医学部臨床遺伝学センター

研究成果

フィルター
Article
2020

A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles

Fukaishi, T., Minami, I., Masuda, S., Miyachi, Y., Tsujimoto, K., Izumiyama, H., Hashimoto, K., Yoshida, M., Takahashi, S., Kashimada, K., Morio, T., Kosaki, K., Maezawa, Y., Yokote, K., Yoshimoto, T. & Yamada, T., 2020 1 1, : : Endocrine journal. 67, 2, p. 211-218 8 p.

研究成果: Article

公開

Biallelic Mutations in the LSR Gene Cause a Novel Type of Infantile Intrahepatic Cholestasis

Uehara, T., Yamada, M., Umetsu, S., Nittono, H., Suzuki, H., Fujisawa, T., Takenouchi, T., Inui, A. & Kosaki, K., 2020 6, : : Journal of Pediatrics. 221, p. 251-254 4 p.

研究成果: Article

Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15

Murakami, H., Uehara, T., Tsurusaki, Y., Enomoto, Y., Kuroda, Y., Aida, N., Kosaki, K. & Kurosawa, K., 2020 1 1, (Accepted/In press) : : Brain and Development.

研究成果: Article

公開

Cowden syndrome complicated by schizophrenia: A first clinical report

Kobayashi, Y., Takeda, T., Kunitomi, H., Ueki, A., Misu, K., Kowashi, A., Takahashi, T., Anko, M., Watanabe, K., Masuda, K., Uchida, T., Tominaga, E., Banno, K., Kosaki, K. & Aoki, D., 2020 8, : : European Journal of Medical Genetics. 63, 8, 103959.

研究成果: Article

De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes

Kondo, Y., Aoyama, K., Suzuki, H., Hattori, A., Hori, I., Ito, K., Yoshida, A., Koroki, M., Ueda, K., Kosaki, K. & Saitoh, S., 2020 12 1, : : Human Genome Variation. 7, 1, 19.

研究成果: Article

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公開

Familial hemiplegic migraine with a PRRT2 mutation: Phenotypic variations and carbamazepine efficacy

Suzuki-Muromoto, S., Kosaki, R., Kosaki, K. & Kubota, M., 2020 1 1, (Accepted/In press) : : Brain and Development.

研究成果: Article

1 引用 (Scopus)
公開

Improvement of opsoclonus after congenital cataract surgery in an infant

Yamaguchi, H., Morisada, N., Maruyama, A., Kosaki, K. & Nomura, K., 2020 1 1, : : Pediatrics International. 62, 1, p. 108-109 2 p.

研究成果: Article

Mexiletine shortens the QT interval in a pedigree of KCNH2 related long QT syndrome

Fujisawa, T., Aizawa, Y., Katsumata, Y., Kimura, K., Hashimoto, K., Yamashita, T., Miyama, H., Kimura, T., Kosaki, K., Takatsuki, S., Shimizu, W. & Fukuda, K., 2020 2 1, : : journal of arrhythmia. 36, 1, p. 193-196 4 p.

研究成果: Article

公開

Novel ARX mutation identified in infantile spasm syndrome patient

Takeshita, Y., Ohto, T., Enokizono, T., Tanaka, M., Suzuki, H., Fukushima, H., Uehara, T., Takenouchi, T., Kosaki, K. & Takada, H., 2020 12 1, : : Human Genome Variation. 7, 1, 9.

研究成果: Article

公開

The Undiagnosed Diseases Network International: Five years and more!

Taruscio, D., Baynam, G., Cederroth, H., Groft, S. C., Klee, E. W., Kosaki, K., Lasko, P., Melegh, B., Riess, O., Salvatore, M. & Gahl, W. A., 2020 4, : : Molecular Genetics and Metabolism. 129, 4, p. 243-254 12 p.

研究成果: Article

Variant in the neuronal vesicular SNARE VAMP2 (synaptobrevin-2): First report in Japan

Sunaga, Y., Muramatsu, K., Kosaki, K., Sugai, K., Mizuno, T., Kouno, M. & Tashiro, M., 2020 1 1, (Accepted/In press) : : Brain and Development.

研究成果: Article

2019

A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2

Saeki, S., Enokizono, T., Imagawa, K., Fukushima, H., Kajikawa, D., Sakai, A., Tanaka, M., Ohto, T., Suzuki, H., Uehara, T., Takenouchi, T., Kenjiro, K. & Takada, H., 2019 11 1, : : Clinical Case Reports. 7, 11, p. 2059-2063 5 p.

研究成果: Article

公開

A case of familial episodic pain syndrome with SCN11A mutation treated prophylactically with sodium channel blockers

Tanaka, F., Goto, T., Ogawa, E., Moriyama, S., Ito, A., Kurosawa, K. & Kosaki, K., 2019 1 1, : : NO TO HATTATSU. 51, 4, p. 266-270 5 p.

