Rosatelli MC - Search Results

1

Meloni A, Fiorillo E, Corda D, Incani F, Serra ML, Contini A, Cao A, Rosatelli MC. Meloni A, et al. Among authors: rosatelli mc. J Biol Chem. 2010 Apr 23;285(17):13012-21. doi: 10.1074/jbc.M109.037747. Epub 2010 Feb 25. J Biol Chem. 2010. PMID: 20185822 Free PMC article.

2

Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Faà V, Incani F, Meloni A, Corda D, Masala M, Baffico AM, Seia M, Cao A, Rosatelli MC. Faà V, et al. Among authors: rosatelli mc. J Biol Chem. 2009 Oct 30;284(44):30024-31. doi: 10.1074/jbc.M109.032623. Epub 2009 Sep 15. J Biol Chem. 2009. PMID: 19759008 Free PMC article.

3

Role of PHD fingers and COOH-terminal 30 amino acids in AIRE transactivation activity.

Meloni A, Incani F, Corda D, Cao A, Rosatelli MC. Meloni A, et al. Among authors: rosatelli mc. Mol Immunol. 2008 Feb;45(3):805-9. doi: 10.1016/j.molimm.2007.06.156. Epub 2007 Aug 1. Mol Immunol. 2008. PMID: 17675238

4

Two novel mutations of the AIRE protein affecting its homodimerization properties.

Meloni A, Fiorillo E, Corda D, Perniola R, Cao A, Rosatelli MC. Meloni A, et al. Among authors: rosatelli mc. Hum Mutat. 2005 Mar;25(3):319. doi: 10.1002/humu.9309. Hum Mutat. 2005. PMID: 15712268

5

AIRE acetylation and deacetylation: effect on protein stability and transactivation activity.

Incani F, Serra M, Meloni A, Cossu C, Saba L, Cabras T, Messana I, Rosatelli MC. Incani F, et al. Among authors: rosatelli mc. J Biomed Sci. 2014 Aug 27;21(1):85. doi: 10.1186/s12929-014-0085-z. J Biomed Sci. 2014. PMID: 25158603 Free PMC article.

6

Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.

Meloni A, Perniola R, Faà V, Corvaglia E, Cao A, Rosatelli MC. Meloni A, et al. Among authors: rosatelli mc. J Clin Endocrinol Metab. 2002 Feb;87(2):841-6. doi: 10.1210/jcem.87.2.8209. J Clin Endocrinol Metab. 2002. PMID: 11836330

7

New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy.

Cossu C, Incani F, Serra ML, Coiana A, Crisponi G, Boccone L, Rosatelli MC. Cossu C, et al. Among authors: rosatelli mc. Clin Chim Acta. 2016 Apr 1;455:172-80. doi: 10.1016/j.cca.2016.02.006. Epub 2016 Feb 11. Clin Chim Acta. 2016. PMID: 26874042

8

β-defensin CNV is not associated with susceptibility to Candida albicans infections in Sardinian APS I patients.

Incani F, Cossu C, Meloni A, Faà V, Serra ML, Dettori F, Meloni A, Rosatelli MC. Incani F, et al. Among authors: rosatelli mc. J Oral Pathol Med. 2017 May;46(5):393-397. doi: 10.1111/jop.12506. Epub 2016 Oct 22. J Oral Pathol Med. 2017. PMID: 27682444

9

New frameshift mutation in the DAX-1 gene in a patient with X-linked adrenal hypoplasia and hypogonadotropic hypogonadism.

Meloni A, Meloni A, Cao A, Rosatelli MC. Meloni A, et al. Among authors: rosatelli mc. Hum Mutat. 1996;8(2):183-4. doi: 10.1002/(SICI)1098-1004(1996)8:2<183::AID-HUMU12>3.0.CO;2-Z. Hum Mutat. 1996. PMID: 8844218 No abstract available.

10

A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.

Rosatelli MC, Meloni A, Meloni A, Devoto M, Cao A, Scott HS, Peterson P, Heino M, Krohn KJ, Nagamine K, Kudoh J, Shimizu N, Antonarakis SE. Rosatelli MC, et al. Hum Genet. 1998 Oct;103(4):428-34. doi: 10.1007/s004390050846. Hum Genet. 1998. PMID: 9856486

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