医学部臨床遺伝学センター

研究成果

2020

A call for global action for rare diseases in Africa

Baynam, G. S., Groft, S., van der Westhuizen, F. H., Gassman, S. D., du Plessis, K., Coles, E. P., Selebatso, E., Selebatso, M., Gaobinelwe, B., Selebatso, T., Joel, D., Llera, V. A., Vorster, B. C., Wuebbels, B., Djoudalbaye, B., Austin, C. P., Kumuthini, J., Forman, J., Kaufmann, P., Chipeta, J. および30人, Gavhed, D., Larsson, A., Stojiljkovic, M., Nordgren, A., Roldan, E. J. A., Taruscio, D., Wong-Rieger, D., Nowak, K., Bilkey, G. A., Easteal, S., Bowdin, S., Reichardt, J. K. V., Beltran, S., Kosaki, K., van Karnebeek, C. D. M., Gong, M., Shuyang, Z., Mehrian-Shai, R., Adams, D. R., Puri, R. D., Zhang, F., Pachter, N., Muenke, M., Nellaker, C., Gahl, W. A., Cederroth, H., Broley, S., Schoonen, M., Boycott, K. M. & Posada, M., 2020 1 1, : : Nature genetics. 52, 1, p. 21-26 6 p.

研究成果: Comment/debate

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

BioHackathon 2015: Semantics of data for life sciences and reproducible research

Katayama, T., Vos, R. A., Mishima, H., Kawano, S., Kawashima, S., Kim, J. D., Moriya, Y., Tokimatsu, T., Yamaguchi, A., Yamamoto, Y., Wu, H., Amstutz, P., Antezana, E., Aoki, N. P., Arakawa, K., Bolleman, J. T., Bolton, E., Bonnal, R. J. P., Bono, H., Burger, K. および57人, Chiba, H., Cohen, K. B., Deutsch, E. W., Fernández-Breis, J. T., Fu, G., Fujisawa, T., Fukushima, A., García, A., Goto, N., Groza, T., Hercus, C., Hoehndorf, R., Itaya, K., Juty, N., Kawashima, T., Kim, J. H., Kinjo, A. R., Kotera, M., Kozaki, K., Kumagai, S., Kushida, T., Lütteke, T., Matsubara, M., Miyamoto, J., Mohsen, A., Mori, H., Naito, Y., Nakazato, T., Nguyen-Xuan, J., Nishida, K., Nishida, N., Nishide, H., Ogishima, S., Ohta, T., Okuda, S., Paten, B., Perret, J. L., Prathipati, P., Prins, P., Queralt-Rosinach, N., Shinmachi, D., Suzuki, S., Tabata, T., Takatsuki, T., Taylor, K., Thompson, M., Uchiyama, I., Vieira, B., Wei, C. H., Wilkinson, M., Yamada, I., Yamanaka, R., Yoshitake, K., Yoshizawa, A. C., Dumontier, M., Kosaki, K. & Takagi, T., 2020, : : F1000Research. 9, 136.

研究成果: Article

公開

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

公開
公開

Epidermodysplasia verruciformis without progression to squamous cell carcinomas in an elderly man: α-human papillomavirus infection in the evolving verruca

Oiso, N., Kubo, A., Shimizu, A., Suzuki, H., Kosaki, K., Chikugo, T., Nakabayashi, K., Hata, K., Yanagihara, S., Ishikawa, O., Matsubara, Y., Amagai, M. & Kawada, A., 2020, (Accepted/In press) : : International Journal of Dermatology.

研究成果: Letter

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)

Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate (Journal of Human Genetics, (2017), 62, 9, (861-863), 10.1038/jhg.2017.53)

Kato, K., Miya, F., Hori, I., Ieda, D., Ohashi, K., Negishi, Y., Hattori, A., Okamoto, N., Kato, M., Tsunoda, T., Yamasaki, M., Kanemura, Y., Kosaki, K. & Saitoh, S., 2019 7 1, : : Journal of Human Genetics. 64, 7, p. 701-702 2 p.

研究成果: Comment/debate

公開

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)

IFT172 as the 19th gene causative of oral-facial-digital syndrome

Yamada, M., Uehara, T., Suzuki, H., Takenouchi, T., Fukushima, H., Morisada, N., Tominaga, K., Onoda, M. & Kosaki, K., 2019 12 1, : : American Journal of Medical Genetics, Part A. 179, 12, p. 2510-2513 4 p.

研究成果: Letter

1 引用 (Scopus)

Medical genetics and genomic medicine in Japan

Suzuki, H., Watanabe, T., Uehara, T. & Kosaki, K., 2019 6, : : American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 181, 2, p. 166-169 4 p.

研究成果: Review article

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

SATB2-associated syndrome in patients from Japan: Linguistic profiles

Yamada, M., Uehara, T., Suzuki, H., Takenouchi, T., Yoshihashi, H., Suzumura, H., Mizuno, S. & Kosaki, K., 2019 6, : : American Journal of Medical Genetics, Part A. 179, 6, p. 896-899 4 p.

研究成果: Review article

公開
1 引用 (Scopus)

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)

Sweat retention anhidrosis associated with tubular aggregate myopathy

Ishitsuka, Y., Inoue, S., Furuta, J., Koguchi-Yoshioka, H., Nakamura, Y., Watanabe, R., Okiyama, N., Fujisawa, Y., Enokizono, T., Fukushima, H., Suzuki, H., Nishino, I., Kosaki, K. & Fujimoto, M., 2019 11 1, : : British Journal of Dermatology. 181, 5, p. 1104-1106 3 p.

研究成果: Letter

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)