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Items: 45

1.

A novel knock-in mouse model of cryopyrin-associated periodic syndromes with development of amyloidosis: Therapeutic efficacy of proton pump inhibitors.

Bertoni A, Carta S, Baldovini C, Penco F, Balza E, Borghini S, Di Duca M, Ognio E, Signori A, Nozza P, Schena F, Castellani P, Pastorino C, Perrone C, Obici L, Martini A, Ceccherini I, Gattorno M, Rubartelli A, Chiesa S.

J Allergy Clin Immunol. 2019 Jun 10. pii: S0091-6749(19)30757-2. doi: 10.1016/j.jaci.2019.05.034. [Epub ahead of print]

PMID:
31194989
2.

Evaluation of Chimerism Dynamics after Allogeneic Hematopoietic Stem Cell Transplantation in Children with Nonmalignant Diseases.

Faraci M, Bagnasco F, Leoni M, Giardino S, Terranova P, Subissi L, Di Duca M, Di Martino D, Lanino E.

Biol Blood Marrow Transplant. 2018 May;24(5):1088-1093. doi: 10.1016/j.bbmt.2017.12.801. Epub 2017 Dec 29.

3.

Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.

Lasigliè D, Mensa-Vilaro A, Ferrera D, Caorsi R, Penco F, Santamaria G, Di Duca M, Amico G, Nakagawa K, Antonini F, Tommasini A, Consolini R, Insalaco A, Cattalini M, Obici L, Gallizzi R, Santarelli F, Del Zotto G, Severino M, Rubartelli A, Ravazzolo R, Martini A, Ceccherini I, Nishikomori R, Gattorno M, Arostegui JI, Borghini S.

J Rheumatol. 2017 Nov;44(11):1667-1673. doi: 10.3899/jrheum.170041. Epub 2017 Sep 15.

PMID:
28916543
4.

Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction.

Matera I, Rusmini M, Guo Y, Lerone M, Li J, Zhang J, Di Duca M, Nozza P, Mosconi M, Pini Prato A, Martucciello G, Barabino A, Morandi F, De Giorgio R, Stanghellini V, Ravazzolo R, Devoto M, Hakonarson H, Ceccherini I.

Eur J Hum Genet. 2016 Aug;24(8):1211-5. doi: 10.1038/ejhg.2015.275. Epub 2016 Jan 27.

5.

Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene.

Caridi G, Dagnino M, Erdeve O, Di Duca M, Yildiz D, Alan S, Atasay B, Arsan S, Campagnoli M, Galliano M, Minchiotti L.

Biochem Med (Zagreb). 2014 Feb 15;24(1):151-8. doi: 10.11613/BM.2014.017. eCollection 2014.

6.

Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism.

Bachetti T, Di Duca M, Della Monica M, Grappone L, Scarano G, Ceccherini I.

Pediatr Pulmonol. 2014 Mar;49(3):E45-7. doi: 10.1002/ppul.22790. Epub 2013 Mar 4.

PMID:
23460545
7.

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.

Hum Mutat. 2013 May;34(5):754-62. doi: 10.1002/humu.22302. Epub 2013 Mar 15. Erratum in: Hum Mutat. 2013 Jul;34(7):1047.

PMID:
23441071
8.

A two-base-pairs deletion in the albumin gene causes a new case of analbuminemia.

Caridi G, Dagnino M, Di Duca M, Santra S, Ball S, Sulaiman RA, Campagnoli M, Galliano M, Minchiotti L.

Clin Chem Lab Med. 2012 Dec;50(12):2221-3. No abstract available.

PMID:
23093284
9.

A novel two bases deletion in the albumin gene causes analbuminaemia in a young Turkish man.

Caridi G, Dagnino M, Di Duca M, Akyuz F, Boztas G, Besisik F, Demir K, Ormeci A, Gokturk S, Cefle K, Ozturk Ş, Palanduz S, Campagnoli M, Galliano M, Minchiotti L.

Clin Chim Acta. 2012 May 18;413(9-10):950-1. doi: 10.1016/j.cca.2012.01.030. Epub 2012 Feb 1. No abstract available.

PMID:
22327004
10.

