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The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation.

Pignani S, Todaro A, Ferrarese M, Marchi S, Lombardi S, Balestra D, Pinton P, Bernardi F, Pinotti M, Branchini A.

J Thromb Haemost. 2018 Jul 11. doi: 10.1111/jth.14236. [Epub ahead of print]


Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.

Donadon I, Pinotti M, Rajkowska K, Pianigiani G, Barbon E, Morini E, Motaln H, Rogelj B, Mingozzi F, Slaugenhaupt SA, Pagani F.

Hum Mol Genet. 2018 Jul 15;27(14):2466-2476. doi: 10.1093/hmg/ddy151.


Activation of Endoplasmic Reticulum Stress and Unfolded Protein Response in Congenital Factor VII Deficiency.

Andersen E, Chollet ME, Myklebust CF, Pinotti M, Bernardi F, Chuansumrit A, Skarpen E, Sandset PM, Skretting G.

Thromb Haemost. 2018 Apr;118(4):664-675. doi: 10.1055/s-0038-1637690. Epub 2018 Apr 4.


Community-acquired methicillin-resistant Staphylococcus aureus infections: 10-years' experience in a children's hospital in the city of Rosario, Argentina.

Ensinck G, Ernst A, Lazarte G, Romagnoli A, Sguassero Y, Míguez N, López Papucci S, Aletti A, Chiossone A, Pigozzi F, Pinotti M, Cantador A.

Arch Argent Pediatr. 2018 Apr 1;116(2):119-125. doi: 10.5546/aap.2018.eng.119. English, Spanish.


The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction.

Scalet D, Sacchetto C, Bernardi F, Pinotti M, van de Graaf SFJ, Balestra D.

J Hum Genet. 2018 May;63(5):683-686. doi: 10.1038/s10038-018-0427-x. Epub 2018 Mar 1.


Influence of light transmission through fiber posts: Quantitative analysis, microhardness, and on bond strength of a resin cement.

Alves Morgan LFDS, Pinotti MB, Ferreira FM, Gomes GM, Silva GC, Albuquerque RC, Moreira AN.

Indian J Dent Res. 2018 Jan-Feb;29(1):74-80. doi: 10.4103/ijdr.IJDR_792_16.


Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B.

Ferrarese M, Testa MF, Balestra D, Bernardi F, Pinotti M, Branchini A.

Hum Mutat. 2018 May;39(5):702-708. doi: 10.1002/humu.23404. Epub 2018 Feb 17.


Factor VII deficiency: Unveiling the cellular and molecular mechanisms underlying three model alterations of the enzyme catalytic domain.

Chollet ME, Andersen E, Skarpen E, Myklebust CF, Koehler C, Morth JP, Chuansumrit A, Pinotti M, Bernardi F, Thiede B, Sandset PM, Skretting G.

Biochim Biophys Acta. 2018 Mar;1864(3):660-667. doi: 10.1016/j.bbadis.2017.12.016. Epub 2017 Dec 12.


Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity.

Donadon I, McVey JH, Garagiola I, Branchini A, Mortarino M, Peyvandi F, Bernardi F, Pinotti M.

Haematologica. 2018 Feb;103(2):344-350. doi: 10.3324/haematol.2017.178327. Epub 2017 Nov 23.


Treatment of a Large Traumatic Encephalocele with Titanium Mesh.

Canto AMD, Pinotti MM, Maciel FA, Todeschini AB, Aguiar GB, Freitas RR.

Craniomaxillofac Trauma Reconstr. 2017 Jun;10(2):145-150. doi: 10.1055/s-0036-1582452. Epub 2016 May 5.


Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations.

Branchini A, Ferrarese M, Campioni M, Castaman G, Mari R, Bernardi F, Pinotti M.

Blood. 2017 Apr 20;129(16):2303-2307. doi: 10.1182/blood-2016-09-738641. Epub 2017 Feb 14.


Quantification and Analysis of Leaflet Flutter on Biological Prosthetic Cardiac Valves.

Avelar AHF, Canestri JA, Bim C, Silva MGM, Huebner R, Pinotti M.

Artif Organs. 2017 Sep;41(9):835-844. doi: 10.1111/aor.12856. Epub 2016 Dec 7.


Transposon-mediated Generation of Cellular and Mouse Models of Splicing Mutations to Assess the Efficacy of snRNA-based Therapeutics.

Barbon E, Ferrarese M, van Wittenberghe L, Sanatine P, Ronzitti G, Collaud F, Colella P, Pinotti M, Mingozzi F.

Mol Ther Nucleic Acids. 2016 Nov 29;5(11):e392. doi: 10.1038/mtna.2016.97.


Differential functional readthrough over homozygous nonsense mutations contributes to the bleeding phenotype in coagulation factor VII deficiency.

