Search Results - "Yamazawa, Kazuki"

In utero undernourishment perturbs the adult sperm methylome and intergenerational metabolism by Radford, Elizabeth J., Ito, Mitsuteru, Shi, Hui, Corish, Jennifer A., Yamazawa, Kazuki, Isganaitis, Elvira, Seisenberger, Stefanie, Hore, Timothy A., Reik, Wolf, Erkek, Serap, Peters, Antoine H. F. M., Patti, Mary-Elizabeth, Ferguson-Smith, Anne C.

“…The nutritional sins of the mother… Prenatal exposures of a mother can affect the health of her offspring, but how? Radford et al. found that the male progeny…”
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Allele-specific binding of ZFP57 in the epigenetic regulation of imprinted and non-imprinted monoallelic expression by Strogantsev, Ruslan, Krueger, Felix, Yamazawa, Kazuki, Shi, Hui, Gould, Poppy, Goldman-Roberts, Megan, McEwen, Kirsten, Sun, Bowen, Pedersen, Roger, Ferguson-Smith, Anne C

“…Selective maintenance of genomic epigenetic imprints during pre-implantation development is required for parental origin-specific expression of imprinted…”
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Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum by Fuke, Tomoko, Nakamura, Akie, Inoue, Takanobu, Kawashima, Sayaka, Hara, Kaori Isono, Matsubara, Keiko, Sano, Shinichiro, Yamazawa, Kazuki, Fukami, Maki, Ogata, Tsutomu, Kagami, Masayo

“…Abstract Background (Epi)genetic disorders associated with small-for-gestational-age with short stature (SGA-SS) include imprinting disorders (IDs)…”
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Uniparental disomy and human disease: An overview by Yamazawa, Kazuki, Ogata, Tsutomu, Ferguson-Smith, Anne C.

“…Uniparental disomy (UPD) refers to the situation in which both homologues of a chromosomal region/segment have originated from only one parent. This can…”
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The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition by Yamazawa, Kazuki, Sugano, Kokichi, Tanakaya, Kohji, Inoue, Satomi, Murakami, Haruka, Nakashima, Moeko, Adachi, Masataka, Oki, Shinya, Makabe, Takeshi, Yamashita, Hiroshi, Ueki, Arisa, Sasaoka, Ayako, Nakashoji, Ayako, Kinoshita, Takayuki, Matsunaga, Tatsuo, Arai, Masami, Nakamura, Seigo, Miyata, Hiroaki, Ikegami, Masachika, Mano, Hiroyuki, Kohsaka, Shinji, Matsui, Akira

“…Substantial numbers of variants of unknown significance (VUSs) have been identified in BRCA1/2 through genetic testing, which poses a significant clinical…”
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Dynamics of transcription-mediated conversion from euchromatin to facultative heterochromatin at the Xist promoter by Tsix by Ohhata, Tatsuya, Yamazawa, Kazuki, Miura-Kamio, Asuka, Takahashi, Saori, Sakai, Satoshi, Tamura, Yuka, Uchida, Chiharu, Kitagawa, Kyoko, Niida, Hiroyuki, Hiratani, Ichiro, Kobayashi, Hisato, Kimura, Hiroshi, Wutz, Anton, Kitagawa, Masatoshi

“…The fine-scale dynamics from euchromatin (EC) to facultative heterochromatin (fHC) has remained largely unclear. Here, we focus on Xist and its silencing…”
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Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system by Fuke, Tomoko, Nakamura, Akie, Inoue, Takanobu, Kawashima, Sayaka, Hara-Isono, Kaori, Matsubara, Keiko, Sano, Shinichiro, Yamazawa, Kazuki, Fukami, Maki, Ogata, Tsutomu, Kagami, Masayo

“…Silver-Russel syndrome (SRS) is a representative imprinting disorder (ID) characterized by growth failure and diagnosed by clinical features. Recently,…”
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A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder by Yamazawa, Kazuki, Shimizu, Kenji, Ohashi, Hirofumi, Haruna, Hidenori, Inoue, Satomi, Murakami, Haruka, Matsunaga, Tatsuo, Iwata, Takeshi, Tsunoda, Kazushige, Fujinami, Kaoru

“…2p15p16.1 microdeletion syndrome is a recently recognized congenital disorder characterized by developmental delay and dysmorphic features. RP2 -associated…”
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Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome by Fuke, Tomoko, Mizuno, Seiji, Nagai, Toshiro, Hasegawa, Tomonobu, Horikawa, Reiko, Miyoshi, Yoko, Muroya, Koji, Kondoh, Tatsuro, Numakura, Chikahiko, Sato, Seiji, Nakabayashi, Kazuhiko, Tayama, Chiharu, Hata, Kenichiro, Sano, Shinichiro, Matsubara, Keiko, Kagami, Masayo, Yamazawa, Kazuki, Ogata, Tsutomu

“…Recent studies have revealed relative frequency and characteristic phenotype of two major causative factors for Silver-Russell syndrome (SRS), i.e. epimutation…”
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Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population by Murakami, Haruka, Tanimoto, Yoko, Tanimoto, Kojiro, Inoue, Satomi, Ishikawa, Taisuke, Makita, Naomasa, Yamazawa, Kazuki

“…Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary cardiomyopathy that results in fatal arrhythmias and heart failure. Herein, we report a…”
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Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance by Urakawa, Tatsuki, Soejima, Hidenobu, Yamoto, Kaori, Hara-Isono, Kaori, Nakamura, Akie, Kawashima, Sayaka, Narusawa, Hiromune, Kosaki, Rika, Nishimura, Yutaka, Yamazawa, Kazuki, Hattori, Tetsuo, Muramatsu, Yukako, Inoue, Takanobu, Matsubara, Keiko, Fukami, Maki, Saitoh, Shinji, Ogata, Tsutomu, Kagami, Masayo

