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Y

Yukiko Yatsuka

Juntendo University
H指数:11
被引数:659

个人简介

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Identification of a pathogenic RNU4-2 variant in patients with mitochondrial disease: Broadening the spectrum of non-coding RNA gene variants in mitochondrial dysfunction

在患者中发现一种致病的RNU4-2变异：拓宽线粒体功能障碍中非编码RNA基因变异的范围

Journal of Human Genetics
IF2.5
2025-07-220
PRE
Kohta Nakamura; Yoshihito Kishita; Atsuko Imai-Okazaki; Taku Omata; Maki Nodera; Yukiko Yatsuka; Ayumu Sugiura; Naoyuki Matsumoto; Holger Prokisch; Hiroshi Matsumoto; Akira Ohtake; Kei Murayama; Yasushi Okazaki
Strategic validation of variants of uncertain significance in ECHS1 genetic testing

ECHS1基因检测中不确定意义变异的策略性验证

JOURNAL OF MEDICAL GENETICS
IF3.7
2023-04-132
PRE
Kishita, Yoshihito; Sugiura, Ayumu; Onuki, Takanori; Ebihara, Tomohiro; Matsuhashi, Tetsuro; Shimura, Masaru; Fushimi, Takuya; Ichino, Noriko; Nagatakidani, Yoshie; Nishihata, Hitomi; Nitta, Kazuhiro R.; Yatsuka, Yukiko; Imai-Okazaki, Atsuko; Wu, Yibo; Osaka, Hitoshi; Ohtake, Akira; Murayama, Kei; Okazaki, Yasushi
Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A

在患有m.14453G> a的婴儿发作患者中，Leigh综合征的发展具有很高的心脏表现的可能性

Mitochondrion
IF4.5
2022-03-016
OAAI
Shimura, Masaru; Onuki, Takanori; Sugiyama, Yohei; Matsuhashi, Tetsuro; Ebihara, Tomohiro; Fushimi, Takuya; Tajika, Makiko; Ichimoto, Keiko; Matsunaga, Ayako; Tsuruoka, Tomoko; Nitta, Kazuhiro R.; Imai-Okazaki, Atsuko; Yatsuka, Yukiko; Kishita, Yoshihito; Ohtake, Akira; Okazaki, Yasushi; Murayama, Kei
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan (vol 11, 3531, 2021)

核基因缺陷引起的严重线粒体疾病的产前诊断: 日本的一项研究 (第11卷，3531，2021)

SCIENTIFIC REPORTS
IF3.9
2021-11-160
OAAI
Akiyama, Nana; Shimura, Masaru; Yamazaki, Taro; Harashima, Hiroko; Fushimi, Takuya; Tsuruoka, Tomoko; Ebihara, Tomohiro; Ichimoto, Keiko; Matsunaga, Ayako; Saito-Tsuruoka, Megumi; Yatsuka, Yukiko; Kishita, Yoshihito; Kohda, Masakazu; Namba, Akira; Kamei, Yoshimasa; Okazaki, Yasushi; Kosugi, Shinji; Ohtake, Akira; Murayama, Kei
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis

新生儿发病线粒体病的临床特征、分子诊断及预后

ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION
IF3.6
2021-10-0714
OAAI
Ebihara, Tomohiro; Nagatomo, Taro; Sugiyama, Yohei; Tsuruoka, Tomoko; Osone, Yoshiteru; Shimura, Masaru; Tajika, Makiko; Matsuhashi, Tetsuro; Ichimoto, Keiko; Matsunaga, Ayako; Akiyama, Nana; Ogawa-Tominaga, Minako; Yatsuka, Yukiko; Nitta, Kazuhiro R.; Kishita, Yoshihito; Fushimi, Takuya; Imai-Okazaki, Atsuko; Ohtake, Akira; Okazaki, Yasushi; Murayama, Kei
Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients

223例儿童线粒体病患者心肌病的长期预后和遗传背景

INTERNATIONAL JOURNAL OF CARDIOLOGY
IF3.2
2021-10-0112
OAAI
Imai-Okazaki, Atsuko; Matsunaga, Ayako; Yatsuka, Yukiko; Nitta, Kazuhiro R.; Kishita, Yoshihito; Sugiura, Ayumu; Sugiyama, Yohei; Fushimi, Takuya; Shimura, Masaru; Ichimoto, Keiko; Tajika, Makiko; Ogawa-Tominaga, Minako; Ebihara, Tomohiro; Matsuhashi, Tetsuro; Tsuruoka, Tomoko; Kohda, Masakazu; Hirata, Tomoko; Harashima, Hiroko; Nojiri, Shuko; Takeda, Atsuhito; Nakaya, Akihiro; Kogaki, Shigetoyo; Sakata, Yasushi; Ohtake, Akira; Murayama, Kei; Okazaki, Yasushi
Trigenic ADH5/ALDH2/ADGRV1 mutations in myelodysplasia with Usher syndrome

