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Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intronic Variant in the AMN Gene: A Case Report.

Pacitto A, Prontera P, Stangoni G, Stefanelli M, Ceppi S, Cerri C, Gurdo G, Mencarelli A, Esposito S.

Int J Mol Sci. 2019 Jan 27;20(3). pii: E527. doi: 10.3390/ijms20030527.


Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T>A]+[=]"; "p.[Leu1956Gln]+[=]" NSD1 Missense Mutation and Complex Skin Hamartoma.

Mencarelli A, Prontera P, Mencarelli A, Rogaia D, Stangoni G, Cecconi M, Esposito S.

Int J Mol Sci. 2018 Oct 16;19(10). pii: E3189. doi: 10.3390/ijms19103189.


Report of a Novel SHOX Missense Variant in a Boy With Short Stature and His Mother With Leri-Weill Dyschondrosteosis.

Lucchetti L, Prontera P, Mencarelli A, Sallicandro E, Mencarelli A, Cofini M, Leonardi A, Stangoni G, Penta L, Esposito S.

Front Endocrinol (Lausanne). 2018 Apr 10;9:163. doi: 10.3389/fendo.2018.00163. eCollection 2018.


Calcineurin-mediated IL-2 production by CD11chighMHCII+ myeloid cells is crucial for intestinal immune homeostasis.

Mencarelli A, Khameneh HJ, Fric J, Vacca M, El Daker S, Janela B, Tang JP, Nabti S, Balachander A, Lim TS, Ginhoux F, Ricciardi-Castagnoli P, Mortellaro A.

Nat Commun. 2018 Mar 16;9(1):1102. doi: 10.1038/s41467-018-03495-3.


Calcineurin B in CD4+ T Cells Prevents Autoimmune Colitis by Negatively Regulating the JAK/STAT Pathway.

Mencarelli A, Vacca M, Khameneh HJ, Acerbi E, Tay A, Zolezzi F, Poidinger M, Mortellaro A.

Front Immunol. 2018 Feb 19;9:261. doi: 10.3389/fimmu.2018.00261. eCollection 2018.


Genetic and Pharmacological Dissection of the Role of Spleen Tyrosine Kinase (Syk) in Intestinal Inflammation and Immune Dysfunction in Inflammatory Bowel Diseases.

Biagioli M, Mencarelli A, Carino A, Cipriani S, Marchianò S, Fiorucci C, Donini A, Graziosi L, Baldelli F, Distrutti E, Costantino G, Fiorucci S.

Inflamm Bowel Dis. 2017 Dec 19;24(1):123-135. doi: 10.1093/ibd/izx031.


Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature.

Mencarelli A, Prontera P, Stangoni G, Mencaroni E, Principi N, Esposito S.

Int J Mol Sci. 2017 Oct 29;18(11). pii: E2273. doi: 10.3390/ijms18112273. Review.


Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism.

Cinque L, Sparaneo A, Penta L, Mencarelli A, Rogaia D, Esposito S, Fabrizio FP, Baorda F, Verrotti A, Falorni A, Stangoni G, Hendy GN, Guarnieri V, Prontera P.

J Clin Endocrinol Metab. 2017 Nov 1;102(11):3961-3969. doi: 10.1210/jc.2017-00250.


Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature.

Prontera P, Rogaia D, Mencarelli A, Ottaviani V, Sallicandro E, Guercini G, Esposito S, Bersano A, Merla G, Stangoni G.

Int J Mol Sci. 2017 Sep 17;18(9). pii: E1998. doi: 10.3390/ijms18091998. Review.


QF-PCR and MLPA: a reliable molecular system to detect chromosomal alterations in miscarriages.

Isidori I, Spapperi C, Barbati A, Mencarelli A, Stangoni G.

Clin Exp Obstet Gynecol. 2017;44(2):220-225.


A Clinical and Molecular Survey of 62 Cystic Fibrosis Patients from Umbria (Central Italy) Disclosing a High Frequency (2.4%) of the 2184insA Allele: Implications for Screening.

