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Items: 1 to 50 of 53

1.

C6orf10 Low-Frequency and Rare Variants in Italian Multiple Sclerosis Patients.

Ziliotto N, Marchetti G, Scapoli C, Bovolenta M, Meneghetti S, Benazzo A, Lunghi B, Balestra D, Laino LA, Bozzini N, Guidi I, Salvi F, Straudi S, Gemmati D, Menegatti E, Zamboni P, Bernardi F.

Front Genet. 2019 Jun 26;10:573. doi: 10.3389/fgene.2019.00573. eCollection 2019.

2.

Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency.

Ferraresi P, Balestra D, Guittard C, Buthiau D, Pan-Petesh B, Maestri I, Farah R, Pinotti M, Giansily-Blaizot M.

Haematologica. 2019 Jul 4. pii: haematol.2019.217539. doi: 10.3324/haematol.2019.217539. [Epub ahead of print]

3.

Molecular Mechanisms and Determinants of Innovative Correction Approaches in Coagulation Factor Deficiencies.

Balestra D, Branchini A.

Int J Mol Sci. 2019 Jun 21;20(12). pii: E3036. doi: 10.3390/ijms20123036. Review.

4.

The carboxyl-terminal region of human coagulation factor X as a natural linker for fusion strategies.

Ferrarese M, Pignani S, Lombardi S, Balestra D, Bernardi F, Pinotti M, Branchini A.

Thromb Res. 2019 Jan;173:4-11. doi: 10.1016/j.thromres.2018.11.007. Epub 2018 Nov 9.

PMID:
30453126
5.

Disease-causing variants of the conserved +2T of 5' splice sites can be rescued by engineered U1snRNAs.

Scalet D, Maestri I, Branchini A, Bernardi F, Pinotti M, Balestra D.

Hum Mutat. 2019 Jan;40(1):48-52. doi: 10.1002/humu.23680. Epub 2018 Nov 19.

PMID:
30408273
6.

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 Oct;16(10):2035-2043. doi: 10.1111/jth.14236. Epub 2018 Aug 9.

PMID:
29993188
7.

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.

8.

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.

PMID:
29388273
9.

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.

10.

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 Mol Basis Dis. 2017 Jan;1863(1):15-20. doi: 10.1016/j.bbadis.2016.09.011. Epub 2016 Sep 14.

11.

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.

12.

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.

13.

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.

14.

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.

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.

16.

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.

17.

Potential role of iron in a Mediterranean-style diet.

Dwyer BE, Zacharski LR, Balestra DJ, Lerner AJ, Perry G, Zhu X, Smith MA.

Arch Neurol. 2010 Oct;67(10):1286-7; author reply 1287-8. doi: 10.1001/archneurol.2010.245. No abstract available.

PMID:
20937965
18.

Adjusting for inflation and higher surgery costs in a cost-effectiveness study of spinal surgery.

Balestra DJ.

Ann Intern Med. 2009 May 5;150(9):652; author reply 652-3. No abstract available.

PMID:
19414848
19.

Rescue of coagulation factor VII function by the U1+5A snRNA.

Pinotti M, Balestra D, Rizzotto L, Maestri I, Pagani F, Bernardi F.

Blood. 2009 Jun 18;113(25):6461-4. doi: 10.1182/blood-2009-03-207613. Epub 2009 Apr 22.

20.

Getting the iron out: phlebotomy for Alzheimer's disease?

Dwyer BE, Zacharski LR, Balestra DJ, Lerner AJ, Perry G, Zhu X, Smith MA.

Med Hypotheses. 2009 May;72(5):504-9. doi: 10.1016/j.mehy.2008.12.029. Epub 2009 Feb 4.

21.

Quantitative and qualitative characterization of plasma DNA identifies primary and recurrent colorectal cancer.

Frattini M, Gallino G, Signoroni S, Balestra D, Lusa L, Battaglia L, Sozzi G, Bertario L, Leo E, Pilotti S, Pierotti MA.

Cancer Lett. 2008 May 18;263(2):170-81. doi: 10.1016/j.canlet.2008.03.021.

PMID:
18395974
22.

U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency.

Pinotti M, Rizzotto L, Balestra D, Lewandowska MA, Cavallari N, Marchetti G, Bernardi F, Pagani F.