Branchini A, Ferrarese M, Lombardi S, Mari R, Bernardi F, Pinotti M.

J Thromb Haemost. 2016 Oct;14(10):1994-2000. doi: 10.1111/jth.13443. Epub 2016 Sep 19.


An Exon-Specific U1snRNA Induces a Robust Factor IX Activity in Mice Expressing Multiple Human FIX Splicing Mutants.

Balestra D, Scalet D, Pagani F, Rogalska ME, Mari R, Bernardi F, Pinotti M.

Mol Ther Nucleic Acids. 2016 Oct 4;5(10):e370. doi: 10.1038/mtna.2016.77.


Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy.

Scalet D, Balestra D, Rohban S, Bovolenta M, Perrone D, Bernardi F, Campaner S, Pinotti M.

Biochim Biophys Acta. 2017 Jan;1863(1):15-20. doi: 10.1016/j.bbadis.2016.09.011. Epub 2016 Sep 14.


Fo ATP synthase C subunit serum levels in patients with ST-segment Elevation Myocardial Infarction: Preliminary findings.

Campo G, Morciano G, Pavasini R, Bonora M, Sbano L, Biscaglia S, Bovolenta M, Pinotti M, Punzetti S, Rizzo P, Aquila G, Giorgi C, Ferrari R, Pinton P.

Int J Cardiol. 2016 Oct 15;221:993-7. doi: 10.1016/j.ijcard.2016.07.125. Epub 2016 Jul 9.


An engineered tale-transcription factor rescues transcription of factor VII impaired by promoter mutations and enhances its endogenous expression in hepatocytes.

Barbon E, Pignani S, Branchini A, Bernardi F, Pinotti M, Bovolenta M.

Sci Rep. 2016 Jun 24;6:28304. doi: 10.1038/srep28304.


Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function.

Tajnik M, Rogalska ME, Bussani E, Barbon E, Balestra D, Pinotti M, Pagani F.

PLoS Genet. 2016 May 26;12(5):e1006082. doi: 10.1371/journal.pgen.1006082. eCollection 2016 May.


Motivational Interviewing to Treat Overweight Children: 24-Month Follow-Up of a Randomized Controlled Trial.

Broccoli S, Davoli AM, Bonvicini L, Fabbri A, Ferrari E, Montagna G, Panza C, Pinotti M, Storani S, Tamelli M, Candela S, Bellocchio E, Giorgi Rossi P.

Pediatrics. 2016 Jan;137(1). doi: 10.1542/peds.2015-1979. Epub 2015 Dec 23.


Sodium alginate as a potential carrier in solid dispersion formulations to enhance dissolution rate and apparent water solubility of BCS II drugs.

Borba PAA, Pinotti M, de Campos CEM, Pezzini BR, Stulzer HK.

Carbohydr Polym. 2016 Feb 10;137:350-359. doi: 10.1016/j.carbpol.2015.10.070. Epub 2015 Oct 23.


Mcl-1 involvement in mitochondrial dynamics is associated with apoptotic cell death.

Morciano G, Giorgi C, Balestra D, Marchi S, Perrone D, Pinotti M, Pinton P.

Mol Biol Cell. 2016 Jan 1;27(1):20-34. doi: 10.1091/mbc.E15-01-0028. Epub 2015 Nov 4.


The effect of mechanical grinding on the formation, crystalline changes and dissolution behaviour of the inclusion complex of telmisartan and β-cyclodextrins.

Borba PA, Pinotti M, Andrade GR, da Costa NB Jr, Olchanheski Junior LR, Fernandes D, de Campos CE, Stulzer HK.

Carbohydr Polym. 2015 Nov 20;133:373-83. doi: 10.1016/j.carbpol.2015.06.098. Epub 2015 Jul 9.


Myocardial contractility impairment with racemic bupivacaine, non-racemic bupivacaine and ropivacaine. A comparative study.

Pinotti MF, Hepner A, Campos DH, Silva LM, Cicogna AC, Ganem EM.

Acta Cir Bras. 2015 Jul;30(7):484-90. doi: 10.1590/S0102-865020150070000006.


The carboxyl-terminal region is NOT essential for secreted and functional levels of coagulation factor X.

Branchini A, Baroni M, Burini F, Puzzo F, Nicolosi F, Mari R, Gemmati D, Bernardi F, Pinotti M.

J Thromb Haemost. 2015 Aug;13(8):1468-74. doi: 10.1111/jth.13034. Epub 2015 Jul 14.


Regulation of a strong F9 cryptic 5'ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides.

Balestra D, Barbon E, Scalet D, Cavallari N, Perrone D, Zanibellato S, Bernardi F, Pinotti M.

Hum Mol Genet. 2015 Sep 1;24(17):4809-16. doi: 10.1093/hmg/ddv205. Epub 2015 Jun 10.