Prontera P, Isidori I, Mencarini V, Pennoni G, Mencarelli A, Stangoni G, Di Cara G, Verrotti A.

Public Health Genomics. 2016;19(6):336-341. doi: 10.1159/000450849. Epub 2016 Oct 12.


Highly specific blockade of CCR5 inhibits leukocyte trafficking and reduces mucosal inflammation in murine colitis.

Mencarelli A, Cipriani S, Francisci D, Santucci L, Baldelli F, Distrutti E, Fiorucci S.

Sci Rep. 2016 Aug 5;6:30802. doi: 10.1038/srep30802.


A novel MED12 mutation: Evidence for a fourth phenotype.

Prontera P, Ottaviani V, Rogaia D, Isidori I, Mencarelli A, Malerba N, Cocciadiferro D, Rolph P, Stangoni G, Vulto-van Silfhout A, Merla G.

Am J Med Genet A. 2016 Sep;170(9):2377-82. doi: 10.1002/ajmg.a.37805. Epub 2016 Jun 17. Review.


Impaired calcineurin signaling in myeloid cells results in downregulation of pentraxin-3 and increased susceptibility to aspergillosis.

Zelante T, Wong AY, Mencarelli A, Foo S, Zolezzi F, Lee B, Poidinger M, Ricciardi-Castagnoli P, Fric J.

Mucosal Immunol. 2017 Mar;10(2):470-480. doi: 10.1038/mi.2016.52. Epub 2016 Jun 15.


Validation of calculation algorithms for organ doses in CT by measurements on a 5 year old paediatric phantom.

Dabin J, Mencarelli A, McMillan D, Romanyukha A, Struelens L, Lee C.

Phys Med Biol. 2016 Jun 7;61(11):4168-82. doi: 10.1088/0031-9155/61/11/4168. Epub 2016 May 18.


Local interfractional setup reproducibility for 2 individual head and neck supports in head and neck cancer patients.

van Beek S, Mencarelli A, Remeijer P, Sonke JJ, Rasch CR.

Pract Radiat Oncol. 2014 Nov-Dec;4(6):448-54. doi: 10.1016/j.prro.2014.02.002. Epub 2014 Mar 26.


Deformable image registration for adaptive radiation therapy of head and neck cancer: accuracy and precision in the presence of tumor changes.

Mencarelli A, van Kranen SR, Hamming-Vrieze O, van Beek S, Nico Rasch CR, van Herk M, Sonke JJ.

Int J Radiat Oncol Biol Phys. 2014 Nov 1;90(3):680-7. doi: 10.1016/j.ijrobp.2014.06.045. Epub 2014 Aug 20.


Automatic detection system for multiple region of interest registration to account for posture changes in head and neck radiotherapy.

Mencarelli A, van Beek S, Zijp LJ, Rasch C, van Herk M, Sonke JJ.

Phys Med Biol. 2014 Apr 21;59(8):2005-21. doi: 10.1088/0031-9155/59/8/2005. Epub 2014 Apr 2.


CCR5 Antagonism by Maraviroc Reduces the Potential for Gastric Cancer Cell Dissemination.

Mencarelli A, Graziosi L, Renga B, Cipriani S, D'Amore C, Francisci D, Bruno A, Baldelli F, Donini A, Fiorucci S.

Transl Oncol. 2013 Dec 1;6(6):784-93. eCollection 2013 Dec 1.


Solomonsterol A, a marine pregnane-X-receptor agonist, attenuates inflammation and immune dysfunction in a mouse model of arthritis.

Mencarelli A, D'Amore C, Renga B, Cipriani S, Carino A, Sepe V, Perissutti E, D'Auria MV, Zampella A, Distrutti E, Fiorucci S.

Mar Drugs. 2013 Dec 24;12(1):36-53. doi: 10.3390/md12010036.


In vivo administration of ritonavir worsens intestinal damage caused by cyclooxygease inhibitors.