研究成果: Article

Acromegaly caused by a somatotroph adenoma in patient with neurofibromatosis type 1

Hozumi, K., Fukuoka, H., Odake, Y., Takeuchi, T., Uehara, T., Sato, T., Inoshita, N., Yoshida, K., Matsumoto, R., Bando, H., Hirota, Y., Iguchi, G., Taniguchi, M., Otsuki, N., Nishigori, C., Kosaki, K., Hasegawa, T., Ogawa, W. & Takahashi, Y., 2019, : : Endocrine journal. 66, 10, p. 853-857 5 p.

研究成果: Article

公開
1 引用 (Scopus)

A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay

Ueno, Y., Enokizono, T., Fukushima, H., Ohto, T., Imagawa, K., Tanaka, M., Sakai, A., Suzuki, H., Uehara, T., Takenouchi, T., Kosaki, K. & Takada, H., 2019 12 1, : : Human Genome Variation. 6, 1, 25.

研究成果: Article

公開
1 引用 (Scopus)

Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes

Kubo, A., Sasaki, T., Suzuki, H., Shiohama, A., Aoki, S., Sato, S., Fujita, H., Ono, N., Umegaki-Arao, N., Kawai, T., Nakabayashi, K., Hata, K., Yamada, D., Matsubara, Y., Kosaki, K. & Amagai, M., 2019 12, : : Journal of Investigative Dermatology. 139, 12, p. 2458-2466.e9

研究成果: Article

公開
3 引用 (Scopus)
1 引用 (Scopus)

De novo NSF mutations cause early infantile epileptic encephalopathy

Suzuki, H., Yoshida, T., Morisada, N., Uehara, T., Kosaki, K., Sato, K., Matsubara, K., Takano-Shimizu, T. & Takenouchi, T., 2019 11 1, : : Annals of Clinical and Translational Neurology. 6, 11, p. 2334-2339 6 p.

研究成果: Article

公開
2 引用 (Scopus)

Establishment of immunity against Epstein-Barr virus infection in a patient with CHARGE/complete DiGeorge syndrome after peripheral blood lymphocyte transfusion

Hosaka, S., Kobayashi, C., Saito, H., Imai-Saito, A., Suzuki, R., Iwabuchi, A., Kato, Y., Jimbo, T., Watanabe, N., Onodera, M., Imadome, K. I., Masumoto, K., Nanmoku, T., Fukushima, T., Kosaki, K., Sumazaki, R. & Takada, H., 2019 1 1, : : Pediatric Transplantation. e13424.

研究成果: Article

Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan

Mishima, H., Suzuki, H., Doi, M., Miyazaki, M., Watanabe, S., Matsumoto, T., Morifuji, K., Moriuchi, H., Yoshiura, K. I., Kondoh, T. & Kosaki, K., 2019 8 1, : : Journal of Human Genetics. 64, 8, p. 789-794 6 p.

研究成果: Article

8 引用 (Scopus)

Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare

Yasuda, J., Kinoshita, K., Katsuoka, F., Danjoh, I., Sakurai-Yageta, M., Motoike, I. N., Kuroki, Y., Saito, S., Kojima, K., Shirota, M., Saigusa, D., Otsuki, A., Kawashima, J., Yamaguchi-Kabata, Y., Tadaka, S., Aoki, Y., Mimori, T., Kumada, K., Inoue, J., Makino, S. および31人, Kuriki, M., Fuse, N., Koshiba, S., Tanabe, O., Nagasaki, M., Tamiya, G., Shimizu, R., Takai-Igarashi, T., Ogishima, S., Hozawa, A., Kuriyama, S., Sugawara, J., Tsuboi, A., Kiyomoto, H., Ishii, T., Tomita, H., Minegishi, N., Suzuki, Y., Suzuki, K., Kawame, H., Tanaka, H., Taki, Y., Yaegashi, N., Kure, S., Nagami, F., Kosaki, K., Sutoh, Y., Hachiya, T., Shimizu, A., Sasaki, M. & Yamamoto, M., 2019 2 1, : : Journal of biochemistry. 165, 2, p. 139-158 20 p.

研究成果: Article

11 引用 (Scopus)
1 引用 (Scopus)

MGeND: an integrated database for Japanese clinical and genomic information

Kamada, M., Nakatsui, M., Kojima, R., Nohara, S., Uchino, E., Tanishima, S., Sugiyama, M., Kosaki, K., Tokunaga, K., Mizokami, M. & Okuno, Y., 2019 12 1, : : Human Genome Variation. 6, 1, 53.

研究成果: Article

公開

Mutations of RAS genes in endometrial polyps

Takeda, T., Banno, K., Kobayashi, Y., Adachi, M., Yanokura, M., Tominaga, E., Kosaki, K. & Aoki, D., 2019 1 1, : : Oncology reports. 42, 6, p. 2303-2308 6 p.

