医学部クラスター部門

研究成果

年別の研究成果 1978 2014 2015 2016 2017 2018 2019 2020 2021 2022 2023

• 2064 Article
• 163 Review article
• 106 Letter
• 57 Comment/debate
• 42 その他
  • 12 Editorial
  • 11 Chapter
  • 8 Conference contribution
  • 4 Paper
  • 4 Short survey
  • 2 Conference article
  • 1 Book

年別の研究成果

年別の研究成果

検索結果

• 2023

  A novel variant of ARPC4-related neurodevelopmental disorder

  Kuroda, Y., Kumaki, T., Saito, Y., Enomoto, Y., Suzuki, H., Takenouchi, T., Kosaki, K. & Kurosawa, K., 2023 3月, In: American Journal of Medical Genetics, Part A. 191, 3, p. 893-895 3 p.

  研究成果: Letter › 査読
• 2022

  Germline RUNX1 translocation in familial platelet disorder with propensity to myeloid malignancies

  Sakurai, M., Nannya, Y., Yamazaki, R., Yamaguchi, K., Koda, Y., Abe, R., Yokoyama, K., Ogawa, S. & Mori, T., 2022 1月, In: Annals of Hematology. 101, 1, p. 237-239 3 p.

  研究成果: Letter › 査読
  2 被引用数 (Scopus)

• Palmar whitish change after water exposure in a familial mild case of loricrin keratoderma (loricrin ichthyosis)

  Saito, S., Tanaka, R., Ono, N., Umegaki-Arao, N., Sasaki, T., Aoki, S., Amagai, M. & Kubo, A., 2022 11月, In: Journal of Dermatology. 49, 11, p. e405-e406

  研究成果: Letter › 査読

• Protect the kidneys against contrast medium: Re: Wu J, et al. A novel contrast-induced acute kidney injury mouse model based on low-osmolar contrast medium. Ren Fail. 2022;44:1345–1355

  Yoshida, T., 2022, In: Renal Failure. 44, 1, p. 1632-1633 2 p.

  研究成果: Letter › 査読

  Open Access

• Reply to Lv and Yang

  Kato, M., Takeuchi, Y., Hoteya, S., Oyama, T., Nonaka, S., Yoshimizu, S., Kakushima, N., Ohata, K., Yamamoto, H., Hara, Y., Doyama, H., Dohi, O., Yamasaki, Y., Ueyama, H., Takimoto, K., Kurahara, K., Tashima, T., Abe, N., Nakayama, A., Oda, I., & 1 othersYahagi, N., 2022 5月 1, In: Endoscopy. 54, 5, p. 523-524 2 p.

  研究成果: Letter › 査読

• Response

  Akimoto, T., Goto, O. & Yahagi, N., 2022 2月, In: Gastrointestinal Endoscopy. 95, 2, p. 396-397 2 p.

  研究成果: Letter › 査読

  Open Access

• Vanishing basal ganglia in ATP1A3-related polymicrogyria

  Ogawa, E., Sakaguchi, Y., Enokizono, M., Yoshihashi, H., Yamada, M., Suzuki, H., Kosaki, K., Miyama, S. & Takenouchi, T., 2022 2月, In: American Journal of Medical Genetics, Part A. 188, 2, p. 665-667 3 p.

  研究成果: Letter › 査読
• 2021

  Accuracy and stability of saliva as a sample for reverse transcription PCR detection of SARS-CoV-2

  Uwamino, Y., Nagata, M., Aoki, W., Fujimori, Y., Nakagawa, T., Yokota, H., Sakai-Tagawa, Y., Iwatsuki-Horimoto, K., Shiraki, T., Uchida, S., Uno, S., Kabata, H., Ikemura, S., Kamata, H., Ishii, M., Fukunaga, K., Kawaoka, Y., Hasegawa, N. & Murata, M., 2021 1月 1, In: Journal of Clinical Pathology. 74, 1, p. 67-68 2 p.

  研究成果: Letter › 査読
  24 被引用数 (Scopus)

• Direct visualization of the evolution of limb amputation in amnion rupture sequence in an extremely preterm infant born at 22 weeks

  Yamada, M., Arimitsu, T., Osada, A. & Kosaki, K., 2021 9月, In: American Journal of Medical Genetics, Part A. 185, 9, p. 2821-2823 3 p.

