Centers for Interdisciplinary Care

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Letter
2020

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) In : International Journal of Dermatology.

Research output: Contribution to journalLetter

Milky fluid elicited by cellulose triacetate membrane dialyzer, hyperlipidemia, and elevated C-reactive protein

Watanabe, S., Morita, M., Hirabayashi, N. & Yoshida, T., 2020 Jan 1, In : Renal Failure. 42, 1, p. 302-303 2 p.

Research output: Contribution to journalLetter

Open Access

Subclinical hypopigmentation of the skin and hair in a Japanese patient with Hermansky–Pudlak syndrome type 3

Saito, S., Tanaka, R., Sasaki, T., Aoki, S., Yasuhara, R., Nakayama, Y., Nagai, T., Sonobe, H., Ozawa, Y. & Kubo, A., 2020 Jan 1, In : Journal of Dermatology. 47, 1, p. e18-e20

Research output: Contribution to journalLetter

1 Citation (Scopus)
2019

A nonepidermolytic keratinocytic epidermal naevus associated with a postzygotic mutation in the gene encoding epidermal growth factor receptor

Umegaki-Arao, N., Ono, N., Tanaka, R., Sasaki, T., Fujita, H., Shiohama, A., Aoki, S., Amagai, M. & Kubo, A., 2019 Jan 1, (Accepted/In press) In : British Journal of Dermatology.

Research output: Contribution to journalLetter

Case of Conradi–Hünermann–Happle syndrome due to a nonsense mutation of c.245G>A (p.W82*)

Satake, M., Kudo, K., Sasaki, T., Furue, M. & Kubo, A., 2019 Jan 1, In : Journal of Dermatology.

Research output: Contribution to journalLetter

CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features

Uehara, T., Tsuchihashi, T., Yamada, M., Suzuki, H., Takenouchi, T. & Kosaki, K., 2019 Jan 1, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalLetter

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 Dec 1, In : American Journal of Medical Genetics, Part A. 179, 12, p. 2510-2513 4 p.

Research output: Contribution to journalLetter

Novel gene mutations in Chédiak–Higashi syndrome with hyperpigmentation

Fukuchi, K., Tatsuno, K., Sakaguchi, K., Sano, S., Sasaki, T., Aoki, S., Kubo, A. & Tokura, Y., 2019 Nov 1, In : Journal of Dermatology. 46, 11, p. e416-e418

Research output: Contribution to journalLetter

Rebamipide solution as a submucosal injection material for possible prevention of gastric stenosis after endoscopic submucosal dissection

Fujimoto, A., Uraoka, T. & Yahagi, N., 2019 Apr 1, In : Digestive Endoscopy. 31, S1, p. 22-23 2 p.

Research output: Contribution to journalLetter

Open Access

Recovery of FRI-5 carbapenemase at a Japanese hospital where FRI-4 carbapenemase was discovered

Uwamino, Y., Kubota, H., Sasaki, T., Kosaka, A., Furuhashi, M., Uno, S., Kudo, J., Murata, M. & Hasegawa, N., 2019 Nov 1, In : Journal of Antimicrobial Chemotherapy. 74, 11, p. 3390-3392 3 p.

Research output: Contribution to journalLetter

1 Citation (Scopus)

Response:

Fujimoto, A., Uraoka, T. & Yahagi, N., 2019 Mar, In : Gastrointestinal Endoscopy. 89, 3, p. 645-646 2 p.

Research output: Contribution to journalLetter

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 Nov 1, In : British Journal of Dermatology. 181, 5, p. 1104-1106 3 p.

Research output: Contribution to journalLetter

2018

A familial case of nail patella syndrome with a heterozygous in-frame indel mutation in the LIM domain of LMX1B

Mukai, M., Fujita, H., Umegaki, N., Sasaki, T., Yasuda-Sekiguchi, F., Isojima, T., Kitanaka, S., Amagai, M. & Kubo, A., 2018 Apr 1, In : Journal of Dermatological Science. 90, 1, p. 90-93 4 p.

