Collaborative Research Resources

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Letter
2018

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

2014

MiR-212 and miR-132 are dispensable for mouse mammary gland development

Kayo, H., Kiga, K., Fukuda-Yuzawa, Y., Hedlund, S., Murakami, K., De La Rosa-Velazquez, I. A., Kimura, T., Shimoda, K., Tanabe, M. & Fukao, T., 2014 Aug, In : Nature genetics. 46, 8, p. 802-804 3 p.

Research output: Contribution to journalLetter

11 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)
2012

Mutations in the SASPase gene (ASPRV1) are not associated with atopic eczema or clinically dry skin

Sandilands, A., Brown, S. J., Goh, C. S., Pohler, E., Wilson, N. J., Campbell, L. E., Miyamoto, K., Kubo, A., Irvine, A. D., Thawer-Esmail, F., Munro, C. S., McLean, W. H. I., Kudoh, J., Amagai, M. & Matsui, T., 2012 May, In : Journal of Investigative Dermatology. 132, 5, p. 1507-1510 4 p.

Research output: Contribution to journalLetter

5 Citations (Scopus)
2001

Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness [4]

Ben-Yosef, T., Wattenhofer, M., Riazuddin, S., Ahmed, Z. M., Scott, H. S., Kudoh, J., Shibuya, K., Antonarakis, S. E., Bonne-Tamir, B., Radhakrishna, U., Naz, S., Ahmed, Z., Riazuddin, S., Pandya, A., Nance, W. E., Wilcox, E. R., Friedman, T. B. & Morell, R. J., 2001 Jul 3, In : Journal of medical genetics. 38, 6, p. 396-400 5 p.

Research output: Contribution to journalLetter

44 Citations (Scopus)
1997

Homogeneity of kerato-epithelin codon 124 mutations in Japanese patients with either of two types of corneal stromal dystrophy [2]

Mashima, Y., Imamura, Y., Konishi, M., Nagasawa, A., Yamada, M., Oguchi, Y., Kudoh, J. & Shimizu, N., 1997 Jan 1, In : American Journal of Human Genetics. 61, 6, p. 1448-1450 3 p.

Research output: Contribution to journalLetter

46 Citations (Scopus)
1993

DNA diagnosis of Leber's hereditary optic neuropathy by using dried blood specimens

Mashima, Y., Hiida, Y., Kubota, R., Oguchi, Y., Kudoh, J. & Shimizu, N., 1993 Jan 1, In : American Journal of Ophthalmology. 116, 6, p. 773-774 2 p.

Research output: Contribution to journalLetter

3 Citations (Scopus)