A novel splicing mutation causes analbuminemia in a Portuguese boy.

Caridi G, Dagnino M, Di Duca M, Pinto H, Espinheira Mdo C, Guerra A, Fernandes S, Campagnoli M, Galliano M, Minchiotti L.

Mol Genet Metab. 2012 Mar;105(3):479-83. doi: 10.1016/j.ymgme.2011.12.009. Epub 2011 Dec 16.

PMID:
22227324
11.

Candidate genes in patients with autoinflammatory syndrome resembling tumor necrosis factor receptor-associated periodic syndrome without mutations in the TNFRSF1A gene.

Borghini S, Fiore M, Di Duca M, Caroli F, Finetti M, Santamaria G, Ferlito F, Bua F, Picco P, Obici L, Martini A, Gattorno M, Ceccherini I.

J Rheumatol. 2011 Jul;38(7):1378-84. doi: 10.3899/jrheum.101260. Epub 2011 Apr 1.

PMID:
21459945
12.

Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation.

Borghini S, Tassi S, Chiesa S, Caroli F, Carta S, Caorsi R, Fiore M, Delfino L, Lasigliè D, Ferraris C, Traggiai E, Di Duca M, Santamaria G, D'Osualdo A, Tosca M, Martini A, Ceccherini I, Rubartelli A, Gattorno M.

Arthritis Rheum. 2011 Mar;63(3):830-9. doi: 10.1002/art.30170.

13.

Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome.

Bachetti T, Parodi S, Di Duca M, Santamaria G, Ravazzolo R, Ceccherini I.

J Mol Med (Berl). 2011 May;89(5):505-13. doi: 10.1007/s00109-010-0718-y. Epub 2011 Feb 19.

PMID:
21336852
14.

A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents.

Marini M, Bocciardi R, Gimelli S, Di Duca M, Divizia MT, Baban A, Gaspar H, Mammi I, Garavelli L, Cerone R, Emma F, Bedeschi MF, Tenconi R, Sensi A, Salmaggi A, Bengala M, Mari F, Colussi G, Szczaluba K, Antonarakis SE, Seri M, Lerone M, Ravazzolo R.

Genet Med. 2010 Jul;12(7):431-9. doi: 10.1097/GIM.0b013e3181e21afa.

PMID:
20531206
15.

Congenital central hypoventilation syndrome: genotype-phenotype correlation in parents of affected children carrying a PHOX2B expansion mutation.

Parodi S, Vollono C, Baglietto MP, Balestri M, Di Duca M, Landri PA, Ceccherini I, Ottonello G, Cilio MR.

Clin Genet. 2010 Sep;78(3):289-93. doi: 10.1111/j.1399-0004.2010.01383.x. Epub 2010 Feb 11.

PMID:
20236122
16.

Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome.

Lualdi S, Tappino B, Di Duca M, Dardis A, Anderson CJ, Biassoni R, Thompson PW, Corsolini F, Di Rocco M, Bembi B, Regis S, Cooper DN, Filocamo M.

Hum Mutat. 2010 Apr;31(4):E1261-85. doi: 10.1002/humu.21208.

PMID:
20104590
17.

Multiplex ligation-dependent probe amplification to detect a large deletion within the von Willebrand gene.

Acquila M, Bottini F, DI Duca M, Vijzelaar R, Molinari AC, Bicocchi MP.

Haemophilia. 2009 Nov;15(6):1346-8. doi: 10.1111/j.1365-2516.2009.02078.x. Epub 2009 Jul 20. No abstract available.

PMID:
19686465
18.

Mutation-specific potency and efficacy of cystic fibrosis transmembrane conductance regulator chloride channel potentiators.

Caputo A, Hinzpeter A, Caci E, Pedemonte N, Arous N, Di Duca M, Zegarra-Moran O, Fanen P, Galietta LJ.

J Pharmacol Exp Ther. 2009 Sep;330(3):783-91. doi: 10.1124/jpet.109.154146. Epub 2009 Jun 2.

19.

Association of alleles at polymorphic sites in the Osteopontin encoding gene in young type 1 diabetic patients.