  研究成果: Letter › 査読

• Intragenic copy number variation in mouse epiplakin 1 (Eppk1) and the conservation of the repeat structures in the lower vertebrates

  Ueo, D., Furuhashi, M., Sasaki, T., Kudo, J., Parry, D. A. D., Winter, D. J., Sasaki, T., Hashimoto, T., Tsuruta, D. & Fujiwara, S., 2021 9月, In: Journal of Dermatological Science. 103, 3, p. 186-189 4 p.

  研究成果: Letter › 査読
  3 被引用数 (Scopus)

• Long-term remission of cryopyrin-associated periodic syndrome after allogeneic haematopoietic stem cell transplantation

  Mori, T., Saburi, M., Hagihara, M., Mori, M., Yamazaki, R. & Kato, J., 2021 4月 1, In: Annals of the rheumatic diseases. 80, 4, p. 542-543 2 p.

  研究成果: Letter › 査読
  2 被引用数 (Scopus)

• Peritoneal dialysis-related peritonitis caused by Paracoccus yeei

  Nakayama, T., Morimoto, K. & Uchiyama, K., 2021 10月, In: Therapeutic Apheresis and Dialysis. 25, 5, p. 715-717 3 p.

  研究成果: Letter › 査読
  1 被引用数 (Scopus)

• Response

  Nishizawa, T., Akimoto, T. & Yahagi, N., 2021 3月, In: Gastrointestinal Endoscopy. 93, 3, p. 780 1 p.

  研究成果: Letter › 査読

  Open Access

• Response to Hamosh et al.

  Biesecker, L. G., Adam, M. P., Alkuraya, F. S., Amemiya, A. R., Bamshad, M. J., Beck, A. E., Bennett, J. T., Bird, L. M., Carey, J. C., Chung, B., Clark, R. D., Cox, T. C., Curry, C., Dinulos, M. B. P., Dobyns, W. B., Giampietro, P. F., Girisha, K. M., Glass, I. A., Graham, J. M., Gripp, K. W., & 27 othersHaldeman-Englert, C. R., Hall, B. D., Innes, A. M., Kalish, J. M., Keppler-Noreuil, K. M., Kosaki, K., Kozel, B. A., Mirzaa, G. M., Mulvihill, J. J., Nowaczyk, M. J. M., Pagon, R. A., Retterer, K., Rope, A. F., Sanchez-Lara, P. A., Seaver, L. H., Shieh, J. T., Slavotinek, A. M., Sobering, A. K., Stevens, C. A., Stevenson, D. A., Tan, T. Y., Tan, W. H., Tsai, A. C., Weaver, D. D., Williams, M. S., Zackai, E. & Zarate, Y. A., 2021 9月 2, In: American Journal of Human Genetics. 108, 9, p. 1809-1810 2 p.

  研究成果: Letter › 査読

  Open Access

• Spurting delayed bleeding on postoperative day six after cold snare polypectomy for small superficial duodenal epithelial tumor

  Masunaga, T., Kato, M. & Takatori, Y., 2021 11月, In: Digestive Endoscopy. 33, 7, p. 1198 1 p.

  研究成果: Letter › 査読
  3 被引用数 (Scopus)

• Sterile abscesses possibly stem from acantholytic folliculitis in comedonal Darier disease: a case report

  Komatsu-Fujii, T., Murata, T., Adachi, E., Kaku, Y., Wada, T., Nakagawa, N., Kosugi, S., Uehara, T., Kosaki, K., Kataoka, T., Egawa, G., Dainichi, T. & Kabashima, K., 2021 9月, In: British Journal of Dermatology. 185, 3, p. 667-669 3 p.

  研究成果: Letter › 査読

• Three separate sessions of endoscopic submucosal dissection for long-segment Barrett's esophagus prevent severe esophageal stricture

  Iwata, K., Kato, M. & Yahagi, N., 2021 11月, In: Digestive Endoscopy. 33, 7, p. 1197 1 p.

