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A preliminary comparative analysis of primate segmental duplications shows elevated substitution rates and a great-ape expansion of intrachromosomal duplications.
She X, Liu G, Ventura M, Zhao S, Misceo D, Roberto R, Cardone MF, Rocchi M; NISC Comparative Sequencing Program; Green ED, Archidiacano N, Eichler EE. She X, et al. Among authors: misceo d. Genome Res. 2006 May;16(5):576-83. doi: 10.1101/gr.4949406. Epub 2006 Apr 10. Genome Res. 2006. PMID: 16606706 Free PMC article.
A single amino acid deletion in the ER Ca2+ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome-causing R304W mutation.
Gamage TH, Grabmayr H, Horvath F, Fahrner M, Misceo D, Louch WE, Gunnes G, Pullisaar H, Reseland JE, Lyngstadaas SP, Holmgren A, Amundsen SS, Rathner P, Cerofolini L, Ravera E, Krobath H, Luchinat C, Renger T, Müller N, Romanin C, Frengen E. Gamage TH, et al. Among authors: misceo d. Sci Signal. 2023 Feb 7;16(771):eadd0509. doi: 10.1126/scisignal.add0509. Epub 2023 Feb 7. Sci Signal. 2023. PMID: 36749824
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Saida K, Maroofian R, Sengoku T, Mitani T, Pagnamenta AT, Marafi D, Zaki MS, O'Brien TJ, Karimiani EG, Kaiyrzhanov R, Takizawa M, Ohori S, Leong HY, Akay G, Galehdari H, Zamani M, Romy R, Carroll CJ, Toosi MB, Ashrafzadeh F, Imannezhad S, Malek H, Ahangari N, Tomoum H, Gowda VK, Srinivasan VM, Murphy D, Dominik N, Elbendary HM, Rafat K, Yilmaz S, Kanmaz S, Serin M, Krishnakumar D, Gardham A, Maw A, Rao TS, Alsubhi S, Srour M, Buhas D, Jewett T, Goldberg RE, Shamseldin H, Frengen E, Misceo D, Strømme P, Magliocco Ceroni JR, Kim CA, Yesil G, Sengenc E, Guler S, Hull M, Parnes M, Aktas D, Anlar B, Bayram Y, Pehlivan D, Posey JE, Alavi S, Madani Manshadi SA, Alzaidan H, Al-Owain M, Alabdi L, Abdulwahab F, Sekiguchi F, Hamanaka K, Fujita A, Uchiyama Y, Mizuguchi T, Miyatake S, Miyake N, Elshafie RM, Salayev K, Guliyeva U, Alkuraya FS, Gleeson JG, Monaghan KG, Langley KG, Yang H, Motavaf M, Safari S, Alipour M, Ogata K, Brown AEX, Lupski JR, Houlden H, Matsumoto N. Saida K, et al. Among authors: misceo d. Genet Med. 2023 Jan;25(1):90-102. doi: 10.1016/j.gim.2022.09.010. Epub 2022 Oct 31. Genet Med. 2023. PMID: 36318270 Free article.
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly.
Ghaffar A, Akhter T, Strømme P, Misceo D, Khan A, Frengen E, Umair M, Isidor B, Cogné B, Khan AA, Bruel AL, Sorlin A, Kuentz P, Chiaverini C, Innes AM, Zech M, Baláž M, Havrankova P, Jech R, Ahmed ZM, Riazuddin S, Riazuddin S. Ghaffar A, et al. Among authors: misceo d. Commun Biol. 2024 Jul 8;7(1):831. doi: 10.1038/s42003-024-06466-1. Commun Biol. 2024. PMID: 38977784 Free PMC article.
Using a pericentromeric interspersed repeat to recapitulate the phylogeny and expansion of human centromeric segmental duplications.
Horvath JE, Gulden CL, Bailey JA, Yohn C, McPherson JD, Prescott A, Roe BA, de Jong PJ, Ventura M, Misceo D, Archidiacono N, Zhao S, Schwartz S, Rocchi M, Eichler EE. Horvath JE, et al. Among authors: misceo d. Mol Biol Evol. 2003 Sep;20(9):1463-79. doi: 10.1093/molbev/msg158. Epub 2003 May 30. Mol Biol Evol. 2003. PMID: 12777517
66 results