De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome - PubMed (original) (raw)

• Additional Sex Combs-like Family Associated with Epigenetic Regulation.
  Kim N, Byun S, Um SJ. Kim N, et al. Int J Mol Sci. 2024 May 8;25(10):5119. doi: 10.3390/ijms25105119. Int J Mol Sci. 2024. PMID: 38791157 Free PMC article. Review.
• An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty.
  Arai Y, Okanishi T, Okazaki T, Awano H, Seyama R, Uchiyama Y, Matsumoto N, Tamasaki A, Maegaki Y. Arai Y, et al. BMC Pediatr. 2024 May 6;24(1):308. doi: 10.1186/s12887-024-04774-3. BMC Pediatr. 2024. PMID: 38711055 Free PMC article.
• Human ASXL1-Mutant Hematopoiesis Is Driven by a Truncated Protein Associated with Aberrant Deubiquitination of H2AK119.
  Köhnke T, Nuno KA, Alder CC, Gars EJ, Phan P, Fan AC, Majeti R. Köhnke T, et al. Blood Cancer Discov. 2024 May 1;5(3):202-223. doi: 10.1158/2643-3230.BCD-23-0235. Blood Cancer Discov. 2024. PMID: 38359087
• Examining the neurodevelopmental and motor phenotypes of Bohring-Opitz syndrome (ASXL1) and Bainbridge-Ropers syndrome (ASXL3).
  Ayoub MC, Anderson JT, Russell BE, Wilson RB. Ayoub MC, et al. Front Neurosci. 2023 Nov 6;17:1244176. doi: 10.3389/fnins.2023.1244176. eCollection 2023. Front Neurosci. 2023. PMID: 38027485 Free PMC article.
• The genomic landscape of familial glioma.
  Choi DJ, Armstrong G, Lozzi B, Vijayaraghavan P, Plon SE, Wong TC, Boerwinkle E, Muzny DM, Chen HC, Gibbs RA, Ostrom QT, Melin B, Deneen B, Bondy ML; Gliogene Consortium; Genomics England Research Consortium; Bainbridge MN, Amos CI, Barnholtz-Sloan JS, Bernstein JL, Claus EB, Houlston RS, Il'yasova D, Jenkins RB, Johansen C, Lachance D, Lai R, Melin BS, Merrell RT, Olson SH, Sadetzki S, Schildkraut J, Shete S, Ambrose JC, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Brown MA, Caulfield MJ, Chan GC, Giess A, Griffin JN, Hamblin A, Henderson S, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Lakey A, Leigh SEA, Leong IUS, Lopez FJ, Maleady-Crowe F, McEntagart M, Minneci F, Mitchell J, Moutsianas L, Mueller M, Murugaesu N, Need AC, O'Donovan P, Odhams CA, Patch C, Perez-Gil D, Pereira MB, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott RH, Siddiq A, Sieghart A, Smith SC, Sosinsky A, Stuckey A, Tanguy M, Taylor Tavares AL, Thomas ERA, Thompson SR, Tucci A, Welland MJ, Williams E, Witkowska K, Wood SM, Zarowiecki M. Choi DJ, et al. Sci Adv. 2023 Apr 28;9(17):eade2675. doi: 10.1126/sciadv.ade2675. Epub 2023 Apr 28. Sci Adv. 2023. PMID: 37115922 Free PMC article.