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Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*).
Alari V, Russo S, Rovina D, Gowran A, Garzo M, Crippa M, Mazzanti L, Scalera C, Prosperi E, Giardino D, Gervasini C, Finelli P, Pompilio G, Larizza L. Alari V, et al. Among authors: gowran a. Stem Cell Res. 2018 Jul;30:175-179. doi: 10.1016/j.scr.2018.06.009. Epub 2018 Jun 18. Stem Cell Res. 2018. PMID: 29944992 Free article.
Derivation of the Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line lacking DMD exons 49 and 50 (CCMi001DMD-A-3, ∆49, ∆50).
Spaltro G, Vigorelli V, Casalnuovo F, Spinelli P, Castiglioni E, Rovina D, Paganini S, Di Segni M, Nigro P, Gervasini C, Pompilio G, Gowran A. Spaltro G, et al. Among authors: gowran a. Stem Cell Res. 2017 Dec;25:128-131. doi: 10.1016/j.scr.2017.10.018. Epub 2017 Oct 28. Stem Cell Res. 2017. PMID: 29127875 Free article.
Generation of induced pluripotent stem cells from a Becker muscular dystrophy patient carrying a deletion of exons 45-55 of the dystrophin gene (CCMi002BMD-A-9 ∆45-55).
Gowran A, Spaltro G, Casalnuovo F, Vigorelli V, Spinelli P, Castiglioni E, Rovina D, Paganini S, Di Segni M, Gervasini C, Nigro P, Pompilio G. Gowran A, et al. Stem Cell Res. 2018 Apr;28:21-24. doi: 10.1016/j.scr.2018.01.025. Epub 2018 Feb 2. Stem Cell Res. 2018. PMID: 29414413 Free article.
Establishment of a Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line carrying a deletion of exons 51-53 of the dystrophin gene (CCMi003-A).
Rovina D, Castiglioni E, Farini A, Bellichi M, Gervasini C, Paganini S, Di Segni M, Santoro R, Torrente Y, Pompilio G, Gowran A. Rovina D, et al. Among authors: gowran a. Stem Cell Res. 2019 Oct;40:101544. doi: 10.1016/j.scr.2019.101544. Epub 2019 Aug 20. Stem Cell Res. 2019. PMID: 31465894 Free article.
Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense c.4627G>T, p.(Asp1543Tyr) mutations.
Alari V, Russo S, Rovina D, Garzo M, Crippa M, Calzari L, Scalera C, Concolino D, Castiglioni E, Giardino D, Prosperi E, Finelli P, Gervasini C, Gowran A, Larizza L. Alari V, et al. Among authors: gowran a. Stem Cell Res. 2019 Oct;40:101553. doi: 10.1016/j.scr.2019.101553. Epub 2019 Aug 28. Stem Cell Res. 2019. PMID: 31491690 Free article.
Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8 T>C.
Rovina D, Castiglioni E, Niro F, Farini A, Belicchi M, Di Fede E, Gervasini C, Paganini S, Di Segni M, Torrente Y, Santoro R, Pompilio G, Gowran A. Rovina D, et al. Among authors: gowran a. Stem Cell Res. 2020 May;45:101819. doi: 10.1016/j.scr.2020.101819. Epub 2020 Apr 22. Stem Cell Res. 2020. PMID: 32348941 Free PMC article.
Reprogramming of dermal fibroblasts from a Duchenne muscular dystrophy patient carrying a deletion of exons 45-50 into an induced pluripotent stem cell line (CCMi005-A).
Rovina D, Castiglioni E, Mallia S, Rabino M, Farini A, Belicchi M, Di Giuseppe G, Gervasini C, Torrente Y, Pompilio G, Gowran A. Rovina D, et al. Among authors: gowran a. Stem Cell Res. 2022 Oct;64:102889. doi: 10.1016/j.scr.2022.102889. Epub 2022 Aug 5. Stem Cell Res. 2022. PMID: 35961103 Free article.
Fibrosis Rescue Improves Cardiac Function in Dystrophin-Deficient Mice and Duchenne Patient-Specific Cardiomyocytes by Immunoproteasome Modulation.
Farini A, Gowran A, Bella P, Sitzia C, Scopece A, Castiglioni E, Rovina D, Nigro P, Villa C, Fortunato F, Comi GP, Milano G, Pompilio G, Torrente Y. Farini A, et al. Among authors: gowran a. Am J Pathol. 2019 Feb;189(2):339-353. doi: 10.1016/j.ajpath.2018.10.010. Epub 2018 Nov 16. Am J Pathol. 2019. PMID: 30448404 Free article.
36 results