Blood. 2008 Mar 1;111(5):2681-4. Epub 2007 Dec 21.

23.

Effect of an oral iron chelator or iron-deficient diets on uroporphyria in a murine model of porphyria cutanea tarda.

Gorman N, Zaharia A, Trask HS, Szakacs JG, Jacobs NJ, Jacobs JM, Balestra D, Sinclair JF, Sinclair PR.

Hepatology. 2007 Dec;46(6):1927-834.

PMID:
17854053
24.

Effect of iron and ascorbate on uroporphyria in ascorbate-requiring mice as a model for porphyria cutanea tarda.

Gorman N, Zaharia A, Trask HS, Szakacs JG, Jacobs NJ, Jacobs JM, Balestra D, Sinclair JF, Sinclair PR.

Hepatology. 2007 Jan;45(1):187-94.

PMID:
17187429
25.

Quantitative analysis of plasma DNA in colorectal cancer patients: a novel prognostic tool.

Frattini M, Gallino G, Signoroni S, Balestra D, Battaglia L, Sozzi G, Leo E, Pilotti S, Pierotti MA.

Ann N Y Acad Sci. 2006 Sep;1075:185-90.

PMID:
17108210
26.

Phenotype-genotype correlation: challenge of intestinal-type adenocarcinoma of the nasal cavity and paranasal sinuses.

Frattini M, Perrone F, Suardi S, Balestra D, Caramuta S, Colombo F, Licitra L, Cantù G, Pierotti MA, Pilotti S.

Head Neck. 2006 Oct;28(10):909-15.

PMID:
16906516
27.

Cyclooxygenase-2 expression in FAP patients carrying germ line MYH mutations.

Frattini M, Carnevali I, Signoroni S, Balestra D, Moiraghi ML, Radice P, Varesco L, Gismondi V, Ballardini G, Sala P, Pierotti MA, Pilotti S, Bertario L.

Cancer Epidemiol Biomarkers Prev. 2005 Aug;14(8):2049-52.

28.

Effect of insulin and glucagon on accumulation of uroporphyrin and coproporphyrin from 5-aminolevulinate in hepatocyte cultures.

Trask HW, Gorman N, Dwyer BE, Jacobs NJ, Jacobs JM, Sinclair JF, Balestra D, Sinclair PR.

Arch Biochem Biophys. 2005 Jul 1;439(1):1-11.

PMID:
15946643
29.

Reproducibility of a semiquantitative measurement of circulating DNA in plasma from neoplastic patients.

Frattini M, Balestra D, Verderio P, Gallino G, Leo E, Sozzi G, Pierotti MA, Daidone MG.

J Clin Oncol. 2005 May 1;23(13):3163-4; author reply 3164-5. No abstract available.

PMID:
15860889
30.

[Profile of pediatric outpatient in cardiology clinics in the city of Ribeirão Preto].

Amaral F, Granzotti JA, Dantas BG, Balestra DC.

Arq Bras Cardiol. 2005 Feb;84(2):147-51. Epub 2005 Mar 8. Portuguese.

31.

Genetic factors influence ethanol-induced uroporphyria in Hfe(-/-) mice.

Gorman N, Trask HW, Bement WJ, Szakacs JG, Elder GH, Balestra D, Jacobs NJ, Jacobs JM, Sinclair JF, Gerhard GS, Sinclair PR.

Hepatology. 2004 Oct;40(4):942-50.

PMID:
15382179
32.

Alternative mutations of BRAF, RET and NTRK1 are associated with similar but distinct gene expression patterns in papillary thyroid cancer.

Frattini M, Ferrario C, Bressan P, Balestra D, De Cecco L, Mondellini P, Bongarzone I, Collini P, Gariboldi M, Pilotti S, Pierotti MA, Greco A.

Oncogene. 2004 Sep 23;23(44):7436-40.

PMID:
15273715
33.

Different genetic features associated with colon and rectal carcinogenesis.

Frattini M, Balestra D, Suardi S, Oggionni M, Alberici P, Radice P, Costa A, Daidone MG, Leo E, Pilotti S, Bertario L, Pierotti MA.

Clin Cancer Res. 2004 Jun 15;10(12 Pt 1):4015-21.

34.

Correspondence re: T. Zhang et al., Evidence that APC regulates survivin expression: a possible mechanism contributing to the stem cell origin of colon cancer. Cancer Res., 61: 8664-8667, 2001.

