Di Duca M - Search Results

1

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

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

An Alu-mediated rearrangement as cause of exon skipping in Hunter disease.

Ricci V, Regis S, Di Duca M, Filocamo M. Ricci V, et al. Among authors: di duca m. Hum Genet. 2003 Apr;112(4):419-25. doi: 10.1007/s00439-002-0900-6. Epub 2003 Feb 11. Hum Genet. 2003. PMID: 12579417

5

Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.

Azzedine H, Bolino A, Taïeb T, Birouk N, Di Duca M, Bouhouche A, Benamou S, Mrabet A, Hammadouche T, Chkili T, Gouider R, Ravazzolo R, Brice A, Laporte J, LeGuern E. Azzedine H, et al. Among authors: di duca m. Am J Hum Genet. 2003 May;72(5):1141-53. doi: 10.1086/375034. Epub 2003 Apr 8. Am J Hum Genet. 2003. PMID: 12687498 Free PMC article.

6

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

7

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

8

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.

9

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.

10

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.

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