tan, W, Hermle, T, Warejko, J K, Shril, S, Airik, M, Jobst-Schwan, T, Lovric, S, Braun, D A, Gee, H Y, Schapiro, D, Majmundar, A J, Sadowski, C E, Pabst, W L, Daga, A, Van Der Ven, A T, Schmidt, J M, Low, B C, Gupta, A B, Tripathi, B K, 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, J A, El Desoky, S, Jalalah, S, Bogdanovic, R, Stajić, N, Zappel, H & Rakhmetova, A 2018, ' Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment ', Nature Communications, vol. 9, 1960 . https://doi.org/10.1038/s41467-018-04193-w
Nature Communications
Ashraf, S, Kudo, H, Rao, J, Kikuchi, A, Widmeier, E, Lawson, J A, Tan, W, Hermle, T, Warejko, J K, Shril, S, Airik, M, Jobst-Schwan, T, Lovric, S, Braun, D A, Gee, H Y, Schapiro, D, Majmundar, A J, Sadowski, C E, Pabst, W L, Daga, A, Van Der Ven, A T, Schmidt, J M, Low, B C, Gupta, A B, Tripathi, B K, 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, J A, El Desoky, S, Jalalah, S, Bogdanovic, R, Stajić, N, Zappel, H, Rakhmetova, A, Wassmer, S R, Jungraithmayr, T, Strehlau, J, Kumar, A S, Bagga, A, Soliman, N A, Mane, S M, Kaufman, L, Lowy, D R, Jairajpuri, M A, Lifton, R P, Pei, Y, Zenker, M, Kure, S & Hildebrandt, F 2018, ' Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment ', Nature Communications, vol. 9, no. 1, 1960 . https://doi.org/10.1038/s41467-018-04193-w
Ashraf, S, Kudo, H, Rao, J, Kikuchi, A, Widmeier, E, Lawson, J A, Tan, W, Hermle, T, Warejko, J K, Shril, S, Airik, M, Jobst-Schwan, T, Lovric, S, Braun, D A, Gee, H Y, Schapiro, D, Majmundar, A J, Sadowski, C E, Pabst, W L, Daga, A, Van Der Ven, A T, Schmidt, J M, Low, B C, Gupta, A B, Tripathi, B K, 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, J A, El Desoky, S, Jalalah, S, Bogdanovic, R, Stajić, N, Zappel, H & Rakhmetova, A 2018, ' Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment ', Nature Communications, vol. 9, 1960 . https://doi.org/10.1038/s41467-018-04193-w
No efficient treatment exists for nephrotic syndrome (NS), a frequent cause of chronic kidney disease. Here we show mutations in six different genes (MAGI2, TNS2, DLC1, CDK20, ITSN1, ITSN2) as causing NS in 17 families with partially treatment-sensit
Autor:
Yuka Saito, Takeshi Rikiishi, Seiji Kojima, Shigeru Tsuchiya, Hideki Muramatsu, Masue Imaizumi, Shigeo Kure, Yoko Aoki, Yoichi Matsubara, Hideki Makishima, Tetsuya Niihori, Jaroslaw P. Maciejewski, Yoji Sasahara
Publikováno v:
Leukemia Research. 36:1009-1015
Somatic CBL mutations have been reported in a variety of myeloid neoplasms but are rare in acute lymphoblastic leukemia (ALL). We analyzed 77 samples from hematologic malignancies, identifying a somatic mutation in CBL (p.C381R) in one patient with T
Autor:
Daiju Oba, Yoichi Matsubara, Yasumi Nakashima, Tetsuya Niihori, Yoko Aoki, Shin Ichi Inoue, Shigeo Kure, Mitsuji Moriya, Sachiko Miyagawa-Tomita, Misato Hashi, Hiroshi Ohnishi
Publikováno v:
Human molecular genetics. 24(25)
Activation of the RAS pathway has been implicated in oncogenesis and developmental disorders called RASopathies. Germline mutations in BRAF have been identified in 50-75% of patients with cardio-facio-cutaneous (CFC) syndrome, which is characterized