Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Hiromi Kamura"'
Autor:
Layla Masuda, Akihiro Hasegawa, Hiromi Kamura, Fuyuki Hasegawa, Michihiro Yamamura, Kosuke Taniguchi, Yuki Ito, Kenichiro Hata, Osamu Samura, Aikou Okamoto
Publikováno v:
Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (2024)
Abstract Type 2 spinal muscular atrophy with lower extremity dominance (SMALED2) is caused by bicaudal D cargo adaptor 2 (BICD2) variants. However, the SMALED2 genotype and phenotype correlation have not been thoroughly characterized. We identified d
Externí odkaz:
https://doaj.org/article/f328667ec5474d7ab76dccc3d414bfa8
Autor:
Naoya Kitamura, Yuki Ito, Tomoko Kawai, Hiromi Kamura, Michihiro Yamamura, Haruna Okubo, Akihiro Hasegawa, Momoko Inoue, Ken Takahashi, Michiko Miya, Hiroshi Kawame, Osamu Samura, Aikou Okamoto
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 3, Pp 418-421 (2024)
Objective: Herein, we present a case of mosaic trisomy 6 detected by amniocentesis. Case report: Amniocentesis (G-banding) was performed at 17 weeks of gestation; the results were 47,XY,+6[3]/46,XY[12]. Fetal screening ultrasonography showed no morph
Externí odkaz:
https://doaj.org/article/ad813741264b4cc3964235c9e890d556
Autor:
Keita Hasegawa, Natsuhiko Kumasaka, Kazuhiko Nakabayashi, Hiromi Kamura, Kayoko Maehara, Yoshifumi Kasuga, Kenichiro Hata, Mamoru Tanaka
Publikováno v:
Human Genome Variation, Vol 10, Iss 1, Pp 1-4 (2023)
Abstract Preterm birth (PTB), defined as the birth of a baby at
Externí odkaz:
https://doaj.org/article/d19c0671a182427580b784dbdb8c4c01
Autor:
Kohei Kashima, Tomoko Kawai, Riki Nishimura, Yuh Shiwa, Kevin Y. Urayama, Hiromi Kamura, Kazue Takeda, Saki Aoto, Atsushi Ito, Keiko Matsubara, Takeshi Nagamatsu, Tomoyuki Fujii, Isaku Omori, Mitsumasa Shimizu, Hironobu Hyodo, Koji Kugu, Kenji Matsumoto, Atsushi Shimizu, Akira Oka, Masashi Mizuguchi, Kazuhiko Nakabayashi, Kenichiro Hata, Naoto Takahashi
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-16 (2021)
Abstract Preterm birth is known to be associated with chronic disease risk in adulthood whereby epigenetic memory may play a mechanistic role in disease susceptibility. Gestational age (GA) is the most important prognostic factor for preterm infants,
Externí odkaz:
https://doaj.org/article/d19953f3e7764855b55f244b17ba277f
Autor:
Tomoko Kawai, Shiori Kinoshita, Yuka Takayama, Eriko Onishi, Hiromi Kamura, Kazuaki Kojima, Hiroki Kikuchi, Miho Terao, Tohru Sugawara, Ohsuke Migita, Masayo Kagami, Tsuyoshi Isojima, Yu Yamaguchi, Keiko Wakui, Hirofumi Ohashi, Kenji Shimizu, Seiji Mizuno, Nobuhiko Okamoto, Yoshimitsu Fukushima, Fumio Takada, Kenjiro Kosaki, Shuji Takada, Hidenori Akutsu, Kiyoe Ura, Kazuhiko Nakabayashi, Kenichiro Hata
PurposeWolf-Hirschhorn syndrome (WHS), a contiguous gene syndrome caused by the hemizygous deletion of the distal short arm of chromosome 4 whereNSD2is, reportedly exhibits specific DNA methylation signatures in peripheral blood cells. However, respo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8bf314c316d110e2bb983466a7a44174
https://doi.org/10.1101/2023.01.06.522834
https://doi.org/10.1101/2023.01.06.522834
Autor:
Isaku Omori, Akira Oka, Saki Aoto, Kazuhiko Nakabayashi, Tomoyuki Fujii, Kazue Takeda, Koji Kugu, Kenji Matsumoto, Hiromi Kamura, Kohei Kashima, Atsushi Ito, Kevin Y. Urayama, Mitsumasa Shimizu, Masashi Mizuguchi, Atsushi Shimizu, Takeshi Nagamatsu, Hironobu Hyodo, Naoto Takahashi, Yuh Shiwa, Riki Nishimura, Kenichiro Hata, Keiko Matsubara, Tomoko Kawai
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-16 (2021)
Scientific Reports
Scientific Reports
Preterm birth is known to be associated with chronic disease risk in adulthood whereby epigenetic memory may play a mechanistic role in disease susceptibility. Gestational age (GA) is the most important prognostic factor for preterm infants, and nume
Autor:
Hisanori Minakami, Takahiro Yamada, Kiyoko Kato, Kazuhiko Nakabayashi, Kenichiro Hata, Rina Akaishi, Kentaro Matsuoka, Norio Wake, Junko Tomikawa, Hiromi Kamura, Chiharu Tayama, Yuko Yamaguchi
Publikováno v:
Clinical Epigenetics
Background H19 and IGF2 genes are imprinted and involved in regulating fetal and placental growth. The H19 differentially methylated region (DMR) is paternally methylated and maternally unmethylated and regulates the imprinted expression of H19 and I
Autor:
Tadashi Kimura, Kayoko Maehara, Yuko Yamaguchi, Naoko Sugahara, Aikou Okamoto, Ayako Kono, Kentaro Matsuoka, Ohsuke Migita, Ken Higashimoto, Tomoko Miyata, Hidenobu Soejima, Kazuhiko Nakabayashi, Eisuke Kaneki, Takeshi Taniguchi, Norio Wake, Kenichiro Hata, Yuki Ito, Hiromi Kamura, Hitomi Nakamura
Publikováno v:
Gynecologic and Obstetric Investigation. 81:353-358
Aim: This study aimed to clarify the genetic and epigenetic features of recurrent hydatidiform mole (RHM) in Japanese patients. Methods: Four Japanese isolated RHM cases were analyzed using whole-exome sequencing. Villi from RHMs were collected by la
Autor:
Takako Takano, Kazuhiko Nakabayashi, Kenichiro Hata, Yasuhiro Arai, Hiromi Kamura, Hideomi Ota
Publikováno v:
European Journal of Medical Genetics. 63:103824
Complete or partial tetrasomy 21 has been reported only in rare cases. We report a Japanese female patient with tetrasomy 21 due to an extra chromosome derived from chromosome 21 (Chr21). The patient had severe psychomotor retardation without Down sy
Autor:
Hiromi Kamura, Eriko Ohnishi, Katsuhiro Arai, Ichiro Takeuchi, Hirotaka Shimizu, Kenichiro Hata
Publikováno v:
Inflammatory Bowel Diseases. 25:S21-S22