Asymmetric processing of mutant factor X Arg386Cys reveals differences between intrinsic and extrinsic pathway activation.

Baroni M, Pavani G, Pinotti M, Branchini A, Bernardi F, Camire RM.

Biochim Biophys Acta. 2015 Oct;1854(10 Pt A):1351-6. doi: 10.1016/j.bbapap.2015.05.012. Epub 2015 May 23.


Factor XIII-A dynamics in acute myocardial infarction: a novel prognostic biomarker?

Gemmati D, Zeri G, Orioli E, Mari R, Moratelli S, Vigliano M, Marchesini J, Grossi ME, Pecoraro A, Cuneo A, Ferrari R, Pinotti M, Serino ML, Ansani L.

Thromb Haemost. 2015 Jul;114(1):123-32. doi: 10.1160/TH14-11-0952. Epub 2015 May 7.


Melanin protects Paracoccidioides brasiliensis from the effects of antimicrobial photodynamic inhibition and antifungal drugs.

Baltazar LM, Werneck SM, Soares BM, Ferreira MV, Souza DG, Pinotti M, Santos DA, Cisalpino PS.

Antimicrob Agents Chemother. 2015 Jul;59(7):4003-11. doi: 10.1128/AAC.04917-14. Epub 2015 Apr 20.


Photodynamic therapy efficiently controls dermatophytosis caused by Trichophyton rubrum in a murine model.

Baltazar LM, Werneck SM, Carneiro HC, Gouveia LF, de Paula TP, Byrro RM, Cunha Júnior AS, Soares BM, Ferreira MV, Souza DG, Pinotti M, Cisalpino PS, Santos DA.

Br J Dermatol. 2015 Mar;172(3):801-4. doi: 10.1111/bjd.13494. Epub 2015 Feb 8. No abstract available.


Coagulation factor VII variants resistant to inhibitory antibodies.

Branchini A, Baroni M, Pfeiffer C, Batorova A, Giansily-Blaizot M, Schved JF, Mariani G, Bernardi F, Pinotti M.

Thromb Haemost. 2014 Nov;112(5):972-80. doi: 10.1160/TH14-03-0198. Epub 2014 Aug 7.


Effects of low-power light therapy on wound healing: LASER x LED.

Chaves ME, Araújo AR, Piancastelli AC, Pinotti M.

An Bras Dermatol. 2014 Jul-Aug;89(4):616-23. Review.


Pharmacokinetic properties of recombinant FVIIa in inherited FVII deficiency account for a large volume of distribution at steady state and a prolonged pharmacodynamic effect.

Morfini M, Batorova A, Mariani G, Auerswald G, Bernardi F, Di Minno G, Dolce A, Fede C, Giansily-Blaizot M, Ingerslev J, Martinowitz U, Napolitano M, Pinotti M, Schved JF; International FVII [IF7] and Seven Treatment Evaluation Registry [STER] Study Groups.

Thromb Haemost. 2014 Aug;112(2):424-5. doi: 10.1160/TH13-12-1045. Epub 2014 Apr 24. No abstract available.


An engineered U1 small nuclear RNA rescues splicing defective coagulation F7 gene expression in mice.

Balestra D, Faella A, Margaritis P, Cavallari N, Pagani F, Bernardi F, Arruda VR, Pinotti M.

J Thromb Haemost. 2014 Feb;12(2):177-85. doi: 10.1111/jth.12471.


The influence of dynamic orthosis training on upper extremity function after stroke: a pilot study.

de Araújo RC, Rocha DN, Pitangui AC, Pinotti M.

J Healthc Eng. 2014;5(1):55-66. doi: 10.1260/2040-2295.5.1.55.


Inhibitors to factor VII in congenital factor VII deficiency.

Batorova A, Mariani G, Kavakli K, de Saez AR, Caliskan U, Karimi M, Pinotti M, Napolitano M, Dolce A, Sørensen B, Ingerslev J; STER Study Group.

Haemophilia. 2014 Mar;20(2):e188-91. doi: 10.1111/hae.12376. No abstract available.


A computational model for dynamic analysis of the human gait.

Vimieiro C, Andrada E, Witte H, Pinotti M.

Comput Methods Biomech Biomed Engin. 2015;18(7):799-804. doi: 10.1080/10255842.2013.848859. Epub 2013 Oct 25.


Pediatrician-led motivational interviewing to treat overweight children: an RCT.

Davoli AM, Broccoli S, Bonvicini L, Fabbri A, Ferrari E, D'Angelo S, Di Buono A, Montagna G, Panza C, Pinotti M, Romani G, Storani S, Tamelli M, Candela S, Giorgi Rossi P.