  研究成果: Letter › 査読
• 2020

  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., 2020 5月 1, In: British Journal of Dermatology. 182, 5, p. 1303-1305 3 p.

  研究成果: Letter › 査読
  1 被引用数 (Scopus)

• Clinical characteristics and outcomes of duodenal-type follicular lymphoma

  Abe, R., Mori, T., Tanigawa, T., Koda, Y., Hosoe, N., Sakurai, M., Kikuchi, T., Kato, J., Shimizu, T., Ogata, H., Kanai, T., Sasaki, A., Kameyama, K. & Okamoto, S., 2020, In: Leukemia and Lymphoma. p. 3266-3268 3 p.

  研究成果: Letter › 査読
  2 被引用数 (Scopus)

• Clinical characteristics of 345 patients with coronavirus disease 2019 in Japan: A multicenter retrospective study

  for the Keio COVID-19 Research Consortium (K-CORC) and the Keio Donner Project Team, 2020 11月, In: Journal of Infection. 81, 5, p. e3-e5

  研究成果: Letter › 査読
  23 被引用数 (Scopus)

• 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 9月 1, In: International Journal of Dermatology. 59, 9, p. e334-e336

  研究成果: Letter › 査読

• Hypercoagulopathy Associated with Uniparental Disomy of Chromosome 2

  Takenouchi, T., Yamada, T., Kashiwagi, Y., Yamaguchi, Y., Uehara, T. & Kosaki, K., 2020 7月 1, In: Journal of Pediatric Hematology/Oncology. 42, 5, p. 370-371 2 p.

  研究成果: Letter › 査読

• Learning disability and myoclonic epilepsy associated with apparently synonymous but splice-disrupting JMJD1C variant that led to 21 bp deletion of the transcript

  Yamada, M., Sokoda, T., Uehara, T., Suzuki, H., Takenouchi, T., Yagihashi, T., Maruo, Y. & Kosaki, K., 2020 12月, In: American Journal of Medical Genetics, Part A. 182, 12, p. 3064-3067 4 p.

  研究成果: Letter › 査読

• Long noncoding RNAs: new players regulating vascular calcification?: Re: Bao S, et al. Genome-wide identification of lncRNAs and mRNAs differentially expressed in human vascular smooth muscle cells stimulated by high phosphorus. Ren Fail. 2020;42: 437–446

  Yoshida, T., 2020 1月 1, In: Renal Failure. 42, 1, p. 570-571 2 p.

  研究成果: Letter › 査読

  Open Access
  1 被引用数 (Scopus)

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

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

  研究成果: Letter › 査読

  Open Access

• Primary granulocytic sarcoma of the small intestine diagnosed by single-balloon enteroscopy: A case report

  Ono, K., Mikami, Y. & Hosoe, N., 2020 3月 1, In: Digestive Endoscopy. 32, 3, p. 436 1 p.

  研究成果: Letter › 査読
  1 被引用数 (Scopus)

• Severe acute pancreatitis following cold polypectomy of the minor duodenal papilla in a case with pancreas divisum

  Akimoto, T., Kato, M. & Yahagi, N., 2020 1月 1, In: Digestive Endoscopy. 32, 1, p. 151 1 p.

  研究成果: Letter › 査読
  5 被引用数 (Scopus)

• 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 1月 1, In: Journal of Dermatology. 47, 1, p. e18-e20

  研究成果: Letter › 査読
  4 被引用数 (Scopus)
• 2019

  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, In: Journal of Dermatology. 46, 8, p. e296-e298

  研究成果: Letter › 査読

• Clinical features of patients with candidemia in sepsis

  JAAM FORECAST group, 2019 7月, In: Journal of General and Family Medicine. 20, 4, p. 161-163 3 p.

  研究成果: Letter › 査読

  Open Access
  1 被引用数 (Scopus)

• CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features

  Uehara, T., Tsuchihashi, T., Yamada, M., Suzuki, H., Takenouchi, T. & Kosaki, K., 2019 12月 1, In: American Journal of Medical Genetics, Part A. 179, 12, p. 2506-2509 4 p.

  研究成果: Letter › 査読
  7 被引用数 (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月 1, In: American Journal of Medical Genetics, Part A. 179, 12, p. 2510-2513 4 p.

