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Items: 1 to 50 of 229

1.

Severe Heterotopic Ossification in the Skeletal Muscle and Endothelial Cells Recruitment to Chondrogenesis Are Enhanced by Monocyte/Macrophage Depletion.

Tirone M, Giovenzana A, Vallone A, Zordan P, Sormani M, Nicolosi PA, Meneveri R, Gigliotti CR, Spinelli AE, Bocciardi R, Ravazzolo R, Cifola I, Brunelli S.

Front Immunol. 2019 Jul 19;10:1640. doi: 10.3389/fimmu.2019.01640. eCollection 2019.

2.

Thymosin α-1 does not correct F508del-CFTR in cystic fibrosis airway epithelia.

Tomati V, Caci E, Ferrera L, Pesce E, Sondo E, Cholon DM, Quinney NL, Boyles SE, Armirotti A, Ravazzolo R, Galietta LJ, Gentzsch M, Pedemonte N.

JCI Insight. 2019 Apr 4;4(7). pii: 128935. doi: 10.1172/jci.insight.128935. eCollection 2019 Apr 4. No abstract available.

3.

Identification of reference genes for quantitative PCR during C3H10T1/2 chondrogenic differentiation.

Cappato S, Giacopelli F, Tonachini L, Ravazzolo R, Bocciardi R.

Mol Biol Rep. 2019 Jun;46(3):3477-3485. doi: 10.1007/s11033-019-04713-x. Epub 2019 Mar 7.

4.

Pharmacological Inhibition of the Ubiquitin Ligase RNF5 Rescues F508del-CFTR in Cystic Fibrosis Airway Epithelia.

Sondo E, Falchi F, Caci E, Ferrera L, Giacomini E, Pesce E, Tomati V, Mandrup Bertozzi S, Goldoni L, Armirotti A, Ravazzolo R, Cavalli A, Pedemonte N.

Cell Chem Biol. 2018 Jul 19;25(7):891-905.e8. doi: 10.1016/j.chembiol.2018.04.010. Epub 2018 May 10.

5.

The Horizon of a Therapy for Rare Genetic Diseases: A "Druggable" Future for Fibrodysplasia Ossificans Progressiva.

Cappato S, Giacopelli F, Ravazzolo R, Bocciardi R.

Int J Mol Sci. 2018 Mar 26;19(4). pii: E989. doi: 10.3390/ijms19040989. Review.

6.

Thymosin α-1 does not correct F508del-CFTR in cystic fibrosis airway epithelia.

Tomati V, Caci E, Ferrera L, Pesce E, Sondo E, Cholon DM, Quinney NL, Boyles SE, Armirotti A, Ravazzolo R, Galietta LJ, Gentzsch M, Pedemonte N.

JCI Insight. 2018 Feb 8;3(3). pii: 98699. doi: 10.1172/jci.insight.98699. eCollection 2018 Feb 8. Erratum in: JCI Insight. 2019 Apr 4;4(7):.

7.

High-throughput screening identifies FAU protein as a regulator of mutant cystic fibrosis transmembrane conductance regulator channel.

Tomati V, Pesce E, Caci E, Sondo E, Scudieri P, Marini M, Amato F, Castaldo G, Ravazzolo R, Galietta LJV, Pedemonte N.

J Biol Chem. 2018 Jan 26;293(4):1203-1217. doi: 10.1074/jbc.M117.816595. Epub 2017 Nov 20.

8.

Correction to: Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva.

Ratbi I, Bocciardi R, Regragui A, Ravazzolo R, Sefiani A.

Clin Rheumatol. 2018 Mar;37(3):857. doi: 10.1007/s10067-017-3909-x.

PMID:
29134511
9.

Hints on transcriptional control of essential players in heterotopic ossification of Fibrodysplasia Ossificans Progressiva.

Ravazzolo R, Cappato S, Bocciardi R.

Bone. 2018 Apr;109:187-191. doi: 10.1016/j.bone.2017.10.028. Epub 2017 Oct 31. Review.

PMID:
29100956
10.