Daidone MG, Costa A, Frattini M, Balestra D, Bertario L, Pierotti MA.

Cancer Res. 2004 Jan 15;64(2):776-7; author reply 777-9. No abstract available.

35.

Uroporphyria caused by ethanol in Hfe(-/-) mice as a model for porphyria cutanea tarda.

Sinclair PR, Gorman N, Trask HW, Bement WJ, Szakacs JG, Elder GH, Balestra D, Sinclair JF, Gerhard GS.

Hepatology. 2003 Feb;37(2):351-8.

PMID:
12540785
36.

Tumor location and detection of k-ras mutations in stool from colorectal cancer patients.

Frattini M, Balestra D, Pilotti S, Bertario L, Pierotti MA.

J Natl Cancer Inst. 2003 Jan 1;95(1):72-3; author reply 73. No abstract available.

PMID:
12509403
37.

p16(INK4A) Hypermethylation detected by fluorescent methylation-specific PCR in plasmas from non-small cell lung cancer.

Bearzatto A, Conte D, Frattini M, Zaffaroni N, Andriani F, Balestra D, Tavecchio L, Daidone MG, Sozzi G.

Clin Cancer Res. 2002 Dec;8(12):3782-7.

38.

Diphtheria and tetanus immunity.

Balestra DJ.

Ann Intern Med. 2002 Nov 5;137(9):774-5; author reply 774-5. No abstract available.

PMID:
12416962
39.

Comparison of sulfasalazine and placebo in the treatment of reactive arthritis (Reiter's syndrome). A Department of Veterans Affairs Cooperative Study.

Clegg DO, Reda DJ, Weisman MH, Cush JJ, Vasey FB, Schumacher HR Jr, Budiman-Mak E, Balestra DJ, Blackburn WD, Cannon GW, Inman RD, Alepa FP, Mejias E, Cohen MR, Makkena R, Mahowald ML, Higashida J, Silverman SL, Parhami N, Buxbaum J, Haakenson CM, Ward RH, Manaster BJ, Anderson RJ, Henderson WG, et al.

Arthritis Rheum. 1996 Dec;39(12):2021-7.

PMID:
8961907
40.

Tetanus immunization in adults.

Balestra DJ, Littenberg B.

JAMA. 1994 Dec 28;272(24):1900-1. No abstract available.

PMID:
7990239
41.

Randomized clinical trials in single patients.

Balestra DJ.

JAMA. 1994 Apr 20;271(15):1159; author reply 1159-60. No abstract available.

PMID:
8151868
42.
43.

Dr Doctor calls back.

Balestra DJ.

JAMA. 1993 Apr 7;269(13):1637. No abstract available.

PMID:
8455293
44.

Specialists or generalists? The Medical Outcomes Study.

Balestra DJ.

JAMA. 1992 Sep 23-30;268(12):1537; author reply 1538. No abstract available.

PMID:
1518101
45.

Clinical prediction of Pneumocystis pneumonia.

Balestra DJ, Hennigan SH, Ross GS.

Arch Intern Med. 1992 Mar;152(3):623-4.

PMID:
1546926
46.

Advance care directives.

Balestra DJ.

J Gen Intern Med. 1992 Jan-Feb;7(1):120-1. No abstract available.

PMID:
1548539
47.

Adult chronic lead intoxication. A clinical review.

Balestra DJ.

Arch Intern Med. 1991 Sep;151(9):1718-20. Review.

PMID:
1888236
48.

Tetanus immunization of the elderly.

Balestra DJ.

J Gen Intern Med. 1991 Sep-Oct;6(5):487. No abstract available.

PMID:
1744772
49.

Reducing bone lead content by chelation treatment in chronic lead poisoning: an in vivo X-ray fluorescence and bone biopsy study.

Batuman V, Wedeen RP, Bogden JD, Balestra DJ, Jones K, Schidlovsky G.

Environ Res. 1989 Feb;48(1):70-5.

PMID:
2492468
50.

Ulcerative colitis and steroid-responsive, diffuse interstitial lung disease. A trial of N = 1.

Balestra DJ, Balestra ST, Wasson JH.

JAMA. 1988 Jul 1;260(1):62-4.

PMID:
3379724

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