Di Duca M - Search Results

1

Allele-specific expression at the RET locus in blood and gut tissue of individuals carrying risk alleles for Hirschsprung disease.

Matera I, Musso M, Griseri P, Rusmini M, Di Duca M, So MT, Mavilio D, Miao X, Tam PH, Ravazzolo R, Ceccherini I, Garcia-Barcelo M. Matera I, et al. Among authors: di duca m. Hum Mutat. 2013 May;34(5):754-62. doi: 10.1002/humu.22302. Epub 2013 Mar 15. Hum Mutat. 2013. PMID: 23441071

2

Lysyl oxidase activates the transcription activity of human collagene III promoter. Possible involvement of Ku antigen.

Giampuzzi M, Botti G, Di Duca M, Arata L, Ghiggeri G, Gusmano R, Ravazzolo R, Di Donato A. Giampuzzi M, et al. Among authors: di duca m, di donato a. J Biol Chem. 2000 Nov 17;275(46):36341-9. doi: 10.1074/jbc.M003362200. J Biol Chem. 2000. PMID: 10942761 Free article.

3

Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B.

Bolino A, Marigo V, Ferrera F, Loader J, Romio L, Leoni A, Di Duca M, Cinti R, Cecchi C, Feltri ML, Wrabetz L, Ravazzolo R, Monaco AP. Bolino A, et al. Among authors: di duca m. Gene. 2002 Jan 23;283(1-2):17-26. doi: 10.1016/s0378-1119(01)00876-9. Gene. 2002. PMID: 11867209

4

Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome.

Marini M, Bongers EM, Cusano R, Di Duca M, Seri M, Knoers NV, Ravazzolo R. Marini M, et al. Among authors: di duca m. Int J Mol Med. 2003 Jul;12(1):79-82. Int J Mol Med. 2003. PMID: 12792813

5

Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocin.

Caridi G, Berdeli A, Dagnino M, Di Duca M, Mir S, Cura A, Ravazzolo R, Ghiggeri GM. Caridi G, et al. Among authors: di duca m. Am J Kidney Dis. 2004 Apr;43(4):727-32. doi: 10.1053/j.ajkd.2003.12.034. Am J Kidney Dis. 2004. PMID: 15042551

6

PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome.

Matera I, Bachetti T, Puppo F, Di Duca M, Morandi F, Casiraghi GM, Cilio MR, Hennekam R, Hofstra R, Schöber JG, Ravazzolo R, Ottonello G, Ceccherini I. Matera I, et al. Among authors: di duca m. J Med Genet. 2004 May;41(5):373-80. doi: 10.1136/jmg.2003.015412. J Med Genet. 2004. PMID: 15121777 Free PMC article. No abstract available.

7

Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome.

Bachetti T, Matera I, Borghini S, Di Duca M, Ravazzolo R, Ceccherini I. Bachetti T, et al. Among authors: di duca m. Hum Mol Genet. 2005 Jul 1;14(13):1815-24. doi: 10.1093/hmg/ddi188. Epub 2005 May 11. Hum Mol Genet. 2005. PMID: 15888479

8

The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells.

Borghini S, Bachetti T, Fava M, Di Duca M, Cargnin F, Fornasari D, Ravazzolo R, Ceccherini I. Borghini S, et al. Among authors: di duca m. Biochem J. 2006 Apr 15;395(2):355-61. doi: 10.1042/BJ20051386. Biochem J. 2006. PMID: 16402914 Free PMC article.

9

Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications.

D'Osualdo A, Ferlito F, Prigione I, Obici L, Meini A, Zulian F, Pontillo A, Corona F, Barcellona R, Di Duca M, Santamaria G, Traverso F, Picco P, Baldi M, Plebani A, Ravazzolo R, Ceccherini I, Martini A, Gattorno M. D'Osualdo A, et al. Among authors: di duca m. Arthritis Rheum. 2006 Mar;54(3):998-1008. doi: 10.1002/art.21657. Arthritis Rheum. 2006. PMID: 16508982 Free article.

10

Nuclear factor Y drives basal transcription of the human TLX3, a gene overexpressed in T-cell acute lymphocytic leukemia.

Borghini S, Vargiolu M, Di Duca M, Ravazzolo R, Ceccherini I. Borghini S, et al. Among authors: di duca m. Mol Cancer Res. 2006 Sep;4(9):635-43. doi: 10.1158/1541-7786.MCR-05-0250. Mol Cancer Res. 2006. PMID: 16966433

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