Ravazzolo R - Search Results

1

Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes.

Borghini S, Di Duca M, Santamaria G, Vargiolu M, Bachetti T, Cargnin F, Pini Prato A, De Giorgio R, Lerone M, Stanghellini V, Jasonni V, Fornasari D, Ravazzolo R, Ceccherini I. Borghini S, et al. Among authors: ravazzolo r. Eur J Hum Genet. 2007 Aug;15(8):848-55. doi: 10.1038/sj.ejhg.5201852. Epub 2007 May 16. Eur J Hum Genet. 2007. PMID: 17505528

2

miR-204 mediates post-transcriptional down-regulation of PHOX2B gene expression in neuroblastoma cells.

Bachetti T, Di Zanni E, Ravazzolo R, Ceccherini I. Bachetti T, et al. Among authors: ravazzolo r. Biochim Biophys Acta. 2015 Aug;1849(8):1057-65. doi: 10.1016/j.bbagrm.2015.06.008. Epub 2015 Jul 3. Biochim Biophys Acta. 2015. PMID: 26145533

3

Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction.

Matera I, Rusmini M, Guo Y, Lerone M, Li J, Zhang J, Di Duca M, Nozza P, Mosconi M, Pini Prato A, Martucciello G, Barabino A, Morandi F, De Giorgio R, Stanghellini V, Ravazzolo R, Devoto M, Hakonarson H, Ceccherini I. Matera I, et al. Among authors: ravazzolo r. Eur J Hum Genet. 2016 Aug;24(8):1211-5. doi: 10.1038/ejhg.2015.275. Epub 2016 Jan 27. Eur J Hum Genet. 2016. PMID: 26813947 Free PMC article.

4

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: ravazzolo r. 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

5

An in vitro approach to test the possible role of candidate factors in the transcriptional regulation of the RET proto-oncogene.

Bachetti T, Borghini S, Ravazzolo R, Ceccherini I. Bachetti T, et al. Among authors: ravazzolo r. Gene Expr. 2005;12(3):137-49. doi: 10.3727/000000005783992106. Gene Expr. 2005. PMID: 16127999 Free PMC article.

6

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: ravazzolo r. Biochem J. 2006 Apr 15;395(2):355-61. doi: 10.1042/BJ20051386. Biochem J. 2006. PMID: 16402914 Free PMC article.

7

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: ravazzolo r. Mol Cancer Res. 2006 Sep;4(9):635-43. doi: 10.1158/1541-7786.MCR-05-0250. Mol Cancer Res. 2006. PMID: 16966433

8

Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome.

Parodi S, Bachetti T, Lantieri F, Di Duca M, Santamaria G, Ottonello G, Matera I, Ravazzolo R, Ceccherini I. Parodi S, et al. Among authors: ravazzolo r. Hum Mutat. 2008 Jan;29(1):206. doi: 10.1002/humu.9516. Hum Mutat. 2008. PMID: 18157832

9

Functional characterization of a minimal sequence essential for the expression of human TLX2 gene.

Borghini S, Bachetti T, Fava M, Duca MD, Ravazzolo R, Ceccherini I. Borghini S, et al. Among authors: ravazzolo r. BMB Rep. 2009 Dec 31;42(12):788-93. doi: 10.5483/bmbrep.2009.42.12.788. BMB Rep. 2009. PMID: 20044949 Free article.

10

Hirschsprung associated GDNF mutations do not prevent RET activation.

Borghini S, Bocciardi R, Bonardi G, Matera I, Santamaria G, Ravazzolo R, Ceccherini I. Borghini S, et al. Among authors: ravazzolo r. Eur J Hum Genet. 2002 Mar;10(3):183-7. doi: 10.1038/sj.ejhg.5200785. Eur J Hum Genet. 2002. PMID: 11973622

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