Matera I - Search Results

1

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: matera i. Eur J Hum Genet. 2002 Mar;10(3):183-7. doi: 10.1038/sj.ejhg.5200785. Eur J Hum Genet. 2002. PMID: 11973622

2

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: matera i. 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

3

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. Hum Mutat. 2013 May;34(5):754-62. doi: 10.1002/humu.22302. Epub 2013 Mar 15. Hum Mutat. 2013. PMID: 23441071

4

Expression variability and function of the RET gene in adult peripheral blood mononuclear cells.

Rusmini M, Griseri P, Matera I, Pontarini E, Ravazzolo R, Mavilio D, Ceccherini I. Rusmini M, et al. Among authors: matera i. J Cell Physiol. 2014 Dec;229(12):2027-37. doi: 10.1002/jcp.24660. J Cell Physiol. 2014. PMID: 24777754

5

Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease.

Luo Y, Ceccherini I, Pasini B, Matera I, Bicocchi MP, Barone V, Bocciardi R, Kääriäinen H, Weber D, Devoto M, et al. Luo Y, et al. Among authors: matera i. Hum Mol Genet. 1993 Nov;2(11):1803-8. doi: 10.1093/hmg/2.11.1803. Hum Mol Genet. 1993. PMID: 7904208

6

cDNA sequence and genomic structure of the rat RET proto-oncogene.

Matera I, De Miguel-Rodríguez M, Fernández-Santos JM, Santamaria G, Puliti A, Ravazzolo R, Romeo G, Galera-Davidson H, Ceccherini I. Matera I, et al. DNA Seq. 2000;11(5):405-17. doi: 10.3109/10425170009033991. DNA Seq. 2000. PMID: 11328649

7

Mutational analysis of the RNX gene in congenital central hypoventilation syndrome.

Matera I, Bachetti T, Cinti R, Lerone M, Gagliardi L, Morandi F, Motta M, Mosca F, Ottonello G, Piumelli R, Schober JG, Ravazzolo R, Ceccherini I. Matera I, et al. Am J Med Genet. 2002 Nov 22;113(2):178-82. doi: 10.1002/ajmg.10746. Am J Med Genet. 2002. PMID: 12407709

8

Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions.

Bachetti T, Bocca P, Borghini S, Matera I, Prigione I, Ravazzolo R, Ceccherini I. Bachetti T, et al. Among authors: matera i. Int J Biochem Cell Biol. 2007;39(2):327-39. doi: 10.1016/j.biocel.2006.08.014. Epub 2006 Sep 14. Int J Biochem Cell Biol. 2007. PMID: 17045833

9

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: matera i. Hum Mutat. 2008 Jan;29(1):206. doi: 10.1002/humu.9516. Hum Mutat. 2008. PMID: 18157832

10

Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from Hirschsprung patients.

Rusmini M, Griseri P, Lantieri F, Matera I, Hudspeth KL, Roberto A, Mikulak J, Avanzini S, Rossi V, Mattioli G, Jasonni V, Ravazzolo R, Pavan WJ, Pini-Prato A, Ceccherini I, Mavilio D. Rusmini M, et al. Among authors: matera i. PLoS One. 2013;8(3):e59066. doi: 10.1371/journal.pone.0059066. Epub 2013 Mar 18. PLoS One. 2013. PMID: 23527089 Free PMC article.

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