Targeting of PHOX2B expression allows the identification of drugs effective in counteracting neuroblastoma cell growth.

Di Zanni E, Bianchi G, Ravazzolo R, Raffaghello L, Ceccherini I, Bachetti T.

Oncotarget. 2017 Aug 4;8(42):72133-72146. doi: 10.18632/oncotarget.19922. eCollection 2017 Sep 22.

11.

Peripheral Blood Mononuclear Cell Immunophenotyping in Fibrodysplasia Ossificans Progressiva Patients: Evidence for Monocyte DNAM1 Up-regulation.

Del Zotto G, Antonini F, Azzari I, Ortolani C, Tripodi G, Giacopelli F, Cappato S, Moretta L, Ravazzolo R, Bocciardi R.

Cytometry B Clin Cytom. 2018 Jul;94(4):613-622. doi: 10.1002/cyto.b.21594. Epub 2017 Nov 15.

12.

Genetic inactivation of mGlu5 receptor improves motor coordination in the Grm1crv4 mouse model of SCAR13 ataxia.

Bossi S, Musante I, Bonfiglio T, Bonifacino T, Emionite L, Cerminara M, Cervetto C, Marcoli M, Bonanno G, Ravazzolo R, Pittaluga A, Puliti A.

Neurobiol Dis. 2018 Jan;109(Pt A):44-53. doi: 10.1016/j.nbd.2017.10.001. Epub 2017 Oct 2.

PMID:
28982591
13.

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
14.

A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2.

Pagani A, Colucci S, Bocciardi R, Bertamino M, Dufour C, Ravazzolo R, Silvestri L, Camaschella C.

Blood. 2017 Jun 22;129(25):3392-3395. doi: 10.1182/blood-2017-03-773481. Epub 2017 May 5. No abstract available.

15.

Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease.

Di Zanni E, Adamo A, Belligni E, Lerone M, Martucciello G, Mattioli G, Pini Prato A, Ravazzolo R, Silengo M, Bachetti T, Ceccherini I.

Biochim Biophys Acta Mol Basis Dis. 2017 Jul;1863(7):1770-1777. doi: 10.1016/j.bbadis.2017.04.017. Epub 2017 Apr 20.

16.

[Transverse reductional anomaly and atypical fibrodysplasia ossificans progressiva: A case diagnosed late].

Paysal J, Sarret C, Merlin E, Ravazzolo R, Bocciardi R, Garcier JM, Monnot S, Laffargue F, Baujat G, Echaubard S.

Arch Pediatr. 2017 Jun;24(6):547-551. doi: 10.1016/j.arcped.2017.03.007. Epub 2017 Apr 14. French.

PMID:
28416432
17.

Phenotypic characterization of Grm1crv4 mice reveals a functional role for the type 1 metabotropic glutamate receptor in bone mineralization.

Musante I, Mattinzoli D, Otescu LA, Bossi S, Ikehata M, Gentili C, Cangemi G, Gatti C, Emionite L, Messa P, Ravazzolo R, Rastaldi MP, Riccardi D, Puliti A.

Bone. 2017 Jan;94:114-123. doi: 10.1016/j.bone.2016.10.025. Epub 2016 Oct 27.

PMID:
27989650
18.

Assessment of copy number variations in 120 patients with Poland syndrome.

Vaccari CM, Tassano E, Torre M, Gimelli S, Divizia MT, Romanini MV, Bossi S, Musante I, Valle M, Senes F, Catena N, Bedeschi MF, Baban A, Calevo MG, Acquaviva M, Lerone M, Ravazzolo R, Puliti A.

BMC Med Genet. 2016 Nov 25;17(1):89.

19.

Goblet Cell Hyperplasia Requires High Bicarbonate Transport To Support Mucin Release.

Gorrieri G, Scudieri P, Caci E, Schiavon M, Tomati V, Sirci F, Napolitano F, Carrella D, Gianotti A, Musante I, Favia M, Casavola V, Guerra L, Rea F, Ravazzolo R, Di Bernardo D, Galietta LJ.

