Methylation profile characteristics in the H19/IGF2:IG-DMR revealed by long-read sequencing analysis in patients with Beckwith-Wiedemann syndrome having defects in the OCT4/SOX2 binding site.

Saved in:
Bibliographic Details
Title: Methylation profile characteristics in the H19/IGF2:IG-DMR revealed by long-read sequencing analysis in patients with Beckwith-Wiedemann syndrome having defects in the OCT4/SOX2 binding site.
Authors: Masubuchi H; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 aOkura, Setagaya-Ku, Tokyo, 157-8535, Japan.; Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-Ku, Tokyo, 160-8582, Japan., Urakawa T; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 aOkura, Setagaya-Ku, Tokyo, 157-8535, Japan.; Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1, Sakamoto, Nagasaki, 852-8501, Japan., Kosaki R; Division of Medical Genetics, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo, 157-8535, Japan., Nishimura R; Department of Pediatrics, Tokyo University, 7-3-1, Hongo, Bunkyo-Ku, Tokyo, 113-8655, Japan.; Department of Pediatrics, Jichi Medical University, 3311-1, Yakushiji, Shimotsuke, 329-0498, Japan., Wada Y; Department of Pediatrics, Iwate Medical University, 2-1-1, Idaidori, Yahaba, 028-3695, Japan., Dateki S; Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1, Sakamoto, Nagasaki, 852-8501, Japan., Yagasaki H; Department of Pediatrics, University of Yamanashi, 1110, Shimokato, Chuo, 409-3898, Japan., Kagawa R; Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, 1-2-3, Kasumi, Minami-Ku, Hiroshima, 734-8551, Japan., Nishimura Y; Department of Neonatology, Hiroshima City Hiroshima Citizens Hospital, 7-33 Motomachi, Naka-Ku, Hiroshima, 730-8518, Japan., Soejima H; Department of Biomolecular Sciences, Faculty of Medicine, Saga University, 5-1-1 Nabeshima, Saga, 849-8501, Japan., Ogata T; Department of Pediatrics, Hamamatsu Medical Center, 328 Tomizuka-Cho, Chuo-Ku, Hamamatsu, 432-8580, Japan.; Department of Biochemistry, Hamamatsu University School of Medicine, 1-20-1 Handayama, Chuo-Ku, Hamamatsu, 431-3192, Japan., Fukami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 aOkura, Setagaya-Ku, Tokyo, 157-8535, Japan., Kagami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 aOkura, Setagaya-Ku, Tokyo, 157-8535, Japan. kagami-ms@ncchd.go.jp.
Source: Clinical epigenetics [Clin Epigenetics] 2026 Feb 03; Vol. 18 (1). Date of Electronic Publication: 2026 Feb 03.
Publication Type: Journal Article
Journal Info: Publisher: Biomed Central Country of Publication: Germany NLM ID: 101516977 Publication Model: Electronic Cited Medium: Internet ISSN: 1868-7083 (Electronic) Linking ISSN: 18687075 NLM ISO Abbreviation: Clin Epigenetics Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1868-7083
DOI:10.1186/s13148-026-02065-5