Fusco F - Search Results

1

Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms.

Fusco F, Paciolla M, Napolitano F, Pescatore A, D'Addario I, Bal E, Lioi MB, Smahi A, Miano MG, Ursini MV. Fusco F, et al. Hum Mol Genet. 2012 Mar 15;21(6):1260-71. doi: 10.1093/hmg/ddr556. Epub 2011 Nov 25. Hum Mol Genet. 2012. PMID: 22121116

2

Molecular anatomy of the human glucose 6-phosphate dehydrogenase core promoter.

Franzè A, Ferrante MI, Fusco F, Santoro A, Sanzari E, Martini G, Ursini MV. Franzè A, et al. Among authors: fusco f. FEBS Lett. 1998 Oct 23;437(3):313-8. doi: 10.1016/s0014-5793(98)01259-9. FEBS Lett. 1998. PMID: 9824315 Free article.

3

Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population.

Adriani M, Martinez-Mir A, Fusco F, Busiello R, Frank J, Telese S, Matrecano E, Ursini MV, Christiano AM, Pignata C. Adriani M, et al. Among authors: fusco f. Ann Hum Genet. 2004 May;68(Pt 3):265-8. doi: 10.1046/j.1529-8817.2004.00091.x. Ann Hum Genet. 2004. PMID: 15180707

4

Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation.

Fusco F, Bardaro T, Fimiani G, Mercadante V, Miano MG, Falco G, Israël A, Courtois G, D'Urso M, Ursini MV. Fusco F, et al. Hum Mol Genet. 2004 Aug 15;13(16):1763-73. doi: 10.1093/hmg/ddh192. Epub 2004 Jun 30. Hum Mol Genet. 2004. PMID: 15229184

5

Multiple regulatory regions and tissue-specific transcription initiation mediate the expression of NEMO/IKKgamma gene.

Fusco F, Mercadante V, Miano MG, Ursini MV. Fusco F, et al. Gene. 2006 Nov 15;383:99-107. doi: 10.1016/j.gene.2006.07.022. Epub 2006 Aug 2. Gene. 2006. PMID: 16997509

6

Clinical diagnosis of incontinentia pigmenti in a cohort of male patients.

Fusco F, Fimiani G, Tadini G, Michele D, Ursini MV. Fusco F, et al. J Am Acad Dermatol. 2007 Feb;56(2):264-7. doi: 10.1016/j.jaad.2006.09.019. Epub 2006 Nov 7. J Am Acad Dermatol. 2007. PMID: 17224368

7

Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti.

Sebban-Benin H, Pescatore A, Fusco F, Pascuale V, Gautheron J, Yamaoka S, Moncla A, Ursini MV, Courtois G. Sebban-Benin H, et al. Among authors: fusco f. Hum Mol Genet. 2007 Dec 1;16(23):2805-15. doi: 10.1093/hmg/ddm237. Epub 2007 Aug 29. Hum Mol Genet. 2007. PMID: 17728323

8

Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.

Fusco F, Pescatore A, Bal E, Ghoul A, Paciolla M, Lioi MB, D'Urso M, Rabia SH, Bodemer C, Bonnefont JP, Munnich A, Miano MG, Smahi A, Ursini MV. Fusco F, et al. Hum Mutat. 2008 May;29(5):595-604. doi: 10.1002/humu.20739. Hum Mutat. 2008. PMID: 18350553

9

Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti.

Fusco F, Paciolla M, Pescatore A, Lioi MB, Ayuso C, Faravelli F, Gentile M, Zollino M, D'Urso M, Miano MG, Ursini MV. Fusco F, et al. Hum Mutat. 2009 Sep;30(9):1284-91. doi: 10.1002/humu.21069. Hum Mutat. 2009. PMID: 19603533

10

The LCR at the IKBKG locus is prone to recombine.

Fusco F, D'Urso M, Miano MG, Ursini MV. Fusco F, et al. Am J Hum Genet. 2010 Apr 9;86(4):650-2; author reply 652-3. doi: 10.1016/j.ajhg.2009.12.019. Am J Hum Genet. 2010. PMID: 20380930 Free PMC article. No abstract available.

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