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Page 1
Kitcre knock-in mice fail to fate-map cardiac stem cells.
Vicinanza C, Aquila I, Cianflone E, Scalise M, Marino F, Mancuso T, Fumagalli F, Giovannone ED, Cristiano F, Iaccino E, Marotta P, Torella A, Latini R, Agosti V, Veltri P, Urbanek K, Isidori AM, Saur D, Indolfi C, Nadal-Ginard B, Torella D. Vicinanza C, et al. Among authors: torella a, torella d. Nature. 2018 Mar 21;555(7697):E1-E5. doi: 10.1038/nature25771. Nature. 2018. PMID: 29565363 No abstract available.
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.
Poggio E, Barazzuol L, Salmaso A, Milani C, Deligiannopoulou A, Cazorla ÁG, Jang SS, Juliá-Palacios N, Keren B, Kopajtich R, Lynch SA, Mignot C, Moorwood C, Neuhofer C, Nigro V, Oostra A, Prokisch H, Saillour V, Schuermans N, Torella A, Verloo P, Yazbeck E, Zollino M, Jech R, Winkelmann J, Necpal J, Calì T, Brini M, Zech M. Poggio E, et al. Among authors: torella a. Genet Med. 2023 Dec;25(12):100971. doi: 10.1016/j.gim.2023.100971. Epub 2023 Sep 4. Genet Med. 2023. PMID: 37675773
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S. Jackson A, et al. HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 37009414 Free PMC article.
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
Faqeih EA, Alghamdi MA, Almahroos MA, Alharby E, Almuntashri M, Alshangiti AM, Clément P, Calame DG, Qebibo L, Burglen L, Doco-Fenzy M, Mastrangelo M, Torella A, Manti F, Nigro V, Alban Z, Alharbi GS, Hashmi JA, Alraddadi R, Alamri R, Mitani T, Magalie B, Coban-Akdemir Z, Geckinli BB, Pehlivan D, Romito A, Karageorgou V, Martini J, Colin E, Bonneau D, Bertoli-Avella A, Lupski JR, Pastore A, Peake RWA, Dallol A, Alfadhel M, Almontashiri NAM. Faqeih EA, et al. Among authors: torella a. Genet Med. 2023 Feb;25(2):100323. doi: 10.1016/j.gim.2022.10.006. Epub 2022 Nov 19. Genet Med. 2023. PMID: 36401616 Free article.
Adult cardiac stem cells are multipotent and robustly myogenic: c-kit expression is necessary but not sufficient for their identification.
Vicinanza C, Aquila I, Scalise M, Cristiano F, Marino F, Cianflone E, Mancuso T, Marotta P, Sacco W, Lewis FC, Couch L, Shone V, Gritti G, Torella A, Smith AJ, Terracciano CM, Britti D, Veltri P, Indolfi C, Nadal-Ginard B, Ellison-Hughes GM, Torella D. Vicinanza C, et al. Among authors: torella a, torella d. Cell Death Differ. 2017 Dec;24(12):2101-2116. doi: 10.1038/cdd.2017.130. Epub 2017 Aug 11. Cell Death Differ. 2017. PMID: 28800128 Free PMC article.
In vitro CSC-derived cardiomyocytes exhibit the typical microRNA-mRNA blueprint of endogenous cardiomyocytes.
Scalise M, Marino F, Salerno L, Mancuso T, Cappetta D, Barone A, Parrotta EI, Torella A, Palumbo D, Veltri P, De Angelis A, Berrino L, Rossi F, Weisz A, Rota M, Urbanek K, Nadal-Ginard B, Torella D, Cianflone E. Scalise M, et al. Among authors: torella a, torella d. Commun Biol. 2021 Sep 30;4(1):1146. doi: 10.1038/s42003-021-02677-y. Commun Biol. 2021. PMID: 34593953 Free PMC article.
Streptozotocin-Induced Type 1 and 2 Diabetes Mellitus Mouse Models Show Different Functional, Cellular and Molecular Patterns of Diabetic Cardiomyopathy.
Marino F, Salerno N, Scalise M, Salerno L, Torella A, Molinaro C, Chiefalo A, Filardo A, Siracusa C, Panuccio G, Ferravante C, Giurato G, Rizzo F, Torella M, Donniacuo M, De Angelis A, Viglietto G, Urbanek K, Weisz A, Torella D, Cianflone E. Marino F, et al. Among authors: torella m, torella a, torella d. Int J Mol Sci. 2023 Jan 6;24(2):1132. doi: 10.3390/ijms24021132. Int J Mol Sci. 2023. PMID: 36674648 Free PMC article.
144 results