“…Multi-locus imprinting disturbance (MLID) with methylation defects in various differentially methylated regions (DMRs) has recently been identified in…”
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Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients by Inoue, Takanobu, Nakamura, Akie, Iwahashi-Odano, Megumi, Tanase-Nakao, Kanako, Matsubara, Keiko, Nishioka, Junko, Maruo, Yoshihiro, Hasegawa, Yukihiro, Suzumura, Hiroshi, Sato, Seiji, Kobayashi, Yoshiyuki, Murakami, Nobuyuki, Nakabayashi, Kazuhiko, Yamazawa, Kazuki, Fuke, Tomoko, Narumi, Satoshi, Oka, Akira, Ogata, Tsutomu, Fukami, Maki, Kagami, Masayo

“…Silver-Russell syndrome (SRS) is characterized by growth failure and dysmorphic features. Major (epi)genetic causes of SRS are loss of methylation on…”
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A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma by Yagi, Yasuto, Abeto, Naoko, Shiraishi, Junichi, Miyata, Chieko, Inoue, Satomi, Murakami, Haruka, Nakashima, Moeko, Sugano, Kokichi, Ushiama, Mineko, Yoshida, Teruhiko, Yamazawa, Kazuki

“…Hereditary leiomyomatosis and renal cell carcinoma caused by loss-of-function germline variants of the FH gene can develop into aggressive renal cell carcinoma…”
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High-level heteroplasmy for the m.7445A>G mitochondrial DNA mutation can cause progressive sensorineural hearing loss in infancy by Matsushima, Kana, Nakano, Atsuko, Arimoto, Yukiko, Mutai, Hideki, Yamazawa, Kazuki, Murayama, Kei, Matsunaga, Tatsuo

“…Hearing loss caused by mutation of mitochondrial DNA typically develops in late childhood or early adulthood, but rarely in infancy. We report the…”
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Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes by Hara-Isono, Kaori, Matsubara, Keiko, Nakamura, Akie, Sano, Shinichiro, Inoue, Takanobu, Kawashima, Sayaka, Fuke, Tomoko, Yamazawa, Kazuki, Fukami, Maki, Ogata, Tsutomu, Kagami, Masayo

“…Our previous study suggested that assisted reproductive technology (ART) may be a possible risk factor for the development of epimutation-mediated imprinting…”
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A Familial Case of a Whole Germline CDC73 Deletion Discordant for Primary Hyperparathyroidism by Hatabu, Naomi, Katori, Naho, Sato, Takeshi, Maeda, Naonori, Suzuki, Eri, Komiyama, Osamu, Tsutsui, Hidemitsu, Nagao, Toshitaka, Nakauchi-Takahashi, Hana, Matsunaga, Tatsuo, Ishii, Tomohiro, Hasegawa, Tomonobu, Yamazawa, Kazuki

“…Primary hyperparathyroidism (PHPT) occurs as part of familial syndromes, including CDC73-related disorders caused by germline pathogenic variants of the CDC73…”
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Genome-wide methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndrome by Hara-Isono, Kaori, Matsubara, Keiko, Fuke, Tomoko, Yamazawa, Kazuki, Satou, Kazuhito, Murakami, Nobuyuki, Saitoh, Shinji, Nakabayashi, Kazuhiko, Hata, Kenichiro, Ogata, Tsutomu, Fukami, Maki, Kagami, Masayo

“…Imprinting disorders (IDs) show overlapping phenotypes, particularly in Silver-Russell syndrome (SRS), Temple syndrome (TS14), and Prader-Willi syndrome (PWS)…”
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Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST by Kagami, Masayo, Nagai, Toshiro, Fukami, Maki, Yamazawa, Kazuki, Ogata, Tsutomu

“…The prevalence of low birth weight (LBW) is increased in subjects born after assisted reproduction technology (ART), and defective imprinting has frequently…”
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H1foo Has a Pivotal Role in Qualifying Induced Pluripotent Stem Cells by Kunitomi, Akira, Yuasa, Shinsuke, Sugiyama, Fumihiro, Saito, Yuki, Seki, Tomohisa, Kusumoto, Dai, Kashimura, Shin, Takei, Makoto, Tohyama, Shugo, Hashimoto, Hisayuki, Egashira, Toru, Tanimoto, Yoko, Mizuno, Saori, Tanaka, Shoma, Okuno, Hironobu, Yamazawa, Kazuki, Watanabe, Hideo, Oda, Mayumi, Kaneda, Ruri, Matsuzaki, Yumi, Nagai, Toshihiro, Okano, Hideyuki, Yagami, Ken-ichi, Tanaka, Mamoru, Fukuda, Keiichi

“…Embryonic stem cells (ESCs) are a hallmark of ideal pluripotent stem cells. Epigenetic reprogramming of induced pluripotent stem cells (iPSCs) has not been…”
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Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia by Hashimoto, Nobuhiro, Dateki, Sumito, Suzuki, Eri, Tsuchihashi, Takatoshi, Isobe, Aiko, Banno, Sari, Kageyama, Tomoka, Maeda, Naonori, Hatabu, Naomi, Sato, Rieko, Miharu, Masashi, Fujita, Hisayo, Komiyama, Osamu, Shimizu, Hitomi, Hasegawa, Tomonobu, Yamazawa, Kazuki

“…Sitosterolemia is an autosomal recessive disorder that affects lipid metabolism and is characterized by elevated serum plant sterol levels, xanthomas, and…”
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