These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

196 related articles for article (PubMed ID: 34071322)

  • 1. Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients.
    Alari V; Scalmani P; Ajmone PF; Perego S; Avignone S; Catusi I; Lonati PA; Borghi MO; Finelli P; Terragni B; Mantegazza M; Russo S; Larizza L
    Int J Mol Sci; 2021 May; 22(11):. PubMed ID: 34071322
    [TBL] [Abstract][Full Text] [Related]  

  • 2. iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability.
    Alari V; Russo S; Terragni B; Ajmone PF; Sironi A; Catusi I; Calzari L; Concolino D; Marotta R; Milani D; Giardino D; Mantegazza M; Gervasini C; Finelli P; Larizza L
    Stem Cell Res; 2018 Jul; 30():130-140. PubMed ID: 29883886
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation.
    Calzari L; Barcella M; Alari V; Braga D; Muñoz-Viana R; Barlassina C; Finelli P; Gervasini C; Barco A; Russo S; Larizza L
    Mol Neurobiol; 2020 Sep; 57(9):3685-3701. PubMed ID: 32562237
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome.
    Lopez-Atalaya JP; Gervasini C; Mottadelli F; Spena S; Piccione M; Scarano G; Selicorni A; Barco A; Larizza L
    J Med Genet; 2012 Jan; 49(1):66-74. PubMed ID: 21984751
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Rubinstein-Taybi Syndrome and Epigenetic Alterations.
    Korzus E
    Adv Exp Med Biol; 2017; 978():39-62. PubMed ID: 28523540
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.
    Negri G; Milani D; Colapietro P; Forzano F; Della Monica M; Rusconi D; Consonni L; Caffi LG; Finelli P; Scarano G; Magnani C; Selicorni A; Spena S; Larizza L; Gervasini C
    Clin Genet; 2015 Feb; 87(2):148-54. PubMed ID: 24476420
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in CREBBP and EP300 genes affect DNA repair of oxidative damage in Rubinstein-Taybi syndrome cells.
    Dutto I; Scalera C; Tillhon M; Ticli G; Passaniti G; Cazzalini O; Savio M; Stivala LA; Gervasini C; Larizza L; Prosperi E
    Carcinogenesis; 2020 May; 41(3):257-266. PubMed ID: 31504229
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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
    Stem Cell Res; 2018 Jul; 30():175-179. PubMed ID: 29944992
    [TBL] [Abstract][Full Text] [Related]  

  • 9. From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.
    Negri G; Magini P; Milani D; Colapietro P; Rusconi D; Scarano E; Bonati MT; Priolo M; Crippa M; Mazzanti L; Wischmeijer A; Tamburrino F; Pippucci T; Finelli P; Larizza L; Gervasini C
    Hum Mutat; 2016 Feb; 37(2):175-83. PubMed ID: 26486927
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Insights into the Role of the Microbiota and of Short-Chain Fatty Acids in Rubinstein-Taybi Syndrome.
    Di Fede E; Ottaviano E; Grazioli P; Ceccarani C; Galeone A; Parodi C; Colombo EA; Bassanini G; Fazio G; Severgnini M; Milani D; Verduci E; Vaccari T; Massa V; Borghi E; Gervasini C
    Int J Mol Sci; 2021 Mar; 22(7):. PubMed ID: 33807238
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.
    López M; García-Oguiza A; Armstrong J; García-Cobaleda I; García-Miñaur S; Santos-Simarro F; Seidel V; Domínguez-Garrido E
    BMC Med Genet; 2018 Mar; 19(1):36. PubMed ID: 29506490
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Generation of an induced pluripotent stem cell line IGIBi18-A from an Indian patient with Rubinstein Taybi Syndrome.
    Verma S; Dalabehera S; Maurya R; Singh D; Prasher B; Pandey R; Bapat S; Ramalingam S; Sachidanandan C
    Stem Cell Res; 2024 Aug; 78():103456. PubMed ID: 38820863
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
    Fergelot P; Van Belzen M; Van Gils J; Afenjar A; Armour CM; Arveiler B; Beets L; Burglen L; Busa T; Collet M; Deforges J; de Vries BB; Dominguez Garrido E; Dorison N; Dupont J; Francannet C; Garciá-Minaúr S; Gabau Vila E; Gebre-Medhin S; Gener Querol B; Geneviève D; Gérard M; Gervasini CG; Goldenberg A; Josifova D; Lachlan K; Maas S; Maranda B; Moilanen JS; Nordgren A; Parent P; Rankin J; Reardon W; Rio M; Roume J; Shaw A; Smigiel R; Sojo A; Solomon B; Stembalska A; Stumpel C; Suarez F; Terhal P; Thomas S; Touraine R; Verloes A; Vincent-Delorme C; Wincent J; Peters DJ; Bartsch O; Larizza L; Lacombe D; Hennekam RC
    Am J Med Genet A; 2016 Dec; 170(12):3069-3082. PubMed ID: 27648933
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome in zebrafish.
    Babu A; Kamaraj M; Basu M; Mukherjee D; Kapoor S; Ranjan S; Swamy MM; Kaypee S; Scaria V; Kundu TK; Sachidanandan C
    Biochim Biophys Acta Mol Basis Dis; 2018 Apr; 1864(4 Pt A):1203-1215. PubMed ID: 29409755
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome.
    Zimmermann N; Acosta AM; Kohlhase J; Bartsch O
    Eur J Hum Genet; 2007 Aug; 15(8):837-42. PubMed ID: 17299436
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report.
    Al-Qattan MM; Jarman A; Rafique A; Al-Hassnan ZN; Al-Qattan HM
    BMC Med Genet; 2019 Jan; 20(1):12. PubMed ID: 30635043
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities.
    Lee JS; Byun CK; Kim H; Lim BC; Hwang H; Choi JE; Hwang YS; Seong MW; Park SS; Kim KJ; Chae JH
    Brain Dev; 2015 Apr; 37(4):402-8. PubMed ID: 25108505
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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
    Stem Cell Res; 2019 Oct; 40():101553. PubMed ID: 31491690
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
    Solomon BD; Bodian DL; Khromykh A; Mora GG; Lanpher BC; Iyer RK; Baveja R; Vockley JG; Niederhuber JE
    Am J Med Genet A; 2015 May; 167A(5):1111-6. PubMed ID: 25712426
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Hyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndrome.
    Wild KT; Nomakuchi TT; Sheppard SE; Leavens KF; De León DD; Zackai EH
    Am J Med Genet A; 2021 Apr; 185(4):1251-1255. PubMed ID: 33442921
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.