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PubMed (GeneRIF) for id: 27245

9 results

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Page 1
AT-hook DNA-binding motif-containing protein one knockdown downregulates EWS-FLI1 transcriptional activity in Ewing's sarcoma cells.
Kitagawa T, Kobayashi D, Baron B, Okita H, Miyamoto T, Takai R, Paudel D, Ohta T, Asaoka Y, Tokunaga M, Nakagawa K, Furutani-Seiki M, Araki N, Kuramitsu Y, Kobayashi M. Kitagawa T, et al. PLoS One. 2022 Oct 4;17(10):e0269077. doi: 10.1371/journal.pone.0269077. eCollection 2022. PLoS One. 2022. PMID: 36194562 Free PMC article.
Gibbin mesodermal regulation patterns epithelial development.
Collier A, Liu A, Torkelson J, Pattison J, Gaddam S, Zhen H, Patel T, McCarthy K, Ghanim H, Oro AE. Collier A, et al. Nature. 2022 Jun;606(7912):188-196. doi: 10.1038/s41586-022-04727-9. Epub 2022 May 18. Nature. 2022. PMID: 35585237 Free PMC article.
Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.
Faergeman SL, Bojesen AB, Rasmussen M, Becher N, Andreasen L, Andersen BN, Erbs E, Lildballe DL, Nielsen JEK, Zilmer M, Hammer TB, Andersen MØ, Brasch-Andersen C, Fagerberg CR, Illum NO, Thorup MB, Gregersen PA. Faergeman SL, et al. Eur J Med Genet. 2021 Sep;64(9):104280. doi: 10.1016/j.ejmg.2021.104280. Epub 2021 Jul 3. Eur J Med Genet. 2021. PMID: 34229113
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.
Khayat MM, Li H, Chander V, Hu J, Hansen AW, Li S, Traynelis J, Shen H, Weissenberger G, Stossi F, Johnson HL, Lupski JR, Posey JE, Sabo A, Meng Q, Murdock DR, Wangler M, Gibbs RA. Khayat MM, et al. Hum Mutat. 2021 May;42(5):577-591. doi: 10.1002/humu.24190. Epub 2021 Mar 6. Hum Mutat. 2021. PMID: 33644933 Free PMC article.
Rare Mutations in AHDC1 in Patients with Obstructive Sleep Apnea.
Yang S, Li K, Zhu MM, Yuan XD, Jiao XL, Yang YY, Li J, Li L, Zhang HN, Du YH, Wei YX, Qin YW. Yang S, et al. Biomed Res Int. 2019 Oct 13;2019:5907361. doi: 10.1155/2019/5907361. eCollection 2019. Biomed Res Int. 2019. PMID: 31737670 Free PMC article.
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, Yang Y, Gibbs RA. Xia F, et al. Am J Hum Genet. 2014 May 1;94(5):784-9. doi: 10.1016/j.ajhg.2014.04.006. Am J Hum Genet. 2014. PMID: 24791903 Free PMC article.