Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.
Beck DB, Petracovici A, He C, Moore HW, Louie RJ, Ansar M, Douzgou S, Sithambaram S, Cottrell T, Santos-Cortez RLP, Prijoles EJ, Bend R, Keren B, Mignot C, Nougues MC, Ounap K, Reimand T, Pajusalu S, Zahid M, Saqib MAN, Buratti J, Seaby EG, McWalter K, Telegrafi A, Baldridge D, Shinawi M, Leal SM, Schaefer GB, Stevenson RE, Banka S, Bonasio R, Fahrner JA
Am J Hum Genet. 2020 Jan 3. pii: S0002-9297(19)30471-9. doi: 10.1016/j.ajhg.2019.12.007. PubMed Article
Beck DB, Petracovici A, He C, Moore HW, Louie RJ, Ansar M, Douzgou S, Sithambaram S, Cottrell T, Santos-Cortez RLP, Prijoles EJ, Bend R, Keren B, Mignot C, Nougues MC, Ounap K, Reimand T, Pajusalu S, Zahid M, Saqib MAN, Buratti J, Seaby EG, McWalter K, Telegrafi A, Baldridge D, Shinawi M, Leal SM, Schaefer GB, Stevenson RE, Banka S, Bonasio R, Fahrner JA
Am J Hum Genet. 2020 Jan 3. pii: S0002-9297(19)30471-9. doi: 10.1016/j.ajhg.2019.12.007. PubMed Article
Plasmids from Article
| ID | Plasmid | Purpose |
|---|---|---|
| 136364 | pINTO-N3::hTET3 | Expresses epitope-tagged human TET3 WT in mammalian cells |
| 136365 | pINTO-N3::hTET3 HxD | Expresses epitope-tagged human TET3 catalytically dead (HxD mutation) in mammalian cells |
| 136366 | pINTO-N3::hTET3 F1072C | Expresses epitope-tagged human TET3 F1072C variant in mammalian cells |
| 136367 | pINTO-N3::hTET3 R752C | Expresses epitope-tagged human TET3 R752C variant in mammalian cells |
| 136368 | pINTO-N3::hTET3 A1076T | Expresses epitope-tagged human TET3 A1076C variant in mammalian cells |
| 136369 | pINTO-N3::hTET3 V1089M | Expresses epitope-tagged human TET3 V1089M variant in mammalian cells |
| 136370 | pINTO-N3::hTET3 V908L | Expresses epitope-tagged human TET3 V908L variant in mammalian cells |