Renga B, Mencarelli A, Cipriani S, D'Amore C, Francisci D, Santucci L, Baldelli F, Distrutti E, Fiorucci S.

Eur J Pharmacol. 2014 Jan 15;723:194-201. doi: 10.1016/j.ejphar.2013.11.035. Epub 2013 Dec 4.


Adaptive radiotherapy with an average anatomy model: evaluation and quantification of residual deformations in head and neck cancer patients.

van Kranen S, Mencarelli A, van Beek S, Rasch C, van Herk M, Sonke JJ.

Radiother Oncol. 2013 Dec;109(3):463-8. doi: 10.1016/j.radonc.2013.08.007. Epub 2013 Sep 7.


FXR mediates a chromatin looping in the GR promoter thus promoting the resolution of colitis in rodents.

Renga B, D'Amore C, Cipriani S, Mencarelli A, Carino A, Sepe V, Zampella A, Distrutti E, Fiorucci S.

Pharmacol Res. 2013 Nov;77:1-10. doi: 10.1016/j.phrs.2013.08.008. Epub 2013 Sep 1.


Dissociation of intestinal and hepatic activities of FXR and LXRα supports metabolic effects of terminal ileum interposition in rodents.

Mencarelli A, Renga B, D'Amore C, Santorelli C, Graziosi L, Bruno A, Monti MC, Distrutti E, Cipriani S, Donini A, Fiorucci S.

Diabetes. 2013 Oct;62(10):3384-93. doi: 10.2337/db13-0299. Epub 2013 Jul 8.


Aicardi syndrome associated with autosomal genomic imbalance: coincidence or evidence for autosomal inheritance with sex-limited expression?

Prontera P, Bartocci A, Ottaviani V, Isidori I, Rogaia D, Ardisia C, Guercini G, Mencarelli A, Donti E.

Mol Syndromol. 2013 Apr;4(4):197-202. doi: 10.1159/000350040. Epub 2013 Apr 11.


Probiotics VSL#3 protect against development of visceral pain in murine model of irritable bowel syndrome.

Distrutti E, Cipriani S, Mencarelli A, Renga B, Fiorucci S.

PLoS One. 2013 May 15;8(5):e63893. doi: 10.1371/journal.pone.0063893. Print 2013.


Efficacy of the CCR5 antagonist maraviroc in reducing early, ritonavir-induced atherogenesis and advanced plaque progression in mice.

Cipriani S, Francisci D, Mencarelli A, Renga B, Schiaroli E, D'Amore C, Baldelli F, Fiorucci S.

Circulation. 2013 May 28;127(21):2114-24. doi: 10.1161/CIRCULATIONAHA.113.001278. Epub 2013 Apr 30.


The bile acid sensor FXR is required for immune-regulatory activities of TLR-9 in intestinal inflammation.

Renga B, Mencarelli A, Cipriani S, D'Amore C, Carino A, Bruno A, Francisci D, Zampella A, Distrutti E, Fiorucci S.

PLoS One. 2013;8(1):e54472. doi: 10.1371/journal.pone.0054472. Epub 2013 Jan 25.


Validation of deformable registration in head and neck cancer using analysis of variance.

Mencarelli A, van Beek S, van Kranen S, Rasch C, van Herk M, Sonke JJ.

Med Phys. 2012 Nov;39(11):6879-84. doi: 10.1118/1.4760990.


VSL#3 resets insulin signaling and protects against NASH and atherosclerosis in a model of genetic dyslipidemia and intestinal inflammation.

Mencarelli A, Cipriani S, Renga B, Bruno A, D'Amore C, Distrutti E, Fiorucci S.

PLoS One. 2012;7(9):e45425. doi: 10.1371/journal.pone.0045425. Epub 2012 Sep 21.


Epigenetic modulation by methionine deficiency attenuates the potential for gastric cancer cell dissemination.

