Ritelli M - Search Results

1

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β.

Li J, Ritelli M, Ma CS, Rao G, Habib T, Corvilain E, Bougarn S, Cypowyj S, Grodecká L, Lévy R, Béziat V, Shang L, Payne K, Avery DT, Migaud M, Boucherit S, Boughorbel S, Guennoun A, Chrabieh M, Rapaport F, Bigio B, Itan Y, Boisson B, Cormier-Daire V, Syx D, Malfait F, Zoppi N, Abel L, Freiberger T, Dietz HC, Marr N, Tangye SG, Colombi M, Casanova JL, Puel A. Li J, et al. Among authors: ritelli m. Sci Immunol. 2019 Nov 29;4(41):eaax7965. doi: 10.1126/sciimmunol.aax7965. Sci Immunol. 2019. PMID: 31784499 Free PMC article.

2

The FN13 peptide inhibits human tumor cells invasion through the modulation of alpha v beta 3 integrins organization and the inactivation of ILK pathway.

Zoppi N, Ritelli M, Salvi A, Colombi M, Barlati S. Zoppi N, et al. Among authors: ritelli m. Biochim Biophys Acta. 2007 Jun;1773(6):747-63. doi: 10.1016/j.bbamcr.2007.02.007. Epub 2007 Feb 24. Biochim Biophys Acta. 2007. PMID: 17383746 Free article.

3

Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.

Drera B, Ritelli M, Zoppi N, Wischmeijer A, Gnoli M, Fattori R, Calzavara-Pinton PG, Barlati S, Colombi M. Drera B, et al. Among authors: ritelli m. Orphanet J Rare Dis. 2009 Nov 2;4:24. doi: 10.1186/1750-1172-4-24. Orphanet J Rare Dis. 2009. PMID: 19883511 Free PMC article.

4

Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio.

Chiarelli N, Ritelli M, Zoppi N, Benini A, Borsani G, Barlati S, Colombi M. Chiarelli N, et al. Among authors: ritelli m. Int J Dev Biol. 2011;55(2):229-36. doi: 10.1387/ijdb.103179nc. Int J Dev Biol. 2011. PMID: 21553381 Free article.

5

Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene.

Castori M, Ritelli M, Zoppi N, Molisso L, Chiarelli N, Zaccagna F, Grammatico P, Colombi M. Castori M, et al. Among authors: ritelli m. Am J Med Genet A. 2012 May;158A(5):1164-9. doi: 10.1002/ajmg.a.35266. Epub 2012 Apr 9. Am J Med Genet A. 2012. PMID: 22488877

6

Type III and V collagens modulate the expression and assembly of EDA(+) fibronectin in the extracellular matrix of defective Ehlers-Danlos syndrome fibroblasts.

Zoppi N, Ritelli M, Colombi M. Zoppi N, et al. Among authors: ritelli m. Biochim Biophys Acta. 2012 Oct;1820(10):1576-87. doi: 10.1016/j.bbagen.2012.06.004. Epub 2012 Jun 15. Biochim Biophys Acta. 2012. PMID: 22705941

7

Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type.

Dordoni C, Ritelli M, Venturini M, Chiarelli N, Pezzani L, Vascellaro A, Calzavara-Pinton P, Colombi M. Dordoni C, et al. Among authors: ritelli m. Am J Med Genet A. 2013 May;161A(5):1143-7. doi: 10.1002/ajmg.a.35825. Epub 2013 Mar 26. Am J Med Genet A. 2013. PMID: 23533212

8

Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.

Ritelli M, Dordoni C, Venturini M, Chiarelli N, Quinzani S, Traversa M, Zoppi N, Vascellaro A, Wischmeijer A, Manfredini E, Garavelli L, Calzavara-Pinton P, Colombi M. Ritelli M, et al. Orphanet J Rare Dis. 2013 Apr 12;8:58. doi: 10.1186/1750-1172-8-58. Orphanet J Rare Dis. 2013. PMID: 23587214 Free PMC article.

9

Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing.

Ritelli M, Chiarelli N, Quinzani S, Dordoni C, Venturini M, Pezzani L, Calzavara-Pinton P, Colombi M. Ritelli M, et al. J Dermatol Sci. 2014 Jul;75(1):66-8. doi: 10.1016/j.jdermsci.2014.04.004. Epub 2014 Apr 18. J Dermatol Sci. 2014. PMID: 24815019 No abstract available.

10

Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation.

Ritelli M, Chiarelli N, Dordoni C, Quinzani S, Venturini M, Maroldi R, Calzavara-Pinton P, Colombi M. Ritelli M, et al. BMC Med Genet. 2014 Aug 28;15:91. doi: 10.1186/s12881-014-0091-8. BMC Med Genet. 2014. PMID: 25163805 Free PMC article.

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