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Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.
Mackay DJG, Gazdagh G, Monk D, Brioude F, Giabicani E, Krzyzewska IM, Kalish JM, Maas SM, Kagami M, Beygo J, Kahre T, Tenorio-Castano J, Ambrozaitytė L, Burnytė B, Cerrato F, Davies JH, Ferrero GB, Fjodorova O, Manero-Azua A, Pereda A, Russo S, Tannorella P, Temple KI, Õunap K, Riccio A, de Nanclares GP, Maher ER, Lapunzina P, Netchine I, Eggermann T, Bliek J, Tümer Z. Mackay DJG, et al. Among authors: kagami m. Clin Epigenetics. 2024 Aug 1;16(1):99. doi: 10.1186/s13148-024-01713-y. Clin Epigenetics. 2024. PMID: 39090763 Free PMC article. Review.
Imprinting disorders.
Eggermann T, Monk D, de Nanclares GP, Kagami M, Giabicani E, Riccio A, Tümer Z, Kalish JM, Tauber M, Duis J, Weksberg R, Maher ER, Begemann M, Elbracht M. Eggermann T, et al. Among authors: kagami m. Nat Rev Dis Primers. 2023 Jun 29;9(1):33. doi: 10.1038/s41572-023-00443-4. Nat Rev Dis Primers. 2023. PMID: 37386011 Review.
Expression levels and DNA methylation profiles of the growth gene SHOX in cartilage tissues and chondrocytes.
Hattori A, Seki A, Inaba N, Nakabayashi K, Takeda K, Tatsusmi K, Naiki Y, Nakamura A, Ishiwata K, Matsumoto K, Nasu M, Okamura K, Michigami T, Katoh-Fukui Y, Umezawa A, Ogata T, Kagami M, Fukami M. Hattori A, et al. Among authors: kagami m. Sci Rep. 2024 Apr 5;14(1):8069. doi: 10.1038/s41598-024-58530-9. Sci Rep. 2024. PMID: 38580675 Free PMC article.
Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome.
Kawai T, Kinoshita S, Takayama Y, Ohnishi E, Kamura H, Kojima K, Kikuchi H, Terao M, Sugawara T, Migita O, Kagami M, Isojima T, Yamaguchi Y, Wakui K, Ohashi H, Shimizu K, Mizuno S, Okamoto N, Fukushima Y, Takada F, Kosaki K, Takada S, Akutsu H, Ura K, Nakabayashi K, Hata K. Kawai T, et al. Among authors: kagami m. Genet Med Open. 2024 Mar 14;2:101838. doi: 10.1016/j.gimo.2024.101838. eCollection 2024. Genet Med Open. 2024. PMID: 39669601 Free PMC article.
An unstable variant of GAP43 leads to neurodevelopmental deficiency.
Noda M, Matsumoto A, Ito H, Kagami M, Tajima T, Matsumura T, Yamagata T, Nagata KI. Noda M, et al. Among authors: kagami m. Sci Rep. 2024 Dec 30;14(1):31911. doi: 10.1038/s41598-024-83445-w. Sci Rep. 2024. PMID: 39738362 Free PMC article.
Kagami-Ogata Syndrome.
Ogata T, Kagami M. Ogata T, et al. Among authors: kagami m. 2024 Oct 24. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2024 Oct 24. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 39446997 Free Books & Documents. Review.
Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance.
Urakawa T, Soejima H, Yamoto K, Hara-Isono K, Nakamura A, Kawashima S, Narusawa H, Kosaki R, Nishimura Y, Yamazawa K, Hattori T, Muramatsu Y, Inoue T, Matsubara K, Fukami M, Saitoh S, Ogata T, Kagami M. Urakawa T, et al. Among authors: kagami m. Clin Epigenetics. 2024 Oct 5;16(1):138. doi: 10.1186/s13148-024-01744-5. Clin Epigenetics. 2024. PMID: 39369220 Free PMC article.
245 results