Pediatrics. 2013 Nov;132(5):e1236-46. doi: 10.1542/peds.2013-1738. Epub 2013 Oct 21.


Cationic lipid nanosystems as carriers for nucleic acids.

Cortesi R, Campioni M, Ravani L, Drechsler M, Pinotti M, Esposito E.

N Biotechnol. 2014 Jan 25;31(1):44-54. doi: 10.1016/j.nbt.2013.10.001. Epub 2013 Oct 11.


Replacement of the Y450 (c234) phenyl ring in the carboxyl-terminal region of coagulation factor IX causes pleiotropic effects on secretion and enzyme activity.

Branchini A, Campioni M, Mazzucconi MG, Biondo F, Mari R, Bicocchi MP, Bernardi F, Pinotti M.

FEBS Lett. 2013 Oct 1;587(19):3249-53. doi: 10.1016/j.febslet.2013.08.019. Epub 2013 Aug 27.


Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R.

Savoldi G, Izzi C, Signorelli M, Bondioni MP, Romani C, Lanzi G, Moratto D, Verdoni L, Pinotti M, Prefumo F, Superti-Furga A, Pilotta A.

Am J Med Genet A. 2013 Oct;161A(10):2614-9. doi: 10.1002/ajmg.a.36115. Epub 2013 Aug 15.


Photodynamic inhibition of Trichophyton rubrum: in vitro activity and the role of oxidative and nitrosative bursts in fungal death.

Baltazar Lde M, Soares BM, Carneiro HC, Avila TV, Gouveia LF, Souza DG, Ferreira MV, Pinotti M, Santos Dde A, Cisalpino PS.

J Antimicrob Chemother. 2013 Feb;68(2):354-61. doi: 10.1093/jac/dks414. Epub 2012 Nov 7.


Management of kidney transplantation in a factor VII-deficient patient: case report.

Lapecorella M, Napolitano M, Lucchesi A, Pisani F, Clemente K, Rizza V, Famulari A, Aloisio L, Bernardi F, Pinotti M, Ferraresi P, Di Cocco P.

Transplant Proc. 2012 Sep;44(7):2033-5. doi: 10.1016/j.transproceed.2012.07.001.


Ribosome readthrough accounts for secreted full-length factor IX in hemophilia B patients with nonsense mutations.

Pinotti M, Caruso P, Canella A, Campioni M, Tagariello G, Castaman G, Giacomelli S, Belvini D, Bernardi F.

Hum Mutat. 2012 Sep;33(9):1373-6. doi: 10.1002/humu.22120. Epub 2012 Jun 11.


Phototoxic action of light emitting diode in the in vitro viability of Trichophyton rubrum.

Amorim JC, Soares BM, Alves OA, Ferreira MV, Sousa GR, Silveira Lde B, Piancastelli AC, Pinotti M.

An Bras Dermatol. 2012 Mar-Apr;87(2):250-5.


Long-chain cationic derivatives of PTA (1,3,5-triaza-7-phosphaadamantane) as new components of potential non-viral vectors.

Cortesi R, Bergamini P, Ravani L, Drechsler M, Costenaro A, Pinotti M, Campioni M, Marvelli L, Esposito E.

Int J Pharm. 2012 Jul 15;431(1-2):176-82. doi: 10.1016/j.ijpharm.2012.04.014. Epub 2012 Apr 15.


Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant.

Cavallari N, Balestra D, Branchini A, Maestri I, Chuamsunrit A, Sasanakul W, Mariani G, Pagani F, Bernardi F, Pinotti M.

Biochim Biophys Acta. 2012 Jul;1822(7):1109-13. doi: 10.1016/j.bbadis.2012.03.001. Epub 2012 Mar 9.


An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects.

Fernandez Alanis E, Pinotti M, Dal Mas A, Balestra D, Cavallari N, Rogalska ME, Bernardi F, Pagani F.

Hum Mol Genet. 2012 Jun 1;21(11):2389-98. doi: 10.1093/hmg/dds045. Epub 2012 Feb 23.


Lower levels of oxidative DNA damage and apoptosis in lymphocytes from patients undergoing surgery with propofol anesthesia.

Braz MG, Braz LG, Mazoti MA, Pinotti MF, Pardini MI, Braz JR, Salvadori DM.

Environ Mol Mutagen. 2012 Jan;53(1):70-7.


Promoter methylation in coagulation F7 gene influences plasma FVII concentrations and relates to coronary artery disease.

Friso S, Lotto V, Choi SW, Girelli D, Pinotti M, Guarini P, Udali S, Pattini P, Pizzolo F, Martinelli N, Corrocher R, Bernardi F, Olivieri O.

J Med Genet. 2012 Mar;49(3):192-9. doi: 10.1136/jmedgenet-2011-100195. Epub 2012 Feb 7.


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