Research output: Contribution to journalLetter

3 Citations (Scopus)

Genomic Comparison With Supercentenarians Identifies RNF213 as a Risk Gene for Pulmonary Arterial Hypertension

Suzuki, H., Kataoka, M., Hiraide, T., Aimi, Y., Yamada, Y., Katsumata, Y., Chiba, T., Kanekura, K., Isobe, S., Sato, Y., Satoh, T., Gamou, S., Fukuda, K. & Kosaki, K., 2018 Dec 1, In : Circulation. Genomic and precision medicine. 11, 12, p. e002317

Research output: Contribution to journalLetter

1 Citation (Scopus)

Intragenic copy number variation within human epiplakin 1 (EPPK1) generates variation of molecular size of epiplakin

Ishikawa, K., Furuhashi, M., Sasaki, T., Kudoh, J., Tsuchisaka, A., Hashimoto, T., Sasaki, T., Yoshioka, H., Eshima, N., Matsuda-Hirose, H., Sakai, T., Hatano, Y. & Fujiwara, S., 2018 Aug, In : Journal of Dermatological Science. 91, 2, p. 228-231 4 p.

Research output: Contribution to journalLetter

Linear keratinocytic epidermal nevi on trunk skin caused by a somatic FGFR2 p.C382R mutation

Tanaka, R., Umegaki, N., Sasaki, T., Aoki, S., Yoshida, K., Niizeki, H. & Kubo, A., 2018 Nov 1, In : Journal of Dermatology. 45, 11, p. e302-e303

Research output: Contribution to journalLetter

1 Citation (Scopus)

Novel KRT9 missense mutation in a Japanese case of epidermolytic palmoplantar keratoderma

Fukunaga, Y., Kubo, A., Sasaki, T., Tsuruta, D. & Fukai, K., 2018 Apr, In : Journal of Dermatology. 45, 4, p. e72-e73

Research output: Contribution to journalLetter

1 Citation (Scopus)

SOX17 mutations in Japanese patients with pulmonary arterial hypertension

Hiraide, T., Kataoka, M., Suzuki, H., Aimi, Y., Chiba, T., Kanekura, K., Satoh, T., Fukuda, K., Gamou, S. & Kosaki, K., 2018 Nov 1, In : American Journal of Respiratory and Critical Care Medicine. 198, 9, p. 1231-1233 3 p.

Research output: Contribution to journalLetter

4 Citations (Scopus)
2017

Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5

Kumagai, Y., Umegaki-Arao, N., Sasaki, T., Nakamura, Y., Takahashi, H., Ashida, A., Tsunemi, Y., Kawashima, M., Shimizu, A., Ishiko, A., Nakamura, K., Tsuchihashi, H., Amagai, M. & Kubo, A., 2017 May, In : Journal of the European Academy of Dermatology and Venereology. 31, 5, p. e241-e243

Research output: Contribution to journalLetter

2 Citations (Scopus)

Evaluation of pharyngo-oesophageal involvement in pemphigus vulgaris and its correlation with disease activity

Okamura, A., Nakamura, R., Yamagami, J., Ishii, K., Kawakubo, H., Omori, T., Takeuchi, H., Amagai, M. & Kitagawa, Y., 2017 Jan 1, In : British Journal of Dermatology. 176, 1, p. 224-226 3 p.

Research output: Contribution to journalLetter

3 Citations (Scopus)

Reply to 'Differences in the association between high blood pressure and cognitive functioning among the general Japanese population aged 70 and 80 years'

Ryuno, H., Kamide, K., Gondo, Y., Kabayama, M., Sugimoto, K., Ikebe, K., Ishizaki, T., Arai, Y. & Rakugi, H., 2017 Mar 1, In : Hypertension Research. 40, 3, p. 302-303 2 p.

Research output: Contribution to journalLetter

Reply to Gheorghe et al

Naganuma, M., Hosoe, N., Nakazato, Y., Ogata, H. & Kanai, T., 2017 Dec 1, In : Endoscopy. 49, 12, 1 p.

Research output: Contribution to journalLetter

2016

Pretransplant mogamulizumab against ATLL might increase the risk of acute GVHD and non-relapse mortality

Inoue, Y., Fuji, S., Tanosaki, R. & Fukuda, T., 2016 May 1, In : Bone Marrow Transplantation. 51, 5, p. 725-727 3 p.