Graziosi L, Mencarelli A, Renga B, D'Amore C, Bruno A, Santorelli C, Cavazzoni E, Cantarella F, Rosati E, Donini A, Fiorucci S.

J Gastrointest Surg. 2013 Jan;17(1):39-49; discussion p. 49. doi: 10.1007/s11605-012-1996-1. Epub 2012 Sep 5.


Plakilactones from the marine sponge Plakinastrella mamillaris. Discovery of a new class of marine ligands of peroxisome proliferator-activated receptor γ.

Festa C, Lauro G, De Marino S, D'Auria MV, Monti MC, Casapullo A, D'Amore C, Renga B, Mencarelli A, Petek S, Bifulco G, Fiorucci S, Zampella A.

J Med Chem. 2012 Oct 11;55(19):8303-17. doi: 10.1021/jm300911g. Epub 2012 Sep 19.


Activation of the bile acid receptor GPBAR1 protects against gastrointestinal injury caused by non-steroidal anti-inflammatory drugs and aspirin in mice.

Cipriani S, Mencarelli A, Bruno A, Renga B, Distrutti E, Santucci L, Baldelli F, Fiorucci S.

Br J Pharmacol. 2013 Jan;168(1):225-37. doi: 10.1111/j.1476-5381.2012.02128.x.


Farnesoid X receptor: from medicinal chemistry to clinical applications.

Fiorucci S, Mencarelli A, Distrutti E, Zampella A.

Future Med Chem. 2012 May;4(7):877-91. doi: 10.4155/fmc.12.41. Review.


The HIV matrix protein p17 subverts nuclear receptors expression and induces a STAT1-dependent proinflammatory phenotype in monocytes.

Renga B, Francisci D, D'Amore C, Schiaroli E, Mencarelli A, Cipriani S, Baldelli F, Fiorucci S.

PLoS One. 2012;7(4):e35924. doi: 10.1371/journal.pone.0035924. Epub 2012 Apr 30.


Glucocorticoid receptor mediates the gluconeogenic activity of the farnesoid X receptor in the fasting condition.

Renga B, Mencarelli A, D'Amore C, Cipriani S, Baldelli F, Zampella A, Distrutti E, Fiorucci S.

FASEB J. 2012 Jul;26(7):3021-31. doi: 10.1096/fj.11-195701. Epub 2012 Mar 23.


Heat shock proteins as key biological targets of the marine natural cyclopeptide perthamide C.

Margarucci L, Monti MC, Mencarelli A, Cassiano C, Fiorucci S, Riccio R, Zampella A, Casapullo A.

Mol Biosyst. 2012 Apr;8(5):1412-7. doi: 10.1039/c2mb05507d. Epub 2012 Feb 10.


Ritonavir-induced lipoatrophy and dyslipidaemia is reversed by the anti-inflammatory drug leflunomide in a PPAR-γ-dependent manner.

Mencarelli A, Francisci D, Renga B, D'Amore C, Cipriani S, Basile F, Schiaroli E, Baldelli F, Fiorucci S.

Antivir Ther. 2012;17(4):669-78. doi: 10.3851/IMP2039. Epub 2012 Jan 25.


Discovery that theonellasterol a marine sponge sterol is a highly selective FXR antagonist that protects against liver injury in cholestasis.

Renga B, Mencarelli A, D'Amore C, Cipriani S, D'Auria MV, Sepe V, Chini MG, Monti MC, Bifulco G, Zampella A, Fiorucci S.

PLoS One. 2012;7(1):e30443. doi: 10.1371/journal.pone.0030443. Epub 2012 Jan 23.


4-Methylenesterols from Theonella swinhoei sponge are natural pregnane-X-receptor agonists and farnesoid-X-receptor antagonists that modulate innate immunity.

De Marino S, Ummarino R, D'Auria MV, Chini MG, Bifulco G, D'Amore C, Renga B, Mencarelli A, Petek S, Fiorucci S, Zampella A.

