Ramos-Rodríguez M, Subirana-Granés M, Norris R, Sordi V, Fernández Á, Fuentes-Páez G, Pérez-González B, Berenguer Balaguer C, Raurell-Vila H, Chowdhury M, Corripio R, Partelli S, López-Bigas N, Pellegrini S, Montanya E, Nacher M, Falconi M, Layer R, Rovira M, González-Pérez A, Piemonti L, Pasquali L.

Implications of noncoding regulatory functions in the development of insulinomas. Cell Genomics 2024 Jul 2:100604. doi: 10.1016/j.xgen.2024.100604.

Fernández Á, Casamitjana J, Holguín-Horcajo A, Coolens K, Mularoni L, Guo L, Hartwig O, Düking T, Vidal N, Strickland LN, Pasquali L, Bailey-Lundberg JM, Rooman I, Wang YJ, Rovira M.

A Single-Cell Atlas of the Murine Pancreatic Ductal Tree Identifies Novel Cell Populations With Potential Implications in Pancreas Regeneration and Exocrine Pathogenesis. Gastroenterology. 2024 Jun 21:S0016-5085(24)05063-7. doi: 10.1053/j.gastro.2024.06.008.

Sarkar S., Deiter C., Kyle J.E., Guney M.A., Sarbaugh D., Yin R., Li X., Cui Y., Ramos-Rodriguez M., Nicora C.D., Syed F., Juan-Mateu J., Muralidharan C., Pasquali L., Evans-Molina C., Eizirik D.L., Webb-Robertson B. M., Burnum-Johnson K., Orr G., Laskin J., Metz T.O., Mirmira R.G., Sussel L., Ansong C., Nakayasu E.

Regulation of β-cell death by ADP-ribosylhydrolase ARH3 via lipid signaling in insulitis Cell Commun. Signal. 2024 Feb 22;141. doi: 10.1186/s12964-023-01437-1

Fontcuberta-PiSunyer M, García-Alamán A, Prades È, Téllez N, Alves-Figueiredo H, Ramos-Rodríguez M, Enrich C, Fernandez-Ruiz R, Cervantes S, Clua L, Ramón-Azcón J, Broca C, Wojtusciszyn A, Montserrat N, Pasquali L, Novials A, Servitja JM, Vidal J, Gomis R, Gasa R.

Direct reprogramming of human fibroblasts into insulin-producing cells using transcription factors. Commun Biol. 2023 Mar 24;6(1):256. doi: 10.1038/s42003-023-04627-2.

Corujo D, Malinverni R, Carrillo-Reixach J, Meers O, Garcia-Jaraquemada A, Le Pannérer M, Valero V, Pérez A, Del Río-Álvarez A, Royo L, Pérez-González B, Raurell H, Acemel R, Santos-Pereira JM, Garrido-Pontnou M, Gómez-Skarmeta JL, Pasquali L, Manyé J, Armengol C,  Buschbeck M

MacroH2As regulate enhancer-promoter contacts affecting enhancer activity and sensitivity to inflammatory cytokines Cell Reports 2022 Jun 21;39(12):110988. doi: 10.1016/j.celrep.2022.110988.

Arroyo N, Villamayor L, Díaz I, Carmona R, Ramos-Rodríguez M, Muñoz-Chápuli R, Pasquali L, Toscano MG, Martín F, Cano DA, Rojas A.

GATA4 induces liver fibrosis regression by deactivating hepatic stellate cells. JCI Insight 2021 Dec 8;6(23):e150059. doi: 10.1172/jci.insight.150059.

Ramos-Rodríguez M, Subirana-Granés M, Pasquali L.

UMI4Cats: an R package to analyze chromatin contact profiles obtained by UMI-4C

Bioinformatics 2021 doi: 10.1093/bioinformatics/btab392

Colli ML, Ramos-Rodríguez M, Nakayasu ES, Alvelos MI, Lopes M, Hill JLE, Turatsinze JV, Coomans de Brachène A, Russell MA, Raurell-Vila H, Castela A, Juan-Mateu J, Webb-Robertson BM, Krogvold L, Dahl-Jorgensen K, Marselli L, Marchetti P, Richardson SJ, Morgan NG, Metz TO, Pasquali L, Eizirik DL.

An integrated multi-omics approach identifies the landscape of interferon-α-mediated responses of human pancreatic beta cells.
Nat Commun. 2020 May 22;11(1):2584. doi: 10.1038/s41467-020-16327-0.

Bueno-Costa A, Piñeyro D, Soler M, Javierre BM, Raurell-Vila H, Subirana-Granés M, Pasquali L, Martinez-Climent JA, Esteller M.

B-cell leukemia transdifferentiation to macrophage involves reconfiguration of DNA methylation for long-range regulation. Leukemia. 2020 Apr;34(4):1158-1162. doi: 10.1038/s41375-019-0643-1.

Ramos-Rodríguez M, Raurell-Villa H, Colli ML, Alvelos M, Subirana-Granes M, Juan-Mateu J, Norris R, Turatsinze JV, Nakayasu E, Webb-Robertson BJ, Inshaw J, Marchetti P, Piemonti L, Esteller M, Todd JA, Metz TO, Eizirik DL, Pasquali L.

The impact of pro-inflammatory cytokines on the β-cell regulatory landscape provides insights into the genetics of type 1 diabetes. Nature Genetics 2019 doi:10.1038/s41588-019-0524-6

Miguel-Escalada I, Bonàs-Guarch S, Cebola I, Ponsa-Cobas J, Mendieta-Esteban J, Atla G, Javierre BM, Rolando DMY, Farabella I, Morgan CC, García-Hurtado J, Beucher A, Morán I, Pasquali L, Ramos-Rodríguez M, Appel EVR, Linneberg A, Gjesing AP, Witte DR, Pedersen O, Grarup N, Ravassard P, Torrents D, Mercader JM, Piemonti L, Berney T, de Koning EJP, Kerr-Conte J, Pattou F, Fedko IO, Groop L, Prokopenko I, Hansen T, Marti-Renom MA, Fraser P, Ferrer J.

