Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum.

Autor: Higashimoto K; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Saga University Faculty of Medicine, Saga, Japan., Sun F; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Saga University Faculty of Medicine, Saga, Japan.; Department of Ultrasound, Shengjing Hospital of China Medical University, Shenyang, China., Imagawa E; Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan., Saida K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan., Hara S; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Saga University Faculty of Medicine, Saga, Japan., Yatsuki H; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Saga University Faculty of Medicine, Saga, Japan., Kubiura-Ichimaru M; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Saga University Faculty of Medicine, Saga, Japan., Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Soejima H; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Saga University Faculty of Medicine, Saga, Japan soejimah@cc.saga-u.ac.jp.

Publikováno v: Journal of medical genetics [J Med Genet] 2024 May 21; Vol. 61 (6), pp. 590-594. Date of Electronic Publication: 2024 May 21.

Aberrant hypomethylation at imprinted differentially methylated regions is involved in biparental placental mesenchymal dysplasia.

Autor: Aoki S; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University, Saga, 849-8501, Japan.; Department of Obstetrics and Gynecology, Faculty of Life Sciences, Kumamoto University, Kumamoto, 860-8556, Japan., Higashimoto K; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University, Saga, 849-8501, Japan. higashim@cc.saga-u.ac.jp., Hidaka H; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University, Saga, 849-8501, Japan., Ohtsuka Y; Department of Pediatrics, Faculty of Medicine, Saga University, Saga, 849-8501, Japan., Aoki S; Department of Pathology and Microbiology, Faculty of Medicine, Saga University, Saga, 849-8501, Japan., Mishima H; Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, 852-8523, Japan., Yoshiura KI; Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, 852-8523, Japan., Nakabayashi K; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, 157-8535, Japan., Hata K; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, 157-8535, Japan., Yatsuki H; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University, Saga, 849-8501, Japan., Hara S; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University, Saga, 849-8501, Japan., Ohba T; Department of Obstetrics and Gynecology, Faculty of Life Sciences, Kumamoto University, Kumamoto, 860-8556, Japan., Katabuchi H; Department of Obstetrics and Gynecology, Faculty of Life Sciences, Kumamoto University, Kumamoto, 860-8556, Japan., Soejima H; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University, Saga, 849-8501, Japan. soejimah@cc.saga-u.ac.jp.

Publikováno v: Clinical epigenetics [Clin Epigenetics] 2022 May 17; Vol. 14 (1), pp. 64. Date of Electronic Publication: 2022 May 17.

Exploratory DNA methylation analysis in post-mortem heart tissue of sudden unexplained death.

Autor: Sutter, Charlotte¹ (AUTHOR), Haas, Cordula¹ (AUTHOR) cordula.haas@irm.uzh.ch, Bode, Peter K.² (AUTHOR), Neubauer, Jacqueline¹ (AUTHOR), Dyrberg Andersen, Jeppe³ (AUTHOR)

Publikováno v: Clinical Epigenetics. 11/22/2024, Vol. 16 Issue 1, p1-13. 13p.

DNA methylation analysis of multiple imprinted DMRs in Sotos syndrome reveals IGF2-DMR0 as a DNA methylation-dependent, P0 promoter-specific enhancer.

Autor: Watanabe H; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University, Saga, Japan.; Department of Plastic and Reconstructive Surgery, Saga University Hospital, Saga, Japan., Higashimoto K; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University, Saga, Japan., Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Morita S; Laboratory of Genome Science, Biosignal Genome Resource Center, Institute for Molecular and Cellular Regulation, Gunma University, Maebashi, Japan., Horii T; Laboratory of Genome Science, Biosignal Genome Resource Center, Institute for Molecular and Cellular Regulation, Gunma University, Maebashi, Japan., Kimura M; Laboratory of Genome Science, Biosignal Genome Resource Center, Institute for Molecular and Cellular Regulation, Gunma University, Maebashi, Japan., Suzuki T; Avian Bioscience Research Center, Graduate School of Bioagricultural Sciences, Nagoya University, Nagoya, Japan., Maeda T; Department of Pediatrics, Faculty of Medicine, Saga University, Saga, Japan., Hidaka H; Department of Internal Medicine and Gastrointestinal Endoscopy, Faculty of Medicine, Saga University, Saga, Japan., Aoki S; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University, Saga, Japan., Yatsuki H; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University, Saga, Japan., Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan., Uemura T; Department of Plastic and Reconstructive Surgery, Saga University Hospital, Saga, Japan., Hatada I; Laboratory of Genome Science, Biosignal Genome Resource Center, Institute for Molecular and Cellular Regulation, Gunma University, Maebashi, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Soejima H; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University, Saga, Japan.

Publikováno v: FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2020 Jan; Vol. 34 (1), pp. 960-973. Date of Electronic Publication: 2019 Nov 28.

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

Autor: Mackay, Deborah J. G.¹ (AUTHOR) djgm@soton.ac.uk, Gazdagh, Gabriella^1,2 (AUTHOR), Monk, David³ (AUTHOR), Brioude, Frederic⁴ (AUTHOR), Giabicani, Eloise⁴ (AUTHOR), Krzyzewska, Izabela M.⁵ (AUTHOR), Kalish, Jennifer M.^6,7 (AUTHOR), Maas, Saskia M.⁵ (AUTHOR), Kagami, Masayo⁸ (AUTHOR), Beygo, Jasmin⁹ (AUTHOR), Kahre, Tiina^10,11 (AUTHOR), Tenorio-Castano, Jair^12,13 (AUTHOR), Ambrozaitytė, Laima¹⁴ (AUTHOR), Burnytė, Birutė¹⁴ (AUTHOR), Cerrato, Flavia¹⁵ (AUTHOR), Davies, Justin H.^1,16 (AUTHOR), Ferrero, Giovanni Battista¹⁷ (AUTHOR), Fjodorova, Olga¹⁰ (AUTHOR), Manero-Azua, Africa¹⁸ (AUTHOR), Pereda, Arrate¹⁸ (AUTHOR)

Publikováno v: Clinical Epigenetics. 8/1/2024, Vol. 16 Issue 1, p1-19. 19p.