伴有Usher综合征的骨髓增生异常中的三基因ADH5/ALDH2/ADGRV1突变

HELIYON
IF3.6
2021-08-013
OAAI
Kinoshita, Shintaro; Ando, Miki; Ando, Jun; Ishii, Midori; Furukawa, Yoshiki; Tomita, Osamu; Azusawa, Yoko; Shirane, Shuichi; Kishita, Yoshihito; Yatsuka, Yukiko; Eguchi, Hidetaka; Okazaki, Yasushi; Komatsu, Norio
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan

核基因缺陷引起的严重线粒体疾病的产前诊断: 日本的一项研究

SCIENTIFIC REPORTS
IF3.9
2021-02-113
OAAI
Akiyama, Nana; Shimura, Masaru; Yamazaki, Taro; Harashima, Hiroko; Fushimi, Takuya; Tsuruoka, Tomoko; Ebihara, Tomohiro; Ichimoto, Keiko; Matsunaga, Ayako; Saito-Tsuruoka, Megumi; Yatsuka, Yukiko; Kishita, Yoshihito; Kohda, Masakazu; Namba, Akira; Kamei, Yoshimasa; Okazaki, Yasushi; Kosugi, Shinji; Ohtake, Akira; Murayama, Kei
Barth Syndrome: Different Approaches to Diagnosis
JOURNAL OF PEDIATRICS
IF3.5
2018-02-0113
PREAI
Imai-Okazaki, Atsuko; Kishita, Yoshihito; Kohda, Masakazu; Yatsuka, Yukiko; Hirata, Tomoko; Mizuno, Yosuke; Harashima, Hiroko; Hirono, Keiichi; Ichida, Fukiko; Noguchi, Atsuko; Yoshida, Masayuki; Tokorodani, Chiho; Nishiuchi, Ritsuo; Takeda, Atsuhito; Nakaya, Akihiro; Sakata, Yasushi; Murayama, Kei; Ohtake, Akira; Okazaki, Yasushi
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

全面的基因组分析揭示了线粒体呼吸链复合物缺陷的遗传景观

PLOS GENETICS
IF3.7
2016-01-07262
OAAI
Kohda, Masakazu; Tokuzawa, Yoshimi; Kishita, Yoshihito; Nyuzuki, Hiromi; Moriyama, Yohsuke; Mizuno, Yosuke; Hirata, Tomoko; Yatsuka, Yukiko; Yamashita-Sugahara, Yzumi; Nakachi, Yutaka; Kato, Hidemasa; Okuda, Akihiko; Tamaru, Shunsuke; Borna, Nurun Nahar; Banshoya, Kengo; Aigaki, Toshiro; Sato-Miyata, Yukiko; Ohnuma, Kohei; Suzuki, Tsutomu; Nagao, Asuteka; Maehata, Hazuki; Matsuda, Fumihiko; Higasa, Koichiro; Nagasaki, Masao; Yasuda, Jun; Yamamoto, Masayuki; Fushimi, Takuya; Shimura, Masaru; Kaiho-Ichimoto, Keiko; Harashima, Hiroko; Yamazaki, Taro; Mori, Masato; Murayama, Kei; Ohtake, Akira; Okazaki, Yasushi

研究方向

暂未获取到该数据
Y
Yasushi Okazaki
H 指数:65论文数:697被引数:2.7万
K
Kei Murayama
H 指数:37论文数:297被引数:5,299
A
Akira Ohtake
H 指数:43论文数:250被引数:6,011
Y
Yoshihito Kishita
H 指数:25论文数:78被引数:2,287
T
Takuya Fushimi
H 指数:14论文数:45被引数:845
M
Masaru Shimura
H 指数:22论文数:130被引数:2,390
M
Masakazu Kohda
H 指数:24论文数:70被引数:2,529
A
Atsuko Imai‐Okazaki
H 指数:10论文数:31被引数:347
A
Ayako Matsunaga
H 指数:11论文数:34被引数:414
K
Keiko Ichimoto
H 指数:13论文数:36被引数:793