Marciano R, D'Annunzio G, Minuto N, Pasquali L, Santamaria A, Di Duca M, Ravazzolo R, Lorini R.

Clin Immunol. 2009 Apr;131(1):84-91. doi: 10.1016/j.clim.2008.11.004. Epub 2009 Jan 12.

PMID:
19138884
20.

Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements.

Bocciardi R, Bordo D, Di Duca M, Di Rocco M, Ravazzolo R.

Eur J Hum Genet. 2009 Mar;17(3):311-8. doi: 10.1038/ejhg.2008.178. Epub 2008 Oct 1.

21.

MLPA assay in F8 gene mutation screening.

Acquila M, Pasino M, Di Duca M, Bottini F, Molinari AC, Bicocchi MP.

Haemophilia. 2008 May;14(3):625-7. doi: 10.1111/j.1365-2516.2008.01659.x. Epub 2008 Feb 25. No abstract available.

PMID:
18312364
22.

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.

Hum Mutat. 2008 Jan;29(1):206.

PMID:
18157832
23.

Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes.

Borghini S, Di Duca M, Santamaria G, Vargiolu M, Bachetti T, Cargnin F, Pini Prato A, De Giorgio R, Lerone M, Stanghellini V, Jasonni V, Fornasari D, Ravazzolo R, Ceccherini I.

Eur J Hum Genet. 2007 Aug;15(8):848-55. Epub 2007 May 16.

24.

A common variant located in the 3'UTR of the RET gene is associated with protection from Hirschsprung disease.

Griseri P, Lantieri F, Puppo F, Bachetti T, Di Duca M, Ravazzolo R, Ceccherini I.

Hum Mutat. 2007 Feb;28(2):168-76.

PMID:
16986122
25.

Nuclear factor Y drives basal transcription of the human TLX3, a gene overexpressed in T-cell acute lymphocytic leukemia.

Borghini S, Vargiolu M, Di Duca M, Ravazzolo R, Ceccherini I.

Mol Cancer Res. 2006 Sep;4(9):635-43.

26.

Cis and trans regulatory elements in NPHS2 promoter: implications in proteinuria and progression of renal diseases.

Di Duca M, Oleggini R, Sanna-Cherchi S, Pasquali L, Di Donato A, Parodi S, Bertelli R, Caridi G, Frasca G, Cerullo G, Amoroso A, Schena FP, Scolari F, Ghiggeri GM; European IgA Nephropathy Consortium.

Kidney Int. 2006 Oct;70(7):1332-41. Epub 2006 Aug 9.

27.

Rare functional variants of podocin (NPHS2) promoter in patients with nephrotic syndrome.

Oleggini R, Bertelli R, Di Donato A, Di Duca M, Caridi G, Sanna-Cherchi S, Scolari F, Murer L, Allegri L, Coppo R, Emma F, Camussi G, Perfumo F, Ghiggeri GM.

Gene Expr. 2006;13(1):59-66.

28.

Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications.

D'Osualdo A, Ferlito F, Prigione I, Obici L, Meini A, Zulian F, Pontillo A, Corona F, Barcellona R, Di Duca M, Santamaria G, Traverso F, Picco P, Baldi M, Plebani A, Ravazzolo R, Ceccherini I, Martini A, Gattorno M.

Arthritis Rheum. 2006 Mar;54(3):998-1008.

29.

The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells.

Borghini S, Bachetti T, Fava M, Di Duca M, Cargnin F, Fornasari D, Ravazzolo R, Ceccherini I.

Biochem J. 2006 Apr 15;395(2):355-61.

30.

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.

Hum Mol Genet. 2005 Jul 1;14(13):1815-24. Epub 2005 May 11.

PMID:
15888479
31.

PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome.

Matera I, Bachetti T, Puppo F, Di Duca M, Morandi F, Casiraghi GM, Cilio MR, Hennekam R, Hofstra R, Schöber JG, Ravazzolo R, Ottonello G, Ceccherini I.

J Med Genet. 2004 May;41(5):373-80. No abstract available.

32.

Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocin.

Caridi G, Berdeli A, Dagnino M, Di Duca M, Mir S, Cura A, Ravazzolo R, Ghiggeri GM.

