Search

Your search keyword '"Uemura, Hiraku"' showing total 5 results
Start Over Author "Uemura, Hiraku"
Sorry, I don't understand your search. ×
5 results on '"Uemura, Hiraku"'

2. No evidence ofPEG1/MEST gene mutations in Silver-Russell syndrome patients

Author

Kobayashi, Shin, primary, Uemura, Hiraku, additional, Kohda, Takashi, additional, Nagai, Toshiro, additional, Chinen, Yasutsugu, additional, Naritomi, Kenji, additional, Kinoshita, Ei-ichi, additional, Ohashi, Hirofumi, additional, Imaizumi, Kiyoshi, additional, Tsukahara, Masato, additional, Sugio, Yoshitsugu, additional, Tonoki, Hidefumi, additional, Kishino, Tatsuya, additional, Tanaka, Toshiaki, additional, Yamada, Masao, additional, Tsutsumi, Osamu, additional, Niikawa, Norio, additional, Kaneko-Ishino, Tomoko, additional, and Ishino, Fumitoshi, additional

Published
2001
Full Text
View/download PDF

3. Triple Marker Screening for Trisomy 21, Trisomy 18 and Open Neural Tube Defects in Singleton Pregnancies of Native Japanese Pregnant Women

Author

Onda, Takekazu, primary, Tanaka, Tadao, additional, Yoshida, Koyo, additional, Nakamura, Yasushi, additional, Kudo, Ryuichi, additional, Yamamoto, Hiroyuki, additional, Sato, Akira, additional, Yanagida, Kaoru, additional, Takai, Yasushi, additional, Uemura, Hiraku, additional, Hoshi, Kazuhiko, additional, Fukada, Yukihito, additional, Miyake, Yoshiaki, additional, Ohnishi, Miyako, additional, Kaneoka, Tsuyoshi, additional, Makino, Yasuo, additional, Murata, Yuji, additional, Kanzaki, Toru, additional, Kanzaki, Hideharu, additional, Osaki, Takashi, additional, Aono, Toshihiro, additional, Maeda, Kazuhisa, additional, Ogita, Sachio, additional, Yamamasu, Seiichi, additional, Aso, Takeshi, additional, Shimizu, Yasufumi, additional, Izutsu, Toshihiko, additional, Kudo, Tomohiko, additional, Okai, Takashi, additional, Sakai, Masato, additional, Hashimoto, Toshirou, additional, Matsuzaki, Noboru, additional, Kitagawa, Michihiro, additional, Sago, Haruhiko, additional, Grier, Robert E., additional, and Myrick, Faye, additional

Published
2000
Full Text
View/download PDF

4. Dimeric Inhibin A as a Fourth Marker for Down's Syndrome Maternal Serum Screening in Native Japanese Women

Author

Yoshida, Koyo, primary, Kuwabara, Yoshinori, additional, Tanaka, Tadao, additional, Onda, Takekazu, additional, Kudo, Ryuichi, additional, Yamamoto, Hiroyuki, additional, Sato, Akira, additional, Yanagida, Kaoru, additional, Okai, Takashi, additional, Sakai, Masato, additional, Takai, Yasushi, additional, Uemura, Hiraku, additional, Hoshi, Kazuhiko, additional, Fukada, Yukihito, additional, Aono, Toshihiro, additional, Maeda, Kazuhisa, additional, Ogita, Sachio, additional, Ishiko, Osamu, additional, Murata, Yuji, additional, Kanzaki, Toru, additional, Myrick, Faye, additional, and Grier, Robert E., additional

Published
2000
Full Text
View/download PDF

5. No evidence of <TOGGLE>PEG1/MEST</TOGGLE> gene mutations in Silver-Russell syndrome patients

Author

Kobayashi, Shin, Uemura, Hiraku, Kohda, Takashi, Nagai, Toshiro, Chinen, Yasutsugu, Naritomi, Kenji, Kinoshita, Ei-ichi, Ohashi, Hirofumi, Imaizumi, Kiyoshi, Tsukahara, Masato, Sugio, Yoshitsugu, Tonoki, Hidefumi, Kishino, Tatsuya, Tanaka, Toshiaki, Yamada, Masao, Tsutsumi, Osamu, and Niikawa, Norio

Abstract

Silver-Russell syndrome (SRS) is characterized by prenatal and postnatal growth retardation with morphologic anomalies. Maternal uniparental disomy 7 has been reported in some SRS patients. PEG1/MEST is an imprinted gene on chromosome 7q32 that is expressed only from the paternal allele and is a candidate gene for SRS. To clarify its biological function and role in SRS, we screened PEG1/MEST abnormalities in 15 SRS patients from various standpoints. In the lymphocytes of SRS patients, no aberrant expression patterns of two splice variants (α and β) of PEG1/MEST were detected when they were compared with normal samples. Direct sequence analysis failed to detect any mutations in the PEG1/MEST α coding region, and there were no significant mutations in the 5'-flanking upstream region containing the predicted promoter and the highly conserved human/mouse genomic region. Differential methylation patterns of the CpG island for PEG1/MEST α were normally maintained and resulted in the same pattern as in the normal control, suggesting that there was no loss of imprinting. These findings suggest that PEG1/MEST can be excluded as a major determinant of SRS. © 2001 Wiley-Liss, Inc.

Published
2001
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results