Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome

BACKGROUND: ZNF597, encoding a zinc-finger protein, is the human-specific maternally expressed imprinted gene located on 16p13.3. The parent-of-origin expression of ZNF597 is regulated by the ZNF597:TSS-DMR, of which only the paternal allele acquires methylation during postimplantation period. Overe...

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Vydáno v:J Med Genet
Hlavní autoři: Yamazawa, Kazuki, Inoue, Takanobu, Sakemi, Yoshihiro, Nakashima, Toshinori, Yamashita, Hironori, Khono, Kaduki, Fujita, Hideki, Enomoto, Keisuke, Nakabayashi, Kazuhiko, Hata, Kenichiro, Nakashima, Moeko, Matsunaga, Tatsuo, Nakamura, Akie, Matsubara, Keiko, Ogata, Tsutomu, Kagami, Masayo
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 2021
Témata:
Epigenetics
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8142457/
https://ncbi.nlm.nih.gov/pubmed/32576657
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2020-107019
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