  研究成果: Letter › 査読
  7 被引用数 (Scopus)

• Midlife cancer/diabetes and risk of dementia and mild cognitive impairment: A population-based prospective cohort study in Japan

  For the Japan Public Health Center-based Prospective Study Group, 2019 9月 1, In: Psychiatry and Clinical Neurosciences. 73, 9, p. 597-599 3 p.

  研究成果: Letter › 査読
  3 被引用数 (Scopus)

• 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 11月 1, In: Journal of Dermatology. 46, 11, p. e416-e418

  研究成果: Letter › 査読

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

  Fujimoto, A., Uraoka, T. & Yahagi, N., 2019 4月, In: Digestive Endoscopy. 31, S1, p. 22-23 2 p.

  研究成果: Letter › 査読

  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., Kudoh, J., Murata, M. & Hasegawa, N., 2019 11月 1, In: Journal of Antimicrobial Chemotherapy. 74, 11, p. 3390-3392 3 p.

  研究成果: Letter › 査読
  5 被引用数 (Scopus)

• Response:

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

  研究成果: Letter › 査読

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

  研究成果: Letter › 査読
  2 被引用数 (Scopus)
• 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 4月, In: Journal of Dermatological Science. 90, 1, p. 90-93 4 p.

  研究成果: Letter › 査読

  • Nail-Patella Syndrome 100%
  • Mutation 49%
  • Disorder 24%
  • Haploinsufficiency 24%
  3 被引用数 (Scopus)

• Author's reply: Atrial fibrillation and sleep apnea: A chicken and egg situation

  Kimura, T., Kono, T., Fukunaga, K., Yamasawa, W., Fujisawa, T., Fukuoka, R., Nakajima, K., Kashimura, S., Kunitomi, A., Katsumata, Y., Nishiyama, T., Nishiyama, N., Aizawa, Y., Fukuda, K. & Takatsuki, S., 2018 11月 1, In: International Journal of Cardiology. 270, p. 187 1 p.

  研究成果: Letter › 査読

• 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 12月 1, In: Circulation. Genomic and precision medicine. 11, 12, p. e002317

  研究成果: Letter › 査読

  Open Access
  10 被引用数 (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 8月, In: Journal of Dermatological Science. 91, 2, p. 228-231 4 p.

  研究成果: Letter › 査読
  4 被引用数 (Scopus)

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

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

  研究成果: Letter › 査読
  3 被引用数 (Scopus)

• Need for prospective collection of experience and repeated samples in esophageal squamous cell carcinoma

  Hamamoto, Y., 2018 6月 1, In: Journal of Thoracic Disease. 10, p. S2086-S2088

  研究成果: Letter › 査読

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

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

  研究成果: Letter › 査読
  1 被引用数 (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 11月 1, In: American journal of respiratory and critical care medicine. 198, 9, p. 1231-1233 3 p.

  研究成果: Letter › 査読
  19 被引用数 (Scopus)
• 2017

  A case of rapidly grown giant pilomatricoma: Histological evaluation and immunohistochemical analysis of c-KIT

  Honda, A., Funakoshi, T., Takahashi, M., Kameyama, K. & Tanese, K., 2017 6月, In: Dermatologica Sinica. 35, 2, p. 104-105 2 p.

  研究成果: Letter › 査読
  1 被引用数 (Scopus)

• Co-occurrence of Sturge–Weber syndrome and Klippel–Trenaunay–Weber syndrome phenotype: Consideration of the historical aspect

  Sakaguchi, Y., Takenouchi, T., Uehara, T., Kishi, K., Takahashi, T. & Kosaki, K., 2017 10月, In: American Journal of Medical Genetics, Part A. 173, 10, p. 2831-2833 3 p.

  研究成果: Letter › 査読
  5 被引用数 (Scopus)

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

  Kumagai, Y., Umegaki, 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 5月, In: Journal of the European Academy of Dermatology and Venereology. 31, 5, p. e241-e243

  研究成果: Letter › 査読
  5 被引用数 (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 1月 1, In: British Journal of Dermatology. 176, 1, p. 224-226 3 p.

  研究成果: Letter › 査読
  4 被引用数 (Scopus)