Santoro A - Search Results

1

Germline mutations of the perforin gene are a frequent occurrence in childhood anaplastic large cell lymphoma.

Cannella S, Santoro A, Bruno G, Pillon M, Mussolin L, Mangili G, Rosolen A, Aricò M. Cannella S, et al. Among authors: santoro a. Cancer. 2007 Jun 15;109(12):2566-71. doi: 10.1002/cncr.22718. Cancer. 2007. PMID: 17477373 Free article.

2

A single amino acid change A91V in perforin: a novel, frequent predisposing factor to childhood acute lymphoblastic leukemia?

Santoro A, Cannella S, Trizzino A, Lo Nigro L, Corsello G, Aricò M. Santoro A, et al. Haematologica. 2005 May;90(5):697-8. Haematologica. 2005. PMID: 15921391

3

Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3.

Santoro A, Cannella S, Trizzino A, Bruno G, De Fusco C, Notarangelo LD, Pende D, Griffiths GM, Aricò M. Santoro A, et al. Haematologica. 2008 Jul;93(7):1086-90. doi: 10.3324/haematol.12622. Epub 2008 May 19. Haematologica. 2008. PMID: 18492689 Free article.

4

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.

Cetica V, Santoro A, Gilmour KC, Sieni E, Beutel K, Pende D, Marcenaro S, Koch F, Grieve S, Wheeler R, Zhao F, zur Stadt U, Griffiths GM, Aricò M. Cetica V, et al. Among authors: santoro a. J Med Genet. 2010 Sep;47(9):595-600. doi: 10.1136/jmg.2009.075341. J Med Genet. 2010. PMID: 20798128 Free PMC article.

5

Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease.

Marcenaro S, Gallo F, Martini S, Santoro A, Griffiths GM, Aricó M, Moretta L, Pende D. Marcenaro S, et al. Among authors: santoro a. Blood. 2006 Oct 1;108(7):2316-23. doi: 10.1182/blood-2006-04-015693. Epub 2006 Jun 15. Blood. 2006. PMID: 16778144 Free article.

6

A single amino acid change, A91V, leads to conformational changes that can impair processing to the active form of perforin.

Trambas C, Gallo F, Pende D, Marcenaro S, Moretta L, De Fusco C, Santoro A, Notarangelo L, Arico M, Griffiths GM. Trambas C, et al. Among authors: santoro a. Blood. 2005 Aug 1;106(3):932-7. doi: 10.1182/blood-2004-09-3713. Epub 2005 Mar 1. Blood. 2005. PMID: 15741215 Free article.

7

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.

Sieni E, Cetica V, Santoro A, Beutel K, Mastrodicasa E, Meeths M, Ciambotti B, Brugnolo F, zur Stadt U, Pende D, Moretta L, Griffiths GM, Henter JI, Janka G, Aricò M. Sieni E, et al. Among authors: santoro a. J Med Genet. 2011 May;48(5):343-52. doi: 10.1136/jmg.2010.085456. Epub 2011 Jan 19. J Med Genet. 2011. PMID: 21248318 Free PMC article.

8

Altered mRNA expression of PAX5 is a common event in acute lymphoblastic leukaemia.

Santoro A, Bica MG, Dagnino L, Agueli C, Salemi D, Cannella S, Veltroni M, Cetica V, Giarin E, Fabbiano F, Basso G, Arico M. Santoro A, et al. Br J Haematol. 2009 Sep;146(6):686-9. doi: 10.1111/j.1365-2141.2009.07815.x. Epub 2009 Jul 13. Br J Haematol. 2009. PMID: 19604238 Free article. No abstract available.

9

Diagnostic test assessment. Validation study of an alternative system to detect microsatellite instability in colorectal carcinoma.

Vatrano S, Pettinato A, Randazzo V, Zagami M, Agueli C, Cannella S, Banna GL, Fraggetta F, Santoro A. Vatrano S, et al. Among authors: santoro a. Pathologica. 2020 Dec;112(4):178-183. doi: 10.32074/1591-951X-113. Epub 2020 Jul 28. Pathologica. 2020. PMID: 32893846 Free PMC article.

10

Carboxyamidotriazole inhibits cell growth of imatinib-resistant chronic myeloid leukaemia cells including T315I Bcr-Abl mutant by a redox-mediated mechanism.

Corrado C, Raimondo S, Flugy AM, Fontana S, Santoro A, Stassi G, Marfia A, Iovino F, Arlinghaus R, Kohn EC, Leo GD, Alessandro R. Corrado C, et al. Among authors: santoro a. Cancer Lett. 2011 Jan 28;300(2):205-14. doi: 10.1016/j.canlet.2010.10.007. Epub 2010 Oct 30. Cancer Lett. 2011. PMID: 21041018

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