Sci Rep. 2016 Oct 27;6:36016. doi: 10.1038/srep36016.

20.

Correction: High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva.

Cappato S, Tonachini L, Giacopelli F, Tirone M, Galietta LJ, Sormani M, Giovenzana A, Spinelli AE, Canciani B, Brunelli S, Ravazzolo R, Bocciardi R.

Dis Model Mech. 2016 Sep 1;9(9):1067. doi: 10.1242/dmm.027573. No abstract available.

21.

Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva.

Severino M, Bertamino M, Tortora D, Morana G, Uccella S, Bocciardi R, Ravazzolo R, Rossi A, Di Rocco M.

J Med Genet. 2016 Dec;53(12):859-864. doi: 10.1136/jmedgenet-2016-104076. Epub 2016 Aug 26.

PMID:
27565519
22.

WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease.

Covone AE, Fiorillo C, Acquaviva M, Trucco F, Morana G, Ravazzolo R, Minetti C.

Clin Genet. 2016 Aug;90(2):182-5. doi: 10.1111/cge.12730. Epub 2016 Feb 10.

PMID:
27406698
23.

High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva.

Cappato S, Tonachini L, Giacopelli F, Tirone M, Galietta LJ, Sormani M, Giovenzana A, Spinelli AE, Canciani B, Brunelli S, Ravazzolo R, Bocciardi R.

Dis Model Mech. 2016 Jun 1;9(6):685-96. doi: 10.1242/dmm.023929. Epub 2016 Apr 28. Erratum in: Dis Model Mech. 2016 Sep 1;9(9):1067.

24.

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.

25.

Hypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlation.

Fiorio P, Rosaia De Santis L, Cuoco C, Gimelli G, Gastaldi R, Bonatti F, Ravazzolo R, Bocciardi R.

Gynecol Endocrinol. 2016;32(1):14-7. doi: 10.3109/09513590.2015.1106472. Epub 2015 Nov 16.

PMID:
26572316
26.

IL12RB2 Polymorphisms correlate with risk of lung adenocarcinoma.

Prigione I, Covone AE, Giacopelli F, Bocca P, Risso M, Tripodi G, Pistorio A, Sozzi G, Airoldi I, Ravazzolo R, Pistoia V.

Immunobiology. 2016 Feb;221(2):291-9. doi: 10.1016/j.imbio.2015.10.006. Epub 2015 Oct 29.

PMID:
26547104
27.

Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.

Rusmini M, Federici S, Caroli F, Grossi A, Baldi M, Obici L, Insalaco A, Tommasini A, Caorsi R, Gallo E, Olivieri AN, Marzano A, Coviello D, Ravazzolo R, Martini A, Gattorno M, Ceccherini I.

Ann Rheum Dis. 2016 Aug;75(8):1550-7. doi: 10.1136/annrheumdis-2015-207701. Epub 2015 Sep 17.

PMID:
26386126
28.

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.

Panza E, Escamilla-Honrubia JM, Marco-Marín C, Gougeard N, De Michele G, Morra VB, Liguori R, Salviati L, Donati MA, Cusano R, Pippucci T, Ravazzolo R, Németh AH, Smithson S, Davies S, Hurst JA, Bordo D, Rubio V, Seri M.

Brain. 2016 Jan;139(Pt 1):e3. doi: 10.1093/brain/awv247. Epub 2015 Aug 21. No abstract available.

PMID:
26297558
29.

New insights into central nervous system involvement in FOP: Case report and review of the literature.

Bertamino M, Severino M, Schiaffino MC, Garrè ML, Bocciardi R, Ravazzolo R, Rossi A, Di Rocco M.

Am J Med Genet A. 2015 Nov;167A(11):2817-21. doi: 10.1002/ajmg.a.37271. Epub 2015 Aug 4. Review.

PMID:
26239063
30.

Genetic Inhibition Of The Ubiquitin Ligase Rnf5 Attenuates Phenotypes Associated To F508del Cystic Fibrosis Mutation.

