Centers for Interdisciplinary Care

Research Output 1973 2019

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Letter
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 Jan 1, In : Journal of Dermatology.

Research output: Contribution to journalLetter

Chondrodysplasia Punctata
Nonsense Codon

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

Haploinsufficiency
Neurodevelopmental Disorders

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 Jan 1, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalLetter

Orofaciodigital Syndromes
Genes

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 Jan 1, In : Journal of Dermatology.

Research output: Contribution to journalLetter

Chediak-Higashi Syndrome
Hyperpigmentation
Mutation
Genes

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
Stomach
Pathologic Constriction
Injections
rebamipide
Endoscopic Mucosal Resection

Response:

Fujimoto, A., Uraoka, T. & Yahagi, N., 2019 Mar 1, In : Gastrointestinal Endoscopy. 89, 3, p. 645-646 2 p.

Research output: Contribution to journalLetter

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., 2019 Jan 1, (Accepted/In press) In : Journal of Dermatology.

Research output: Contribution to journalLetter

Hermanski-Pudlak Syndrome
Hypopigmentation
Hair
Skin

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 Jan 1, (Accepted/In press) In : British Journal of Dermatology.

Research output: Contribution to journalLetter

Congenital Structural Myopathies
Hypohidrosis
Sweat
2018
3 Citations (Scopus)

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

Nail-Patella Syndrome
Nails
Mutation
Haploinsufficiency
Assays

Estimating latent tuberculosis infection using interferon-γ release assay, Japan

Nishimura, T., Ota, M., Mori, M., Hasegawa, N., Kawabe, H. & Kato, S., 2018 Nov 1, In : Emerging Infectious Diseases. 24, 11, p. 2111-2113 3 p.

Research output: Contribution to journalLetter

Interferon-gamma Release Tests
Latent Tuberculosis
Japan
1 Citation (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

Bone Morphogenetic Protein Receptors
Ubiquitin-Protein Ligases
Pedigree
Genetic Predisposition to Disease
Genomics

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

Ishikawa, K., Furuhashi, M., Sasaki, T., Kudo, J., Tsuchisaka, A., Hashimoto, T., Sasaki, T., Yoshioka, H., Eshima, N., Matsuda-Hirose, H., Sakai, T., Hatano, Y. & Fujiwara, S., 2018 Aug 1, In : Journal of Dermatological Science. 91, 2, p. 228-231 4 p.

Research output: Contribution to journalLetter

epiplakin
1 Citation (Scopus)

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

Skin
Mutation
Epidermal Nevus
Esophageal Squamous Cell Carcinoma
2 Citations (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

Pulmonary Hypertension
Mutation
2017
6 Citations (Scopus)

Disseminated Mycobacterium genavense infection in patient with adult-onset immunodeficiency

Asakura, T., Namkoong, H., Sakagami, T., Hasegawa, N., Ohkusu, K. & Nakamura, A., 2017 Jul 1, In : Emerging Infectious Diseases. 23, 7, p. 1208-1210 3 p.

Research output: Contribution to journalLetter

Mycobacterium Infections
Autoantibodies
Gene Targeting
HIV Infections
Lymph Nodes
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

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

Hypertension
Population

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