研究成果: Article

公開

Pathogenetic basis of Takenouchi-Kosaki syndrome: Electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans model

Uehara, T., Suzuki, H., Okamoto, N., Kondoh, T., Ahmad, A., O’Connor, B. C., Yoshina, S., Mitani, S., Kosaki, K. & Takenouchi, T., 2019 12 1, : : Scientific reports. 9, 1, 4418.

研究成果: Article

公開
4 引用 (Scopus)
公開
1 引用 (Scopus)

Poor outcomes in carriers of the RNF213 variant (p.Arg4810Lys) with pulmonary arterial hypertension

Hiraide, T., Kataoka, M., Suzuki, H., Aimi, Y., Chiba, T., Isobe, S., Katsumata, Y., Goto, S., Kanekura, K., Yamada, Y., Moriyama, H., Kitakata, H., Endo, J., Yuasa, S., Arai, Y., Hirose, N., Satoh, T., Hakamata, Y., Sano, M., Gamou, S. および2人, Kosaki, K. & Fukuda, K., 2019 1 1, (Accepted/In press) : : Journal of Heart and Lung Transplantation.

研究成果: Article

2 引用 (Scopus)

Refractory epilepsy and regression in a patient with a de novo heterozygous POGZ mutation

Yamagata, S., Hattori, A., Miya, F., Kubota, Y., Endo, T., Negishi, Y., Nakamura, Y., Tsunoda, T., Kosaki, K. & Saitoh, S., 2019, : : NO TO HATTATSU. 51, 1, p. 29-32 4 p.

研究成果: Article

Schuurs-Hoeijmakers syndrome in two patients from Japan

Hoshino, Y., Enokizono, T., Imagawa, K., Tanaka, R., Suzuki, H., Fukushima, H., Arai, J., Sumazaki, R., Uehara, T., Takenouchi, T. & Kosaki, K., 2019 3, : : American Journal of Medical Genetics, Part A. 179, 3, p. 341-343 3 p.

研究成果: Article

1 引用 (Scopus)
2018

A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome

Hori, I., Miya, F., Negishi, Y., Hattori, A., Ando, N., Boroevich, K. A., Okamoto, N., Kato, M., Tsunoda, T., Yamasaki, M., Kanemura, Y., Kosaki, K. & Saitoh, S., 2018 6 15, (Accepted/In press) : : Journal of Human Genetics. p. 1-7 7 p.

研究成果: Article

2 引用 (Scopus)
3 引用 (Scopus)

Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese

Okada, Y., Momozawa, Y., Sakaue, S., Kanai, M., Ishigaki, K., Akiyama, M., Kishikawa, T., Arai, Y., Sasaki, T., Kosaki, K., Suematsu, M., Matsuda, K., Yamamoto, K., Kubo, M., Hirose, N. & Kamatani, Y., 2018 12 1, : : Nature communications. 9, 1, 1631.

研究成果: Article

30 引用 (Scopus)

Development of monomorphic ventricular tachycardia in a patient with fever-induced Brugada syndrome

Sato, Y., Aizawa, Y., Fujisawa, T., Ito, S., Katano, K., Fuse, N., Miyabe, A., Osada, K., Ishihara, R., Tosaka, A., Tamamura, T., Mizumura, T., Sugimura, Y., Nakajima, K., Katsumata, Y., Nishiyama, T., Kimura, T., Furukawa, Y., Takatsuki, S., Kosaki, K. および1人, Fukuda, K., 2018 1 1, : : journal of arrhythmia. 34, 4, p. 465-468 4 p.

研究成果: Article

1 引用 (Scopus)
3 引用 (Scopus)

Growth pattern of Rahman syndrome

Takenouchi, T., Uehara, T., Kosaki, K. & Mizuno, S., 2018 3 1, : : American Journal of Medical Genetics, Part A. 176, 3, p. 712-714 3 p.

研究成果: Article

2 引用 (Scopus)
1 引用 (Scopus)

IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis

Shigemizu, D., Miya, F., Akiyama, S., Okuda, S., Boroevich, K. A., Fujimoto, A., Nakagawa, H., Ozaki, K., Niida, S., Kanemura, Y., Okamoto, N., Saitoh, S., Kato, M., Yamasaki, M., Matsunaga, T., Mutai, H., Kosaki, K. & Tsunoda, T., 2018 12 1, : : Scientific Reports. 8, 1, 5608.

研究成果: Article

3 引用 (Scopus)

MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome

Kato, K., Miya, F., Hamada, N., Negishi, Y., Narumi-Kishimoto, Y., Ozawa, H., Ito, H., Hori, I., Hattori, A., Okamoto, N., Kato, M., Tsunoda, T., Kanemura, Y., Kosaki, K., Takahashi, Y., Nagata, K. I. & Saitoh, S., 2018, (Accepted/In press) : : Journal of medical genetics.

研究成果: Article

1 引用 (Scopus)