Tomati V, Sondo E, Armirotti A, Caci E, Pesce E, Marini M, Gianotti A, Jeon YJ, Cilli M, Pistorio A, Mastracci L, Ravazzolo R, Scholte B, Ronai Z, Galietta LJ, Pedemonte N.

Sci Rep. 2015 Jul 17;5:12138. doi: 10.1038/srep12138.

31.

miR-204 mediates post-transcriptional down-regulation of PHOX2B gene expression in neuroblastoma cells.

Bachetti T, Di Zanni E, Ravazzolo R, Ceccherini I.

Biochim Biophys Acta. 2015 Aug;1849(8):1057-65. doi: 10.1016/j.bbagrm.2015.06.008. Epub 2015 Jul 3.

PMID:
26145533
32.

Upregulation of TMEM16A Protein in Bronchial Epithelial Cells by Bacterial Pyocyanin.

Caci E, Scudieri P, Di Carlo E, Morelli P, Bruno S, De Fino I, Bragonzi A, Gianotti A, Sondo E, Ferrera L, Palleschi A, Santambrogio L, Ravazzolo R, Galietta LJ.

PLoS One. 2015 Jun 29;10(6):e0131775. doi: 10.1371/journal.pone.0131775. eCollection 2015.

33.

Ion channel and lipid scramblase activity associated with expression of TMEM16F/ANO6 isoforms.

Scudieri P, Caci E, Venturini A, Sondo E, Pianigiani G, Marchetti C, Ravazzolo R, Pagani F, Galietta LJ.

J Physiol. 2015 Sep 1;593(17):3829-48. doi: 10.1113/JP270691. Epub 2015 Jul 27.

34.

Identification of novel pathways and molecules able to down-regulate PHOX2B gene expression by in vitro drug screening approaches in neuroblastoma cells.

Di Zanni E, Fornasari D, Ravazzolo R, Ceccherini I, Bachetti T.

Exp Cell Res. 2015 Aug 1;336(1):43-57. doi: 10.1016/j.yexcr.2015.03.025. Epub 2015 Apr 13.

PMID:
25882494
35.

Functional analysis of acid-activated Cl⁻ channels: properties and mechanisms of regulation.

Capurro V, Gianotti A, Caci E, Ravazzolo R, Galietta LJ, Zegarra-Moran O.

Biochim Biophys Acta. 2015 Jan;1848(1 Pt A):105-14.

36.

Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot.

Baban A, Postma AV, Marini M, Trocchio G, Santilli A, Pelegrini M, Sirleto P, Lerone M, Albanese SB, Barnett P, Boogerd CJ, Dallapiccola B, Digilio MC, Ravazzolo R, Pongiglione G.

Am J Med Genet A. 2014 Dec;164A(12):3100-7. doi: 10.1002/ajmg.a.36783. Epub 2014 Sep 26.

PMID:
25263169
37.

Symmetric curvature descriptors for label-free analysis of DNA.

Buzio R, Repetto L, Giacopelli F, Ravazzolo R, Valbusa U.

Sci Rep. 2014 Sep 24;4:6459. doi: 10.1038/srep06459.

38.

Periostin gene variants are associated with disease course and severity in juvenile idiopathic arthritis.

Covone AE, Solari N, Malattia C, Pop V, Martini A, Ravelli A, Ravazzolo R.

Clin Exp Rheumatol. 2014 Sep-Oct;32(5):747-53. Epub 2014 Sep 19.

PMID:
25236364
39.

De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome.

Vaccari CM, Romanini MV, Musante I, Tassano E, Gimelli S, Divizia MT, Torre M, Morovic CG, Lerone M, Ravazzolo R, Puliti A.

BMC Med Genet. 2014 May 30;15:63. doi: 10.1186/1471-2350-15-63.

40.

ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant.

Haupt J, Deichsel A, Stange K, Ast C, Bocciardi R, Ravazzolo R, Di Rocco M, Ferrari P, Landi A, Kaplan FS, Shore EM, Reissner C, Seemann P.