Steroids. 2012 Apr;77(5):484-95. doi: 10.1016/j.steroids.2012.01.006. Epub 2012 Jan 20.


Molecular determinants of gastrointestinal and liver cancers: role of bile acid activated nuclear receptors.

Renga B, Mencarelli A, Cipriani S, Distrutti E.

Curr Top Med Chem. 2012;12(6):625-36. Review.


Gene expression changes induced by HIPEC in a murine model of gastric cancer.

Graziosi L, Mencarelli A, Renga B, Santorelli C, Cantarella F, Bugiantella W, Cavazzoni E, Donini A, Fiorucci S.

In Vivo. 2012 Jan-Feb;26(1):39-45.


Mechanistic role of p38 MAPK in gastric cancer dissemination in a rodent model peritoneal metastasis.

Graziosi L, Mencarelli A, Santorelli C, Renga B, Cipriani S, Cavazzoni E, Palladino G, Laufer S, Burnet M, Donini A, Fiorucci S.

Eur J Pharmacol. 2012 Jan 15;674(2-3):143-52. doi: 10.1016/j.ejphar.2011.11.015. Epub 2011 Nov 19.


The bile acid receptor GPBAR-1 (TGR5) modulates integrity of intestinal barrier and immune response to experimental colitis.

Cipriani S, Mencarelli A, Chini MG, Distrutti E, Renga B, Bifulco G, Baldelli F, Donini A, Fiorucci S.

PLoS One. 2011;6(10):e25637. doi: 10.1371/journal.pone.0025637. Epub 2011 Oct 27. Erratum in: PLoS One. 2013;8(1). doi:10.1371/annotation/55febddb-0209-4a48-9c14-23df882126a2.


Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.

Prontera P, Garelli E, Isidori I, Mencarelli A, Carando A, Silengo MC, Donti E.

Am J Med Genet A. 2011 Nov;155A(11):2746-9. doi: 10.1002/ajmg.a.34270. Epub 2011 Oct 11.


FXR activation improves myocardial fatty acid metabolism in a rodent model of obesity-driven cardiotoxicity.

Mencarelli A, Cipriani S, Renga B, D'Amore C, Palladino G, Distrutti E, Baldelli F, Fiorucci S.

Nutr Metab Cardiovasc Dis. 2013 Feb;23(2):94-101. doi: 10.1016/j.numecd.2011.06.008. Epub 2011 Sep 15.


Probiotics modulate intestinal expression of nuclear receptor and provide counter-regulatory signals to inflammation-driven adipose tissue activation.

Mencarelli A, Distrutti E, Renga B, D'Amore C, Cipriani S, Palladino G, Donini A, Ricci P, Fiorucci S.

PLoS One. 2011;6(7):e22978. doi: 10.1371/journal.pone.0022978. Epub 2011 Jul 29.


Inhibition of NF-κB by a PXR-dependent pathway mediates counter-regulatory activities of rifaximin on innate immunity in intestinal epithelial cells.

Mencarelli A, Renga B, Palladino G, Claudio D, Ricci P, Distrutti E, Barbanti M, Baldelli F, Fiorucci S.

Eur J Pharmacol. 2011 Oct 1;668(1-2):317-24. doi: 10.1016/j.ejphar.2011.06.058. Epub 2011 Jul 26.


The nuclear receptor FXR regulates hepatic transport and metabolism of glutamine and glutamate.

Renga B, Mencarelli A, Cipriani S, D'Amore C, Zampella A, Monti MC, Distrutti E, Fiorucci S.

Biochim Biophys Acta. 2011 Nov;1812(11):1522-31. doi: 10.1016/j.bbadis.2011.06.009. Epub 2011 Jul 1.


Farnesoid X receptor agonist for the treatment of liver and metabolic disorders: focus on 6-ethyl-CDCA.

Fiorucci S, Cipriani S, Mencarelli A, Baldelli F, Bifulco G, Zampella A.

Mini Rev Med Chem. 2011 Aug;11(9):753-62.


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