Research output: Contribution to journalLetter

16 Citations (Scopus)
2015

Case of non-Herlitz junctional epidermolysis bullosa with COL17A1 mutation

Kasai, H., Sasaki, T., Matsuzaki, H., Yoshioka, T., Nagao, K., Amagai, M., Ishiko, A. & Kubo, A., 2015 Mar 1, In : Journal of Dermatology. 42, 3, p. 323-325 3 p.

Research output: Contribution to journalLetter

2 Citations (Scopus)

Primary Microcephaly with Anterior Predominant Pachygyria Caused by Novel Compound Heterozygous Mutations in ASPM

Nakamura, K., Inui, T., Miya, F., Kanemura, Y., Okamoto, N., Saitoh, S., Yamasaki, M., Tsunoda, T., Kosaki, K., Tanaka, S. & Kato, M., 2015 May 1, In : Pediatric Neurology. 52, 5, p. e7-e8

Research output: Contribution to journalLetter

4 Citations (Scopus)

Reply to the Letter to the Editor: How Does Ulnar Shortening Osteotomy Influence Morphologic Changes in the Triangular Fibrocartilage Complex?

Yamanaka, Y., Nakamura, T., Sato, K. & Toyama, Y., 2015 Jan 1, In : Clinical Orthopaedics and Related Research. 473, 1, p. 399-400 2 p.

Research output: Contribution to journalLetter

Response

Nagayama, A., Hayashida, T., Jinno, H., Takahashi, M. & Kitagawa, Y., 2015 Apr 1, In : Journal of the National Cancer Institute. 107, 4

Research output: Contribution to journalLetter

2014

A Japanese case of Mal de Meleda with SLURP1 mutation

Sakabe, J. I., Kabashima-Kubo, R., Kubo, A., Sasaki, T. & Tokura, Y., 2014 Aug, In : Journal of Dermatology. 41, 8, p. 764-765 2 p.

Research output: Contribution to journalLetter

5 Citations (Scopus)

Control of the treatment device for endoscopy by the left hand: Two-fingers method

Nishizawa, T., Uraoka, T., Suzuki, H., Ochiai, Y., Goto, O., Fujimoto, A., Kanai, T. & Yahagi, N., 2014 Dec 1, In : Gastrointestinal Endoscopy. 80, 6, p. 1206-1207 2 p.

Research output: Contribution to journalLetter

5 Citations (Scopus)

Control of tip deflection by right pinkie shaft grip: Right pinkie maneuver

Nishizawa, T., Uraoka, T., Suzuki, H., Ochiai, Y., Goto, O., Fujimoto, A., Maehata, T., Kanai, T. & Yahagi, N., 2014 Dec 1, In : Gastrointestinal Endoscopy. 80, 6, 1 p.

Research output: Contribution to journalLetter

3 Citations (Scopus)

The complete type of pachydermoperiostosis: A novel nonsense mutation p.E141* of the SLCO2A1 gene

Niizeki, H., Shiohama, A., Sasaki, T., Seki, A., Kabashima, K., Otsuka, A., Kosaki, K., Ogo, A., Yamada, T., Miyasaka, M., Matsuoka, K., Hirakiyama, A., Okuyama, T., Matsuda, M., Nakabayashi, K., Tanese, K., Ishiko, A., Amagai, M. & Kudoh, J., 2014 Sep, In : Journal of Dermatological Science. 75, 3, p. 193-195 3 p.

Research output: Contribution to journalLetter

17 Citations (Scopus)

The novel SLCO2A1 heterozygous missense mutation p.E427K and nonsense mutation p.R603* in a female patient with pachydermoperiostosis with an atypical phenotype

Niizeki, H., Shiohama, A., Sasaki, T., Seki, A., Kabashima, K., Otsuka, A., Takeshita, M., Hirakiyama, A., Okuyama, T., Tanese, K., Ishiko, A., Amagai, M. & Kudoh, J., 2014 Jan 1, In : British Journal of Dermatology. 170, 5, p. 1187-1189 3 p.

Research output: Contribution to journalLetter

15 Citations (Scopus)
2013

Accuracy of the centenarian numbers in Okinawa and the role of the Okinawan diet on longevity. Responses to Le Bourg about the article "Exploring the impact of climate on human longevity"

Robine, J. M., Herrmann, F. R., Arai, Y., Willcox, D. C., Gondo, Y., Hirose, N., Suzuki, M. & Saito, Y., 2013 Aug 1, In : Experimental Gerontology. 48, 8, p. 840-842 3 p.