Hum Mol Genet. 2014 Oct 15;23(20):5364-77. doi: 10.1093/hmg/ddu255. Epub 2014 May 22.

41.

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.

J Cell Physiol. 2014 Dec;229(12):2027-37. doi: 10.1002/jcp.24660.

PMID:
24777754
42.

Identification and characterization of regulatory elements in the promoter of ACVR1, the gene mutated in Fibrodysplasia Ossificans Progressiva.

Giacopelli F, Cappato S, Tonachini L, Mura M, Di Lascio S, Fornasari D, Ravazzolo R, Bocciardi R.

Orphanet J Rare Dis. 2013 Sep 18;8:145. doi: 10.1186/1750-1172-8-145.

43.

Non-canonical translation start sites in the TMEM16A chloride channel.

Sondo E, Scudieri P, Tomati V, Caci E, Mazzone A, Farrugia G, Ravazzolo R, Galietta LJ.

Biochim Biophys Acta. 2014 Jan;1838(1 Pt B):89-97. doi: 10.1016/j.bbamem.2013.08.010. Epub 2013 Aug 28.

44.

Mutations in DSTYK and dominant urinary tract malformations.

Sanna-Cherchi S, Sampogna RV, Papeta N, Burgess KE, Nees SN, Perry BJ, Choi M, Bodria M, Liu Y, Weng PL, Lozanovski VJ, Verbitsky M, Lugani F, Sterken R, Paragas N, Caridi G, Carrea A, Dagnino M, Materna-Kiryluk A, Santamaria G, Murtas C, Ristoska-Bojkovska N, Izzi C, Kacak N, Bianco B, Giberti S, Gigante M, Piaggio G, Gesualdo L, Vukic DK, Vukojevic K, Saraga-Babic M, Saraga M, Gucev Z, Allegri L, Latos-Bielenska A, Casu D, State M, Scolari F, Ravazzolo R, Kiryluk K, Al-Awqati Q, D'Agati VD, Drummond IA, Tasic V, Lifton RP, Ghiggeri GM, Gharavi AG.

N Engl J Med. 2013 Aug 15;369(7):621-9. doi: 10.1056/NEJMoa1214479. Epub 2013 Jul 17.

45.

Epithelial sodium channel silencing as a strategy to correct the airway surface fluid deficit in cystic fibrosis.

Gianotti A, Melani R, Caci E, Sondo E, Ravazzolo R, Galietta LJ, Zegarra-Moran O.

Am J Respir Cell Mol Biol. 2013 Sep;49(3):445-52. doi: 10.1165/rcmb.2012-0408OC.

PMID:
23600628
46.

TMEM16A-TMEM16B chimaeras to investigate the structure-function relationship of calcium-activated chloride channels.

Scudieri P, Sondo E, Caci E, Ravazzolo R, Galietta LJ.

Biochem J. 2013 Jun 15;452(3):443-55. doi: 10.1042/BJ20130348.

PMID:
23570556
47.

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.

PLoS One. 2013;8(3):e59066. doi: 10.1371/journal.pone.0059066. Epub 2013 Mar 18. Erratum in: PLoS One. 2013;8(4). doi:10.1371/annotation/d3a96ff5-2a66-4454-8d8d-932ad4cfe906.

48.

EEC- and ADULT-associated TP63 mutations exhibit functional heterogeneity toward P63 responsive sequences.

Monti P, Russo D, Bocciardi R, Foggetti G, Menichini P, Divizia MT, Lerone M, Graziano C, Wischmeijer A, Viadiu H, Ravazzolo R, Inga A, Fronza G.

Hum Mutat. 2013 Jun;34(6):894-904. doi: 10.1002/humu.22304. Epub 2013 Apr 2.

PMID:
23463580
49.

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
50.

The role of the 3'UTR region in the regulation of the ACVR1/Alk-2 gene expression.

Mura M, Cappato S, Giacopelli F, Ravazzolo R, Bocciardi R.

PLoS One. 2012;7(12):e50958. doi: 10.1371/journal.pone.0050958. Epub 2012 Dec 5.

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