Am J Kidney Dis. 2004 Apr;43(4):727-32.

PMID:
15042551
33.

An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient.

Regis S, Corsolini F, Ricci V, Di Duca M, Filocamo M.

Eur J Hum Genet. 2004 Feb;12(2):150-4.

34.

Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome.

Ricci V, Filocamo M, Regis S, Corsolini F, Stroppiano M, Di Duca M, Gatti R.

Am J Med Genet A. 2003 Jul 1;120A(1):84-7.

PMID:
12794697
35.

Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome.

Marini M, Bongers EM, Cusano R, Di Duca M, Seri M, Knoers NV, Ravazzolo R.

Int J Mol Med. 2003 Jul;12(1):79-82.

PMID:
12792813
36.

Podocin mutations in sporadic focal-segmental glomerulosclerosis occurring in adulthood.

Caridi G, Bertelli R, Scolari F, Sanna-Cherchi S, Di Duca M, Ghiggeri GM.

Kidney Int. 2003 Jul;64(1):365. No abstract available.

37.

Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocin.

Bertelli R, Ginevri F, Caridi G, Dagnino M, Sandrini S, Di Duca M, Emma F, Sanna-Cherchi S, Scolari F, Neri TM, Murer L, Massella L, Basile G, Rizzoni G, Perfumo F, Ghiggeri GM.

Am J Kidney Dis. 2003 Jun;41(6):1314-21.

PMID:
12776285
38.

Broadening the spectrum of diseases related to podocin mutations.

Caridi G, Bertelli R, Di Duca M, Dagnino M, Emma F, Onetti Muda A, Scolari F, Miglietti N, Mazzucco G, Murer L, Carrea A, Massella L, Rizzoni G, Perfumo F, Ghiggeri GM.

J Am Soc Nephrol. 2003 May;14(5):1278-86.

39.

Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.

Azzedine H, Bolino A, Taïeb T, Birouk N, Di Duca M, Bouhouche A, Benamou S, Mrabet A, Hammadouche T, Chkili T, Gouider R, Ravazzolo R, Brice A, Laporte J, LeGuern E.

Am J Hum Genet. 2003 May;72(5):1141-53. Epub 2003 Apr 8.

40.

An Alu-mediated rearrangement as cause of exon skipping in Hunter disease.

Ricci V, Regis S, Di Duca M, Filocamo M.

Hum Genet. 2003 Apr;112(4):419-25. Epub 2003 Feb 11.

PMID:
12579417
41.

Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B.

Bolino A, Marigo V, Ferrera F, Loader J, Romio L, Leoni A, Di Duca M, Cinti R, Cecchi C, Feltri ML, Wrabetz L, Ravazzolo R, Monaco AP.

Gene. 2002 Jan 23;283(1-2):17-26.

PMID:
11867209
42.

Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis.

Caridi G, Bertelli R, Carrea A, Di Duca M, Catarsi P, Artero M, Carraro M, Zennaro C, Candiano G, Musante L, Seri M, Ginevri F, Perfumo F, Ghiggeri GM.

J Am Soc Nephrol. 2001 Dec;12(12):2742-6.

43.

Lysyl oxidase activates the transcription activity of human collagene III promoter. Possible involvement of Ku antigen.

Giampuzzi M, Botti G, Di Duca M, Arata L, Ghiggeri G, Gusmano R, Ravazzolo R, Di Donato A.

J Biol Chem. 2000 Nov 17;275(46):36341-9.

44.

Micro-injection of recombinant lysyl oxidase blocks oncogenic p21-Ha-Ras and progesterone effects on Xenopus laevis oocyte maturation.

Di Donato A, Lacal JC, Di Duca M, Giampuzzi M, Ghiggeri G, Gusmano R.

FEBS Lett. 1997 Dec 8;419(1):63-8.

45.

Lysyl oxidase expression and collagen cross-linking during chronic adriamycin nephropathy.

Di Donato A, Ghiggeri GM, Di Duca M, Jivotenko E, Acinni R, Campolo J, Ginevri F, Gusmano R.

Nephron. 1997;76(2):192-200.

PMID:
9200411

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