Research output: Contribution to journalLetter

4 Citations (Scopus)
2012
5 Citations (Scopus)

EEC syndrome-like phenotype in a patient with an IRF6 mutation

Kosaki, R., Kaneko, T., Torii, C. & Kosaki, K., 2012 May 1, In : American Journal of Medical Genetics, Part A. 158 A, 5, p. 1219-1220 2 p.

Research output: Contribution to journalLetter

2 Citations (Scopus)

Reply

Hayashi, M., 2012 Sep 1, In : Nephrology Dialysis Transplantation. 27, 9, p. 3663-3664 2 p.

Research output: Contribution to journalLetter

The germline TP53 mutation c.722 C>T promotes bone and liver tumorigenesis at a young age

Osumi, T., Miharu, M., Fuchimoto, Y., Morioka, H., Kosaki, K. & Shimada, H., 2012 Dec 15, In : Pediatric Blood and Cancer. 59, 7, p. 1332-1333 2 p.

Research output: Contribution to journalLetter

3 Citations (Scopus)
2011

Monozygotic twins of Rubinstein-Taybi syndrome discordant for glaucoma

Kosaki, R., Fujita, H., Takada, H., Okada, M., Torii, C. & Kosaki, K., 2011 May 1, In : American Journal of Medical Genetics, Part A. 155, 5, p. 1189-1191 3 p.

Research output: Contribution to journalLetter

2 Citations (Scopus)

Overgrowth of prenatal onset associated with submicroscopic 9q22.3 deletion

Kosaki, R., Fujita, H., Ueoka, K., Torii, C. & Kosaki, K., 2011 Apr 1, In : American Journal of Medical Genetics, Part A. 155, 4, p. 903-905 3 p.

Research output: Contribution to journalLetter

5 Citations (Scopus)

Reproductive success in patients with Hallermann-Streiff syndrome

Numabe, H., Sawai, H., Yamagata, Z., Muto, K., Kosaki, R., Yuki, K. & Kosaki, K., 2011 Sep 1, In : American Journal of Medical Genetics, Part A. 155, 9, p. 2311-2313 3 p.

Research output: Contribution to journalLetter

Response

Goto, O., Fujishiro, M. & Koike, K., 2011 Feb 1, In : Gastrointestinal Endoscopy. 73, 2, p. 414-415 2 p.

Research output: Contribution to journalLetter

Three critical issues to consider before implementing a new genome-cohort study in Japan

Tamakoshi, A., Matsui, K., Sato, K., Masui, T. & Maruyama, E., 2011 Mar 31, In : Journal of epidemiology. 21, 2, p. 158-159 2 p.

Research output: Contribution to journalLetter

2010

Interstitial microdeletion of 4p16.3: Contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome

Izumi, K., Okuno, H., Maeyama, K., Sato, S., Yamamoto, T., Torii, C., Kosaki, R., Takahashi, T. & Kosaki, K., 2010 Apr 1, In : American Journal of Medical Genetics, Part A. 152, 4, p. 1028-1032 5 p.

Research output: Contribution to journalLetter

10 Citations (Scopus)

Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood

Izumi, K., Takagi, M., Parikh, A. S., Hahn, A., Miskovsky, S. N., Nishimura, G., Torii, C., Kosaki, K., Hasegawa, T. & Neilson, D. E., 2010 Aug 1, In : American Journal of Medical Genetics, Part A. 152, 8, p. 2115-2119 5 p.

Research output: Contribution to journalLetter

6 Citations (Scopus)

Ocular complications in mulvihill-smith syndrome

Ibrahim, O. M. A., Takefumi, Y., Dogru, M., Negishi, K., Kosaki, K. & Tsubota, K., 2010 Jun, In : Eye. 24, 6, p. 1123-1124 2 p.

Research output: Contribution to journalLetter

3 Citations (Scopus)

Transverse limb defect in a patient with Jacobsen syndrome: Concurrence of malformation and disruption

Fujita, H., Yanagi, T., Kosaki, R., Torii, C., Bamba, M., Takahashi, T. & Kosaki, K., 2010 Apr, In : American Journal of Medical Genetics, Part A. 152, 4, p. 1033-1035 3 p.

Research output: Contribution to journalLetter

6 Citations (Scopus)