Matera I - Search Results

1

A mouse model of Waardenburg syndrome type IV resulting from an ENU-induced mutation in endothelin 3.

Matera I, Cockroft JL, Moran JL, Beier DR, Goldowitz D, Pavan WJ. Matera I, et al. Pigment Cell Res. 2007 Jun;20(3):210-5. doi: 10.1111/j.1600-0749.2007.00371.x. Pigment Cell Res. 2007. PMID: 17516928

2

A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy.

Matera I, Watkins-Chow DE, Loftus SK, Hou L, Incao A, Silver DL, Rivas C, Elliott EC, Baxter LL, Pavan WJ. Matera I, et al. Hum Mol Genet. 2008 Jul 15;17(14):2118-31. doi: 10.1093/hmg/ddn110. Epub 2008 Apr 7. Hum Mol Genet. 2008. PMID: 18397875 Free PMC article.

3

Gpnmb is a melanoblast-expressed, MITF-dependent gene.

Loftus SK, Antonellis A, Matera I, Renaud G, Baxter LL, Reid D, Wolfsberg TG, Chen Y, Wang C; NISC Comparative Sequencing Program; Prasad MK, Bessling SL, McCallion AS, Green ED, Bennett DC, Pavan WJ. Loftus SK, et al. Among authors: matera i. Pigment Cell Melanoma Res. 2009 Feb;22(1):99-110. doi: 10.1111/j.1755-148X.2008.00518.x. Epub 2008 Nov 1. Pigment Cell Melanoma Res. 2009. PMID: 18983539 Free PMC article.

4

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.

5

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

6

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

7

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

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

9

Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.

Tang CS, Gui H, Kapoor A, Kim JH, Luzón-Toro B, Pelet A, Burzynski G, Lantieri F, So MT, Berrios C, Shin HD, Fernández RM, Le TL, Verheij JB, Matera I, Cherny SS, Nandakumar P, Cheong HS, Antiñolo G, Amiel J, Seo JM, Kim DY, Oh JT, Lyonnet S, Borrego S, Ceccherini I, Hofstra RM, Chakravarti A, Kim HY, Sham PC, Tam PK, Garcia-Barceló MM. Tang CS, et al. Among authors: matera i. Hum Mol Genet. 2016 Dec 1;25(23):5265-5275. doi: 10.1093/hmg/ddw333. Hum Mol Genet. 2016. PMID: 27702942 Free PMC article.

10

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

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