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Modeling riboflavin transporter deficiency type 2: from iPSC-derived motoneurons to iPSC-derived astrocytes.
Magliocca V, Lanciotti A, Ambrosini E, Travaglini L, D'Ezio V, D'Oria V, Petrini S, Catteruccia M, Massey K, Tartaglia M, Bertini E, Persichini T, Compagnucci C. Magliocca V, et al. Among authors: tartaglia m. Front Cell Neurosci. 2024 Jul 24;18:1440555. doi: 10.3389/fncel.2024.1440555. eCollection 2024. Front Cell Neurosci. 2024. PMID: 39113759 Free PMC article.
Malignant peripheral nerve sheath tumor (MPNST) and MPNST-like entities are defined by a specific DNA methylation profile in pediatric and juvenile population.
Patrizi S, Miele E, Falcone L, Vallese S, Rossi S, Barresi S, Giovannoni I, Pedace L, Nardini C, Masier I, Abballe L, Cacchione A, Russo I, Di Giannatale A, Di Ruscio V, Salgado CM, Mastronuzzi A, Ciolfi A, Tartaglia M, Milano GM, Locatelli F, Alaggio R. Patrizi S, et al. Among authors: tartaglia m. Clin Epigenetics. 2024 Jan 4;16(1):9. doi: 10.1186/s13148-023-01621-7. Clin Epigenetics. 2024. PMID: 38178234 Free PMC article.
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Tepe B, Macke EL, Niceta M, Weisz Hubshman M, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer GB, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Le Guillou X, Wagner EJ, Pais LS, Neil JE, Mochida GH, Walsh CA, Magal N, Drasinover V, Shohat M, Schwab T, Schmitz C, Clark K, Fine A, Lanpher B, Gavrilova R, Blanc P, Burglen L, Afenjar A, Steel D, Kurian MA, Prabhakar P, Gößwein S, Di Donato N, Bertini ES; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Tartaglia M, Klee EW, Bellen HJ. Tepe B, et al. Among authors: tartaglia m. Am J Hum Genet. 2023 May 4;110(5):774-789. doi: 10.1016/j.ajhg.2023.03.012. Epub 2023 Apr 12. Am J Hum Genet. 2023. PMID: 37054711 Free PMC article.
Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment.
Nurchis MC, Altamura G, Riccardi MT, Radio FC, Chillemi G, Bertini ES, Garlasco J, Tartaglia M, Dallapiccola B, Damiani G. Nurchis MC, et al. Among authors: tartaglia m. Arch Public Health. 2023 May 25;81(1):93. doi: 10.1186/s13690-023-01112-4. Arch Public Health. 2023. PMID: 37231492 Free PMC article.
Reversing vemurafenib-resistance in primary melanoma cells by combined romidepsin and type I IFN treatment through blocking of tumorigenic signals and induction of immunogenic effects.
Fragale A, Stellacci E, Romagnoli G, Licursi V, Parlato S, Canini I, Remedi G, Buoncervello M, Matarrese P, Pedace L, Ascione B, Pizzi S, Tartaglia M, D'Atri S, Presutti C, Capone I, Gabriele L. Fragale A, et al. Among authors: tartaglia m. Int J Cancer. 2023 Sep 1;153(5):1080-1095. doi: 10.1002/ijc.34602. Epub 2023 Jun 9. Int J Cancer. 2023. PMID: 37293858
Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation.
Zuntini R, Cattani C, Pedace L, Miele E, Caraffi SG, Gardini S, Ficarelli E, Pizzi S, Radio FC, Barone A, Piana S, Bertolini P, Corradi D, Marinelli M, Longo C, Motolese A, Zuffardi O, Tartaglia M, Garavelli L. Zuntini R, et al. Among authors: tartaglia m. Front Genet. 2023 Aug 10;14:1231434. doi: 10.3389/fgene.2023.1231434. eCollection 2023. Front Genet. 2023. PMID: 37636262 Free PMC article.
898 results