Human pancreatic islet three-dimensional chromatin architecture provides insights into the genetics of type 2 diabetes. Nature Genetics 51-7, pp 1137-1148 2019

Kameswaran V, Golson M, Ramos-Rodríguez M, Ou K, Wang YJ, Zhang J, Pasquali L, Kaestner KH

The Dysregulation of the DLK1-MEG3 Locus in Islets From Type 2 Diabetics is Mimicked by Targeted Epimutation of its Promoter with TALE-DNMT Constructs. Diabetes 2018.

Mularoni L, Ramos-Rodríguez M and Pasquali L.

The Pancreatic Islet Regulome Browser. Frontiers in Genetics. 8 13 2017.

Akerman I, Tu Z, Beucher A, Rolando DM, Sauty-Colace C, Benazra M, Nakic N, Yang J, Wang H, Pasquali L, Moran I, Garcia-Hurtado J, Castro N, Gonzalez-Franco R, Stewart AF, Bonner C, Piemonti L, Berney T, Groop L, Kerr-Conte J, Pattou F, Argmann C, Schadt E, Ravassard P, FerrerJ.

Human Pancreatic β Cell lncRNAs Control Cell-Specific Regulatory Networks. Cell Metabolism 25-2, pp. 400-411 2017.

Horikoshi M, Pasquali L, Wiltshire S, Huyghe JR, Mahajan A, Asimit JL, Ferreira T, Locke AE, Robertson NR, Wang X, Sim X, Fujita H, Hara K, Young R, Zhang W, Choi S, Chen H, Kaur I, Takeuchi F, Fontanillas P, Thuillier D, Yengo L, Below JE, Tam CH, Wu Y, Abecasis G, Altshuler D, Bell GI, Blangero J, Burtt NP, Duggirala R, Florez JC, Hanis CL, Seielstad M, Atzmon G, Chan JC, Ma RC, Froguel P, Wilson JG, Bharadwaj D, Dupuis J, Meigs JB, Cho YS, Park T, Kooner JS, Chambers JC, Saleheen D, Kadowaki T, Tai ES, Mohlke KL, Cox NJ, Ferrer J, Zeggini E, Kato N, Teo YY, Boehnke M, McCarthy MI, Morris AP; T2D-GENES Consortium.

Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms. Hum Mol Genet. 25-10, pp. 2070-81 2016.

Cebola I, Rodríguez-Seguí SA, Cho CH, Bessa J, Rovira M, Luengo M, Chhatriwala M, Berry A, Ponsa-Cobas J, Maestro MA, Jennings RE, Pasquali L, Morán I, Castro N, Hanley NA, Gomez-Skarmeta JL, Vallier L, Ferrer J.

TEAD and YAP regulate the enhancer network of human embryonic pancreatic progenitors. Nature Cell Biology 17-5, pp. 615-26 2015.

Gaulton KJ, Ferreira T, Lee Y, Raimondo A, Mägi R, Reschen ME, Mahajan A, Locke A, William Rayner N, Robertson N, [...] Birney E, Pasquali L, Ferrer J, Loos RJ, Dupuis J, Florez JC, Boerwinkle E, Pankow JS, van Duijn C, Sijbrands E, Meigs JB, Hu FB, PJ, Frayling TM, Hattersley AT, [...]McCarthy MI, Morris AP; DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium.

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci. Nature Genetics 47-12, pp. 1415-25 2015.

Pasquali L, Gaulton KJ, Rodríguez-Seguí SA, Mularoni L, Miguel-Escalada I, Akerman I, Tena JJ, Morán I, Gómez-Marín C, van de Bunt M, Ponsa-Cobas J, Castro N, Nammo T, Cebola I, García-Hurtado J, Maestro MA, Pattou F, Piemonti L, Berney T, Gloyn AL, Ravassard P, Gómez-Skarmeta JL, Müller F, McCarthy MI, Ferrer J.

Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants. Nature Genetics. 46-2, pp. 136-43 2014.

Aloi C, Salina A, Pasquali L, Lugani F, Perri K, Russo C, Tallone R, Ghiggeri GM, Lorini R, d'Annunzio G.

Wolfram syndrome: New mutations, different phenotype. PLoS ONE. 7-1, 2012.

Morán I, Akerman I, van de Bunt M, Xie R, Benazra M, Nammo T, Arnes L, Nakić N, García-Hurtado J, Rodríguez-Seguí S, Pasquali L, Sauty-Colace C, Beucher A, Scharfmann R, van Arensbergen J, Johnson PR, Berry A, Lee C, Harkins T, Gmyr V, Pattou F, Kerr-Conte J, Piemonti L, Berney T, Hanley N, Gloyn AL, Sussel L, Langman L, Brayman KL, Sander M, McCarthy MI, Ravassard P, Ferrer J.

Human beta cell transcriptome analysis uncovers lncRNAs that are tissue-specific, dynamically regulated, and abnormally expressed in type 2 diabetes. Cell Metabolism. 16-4, pp. 435-448. 2012.

Salina A, Aloi C, Pasquali L, Mascagni A, Cassanello M, Tallone R, Lugani F, Lorini R, d'Annunzio G.

Clinical application of best practice guidelines for genetic diagnosis of MODY2 and MODY3. Diabetes Research Clinical Practice. 95-2, pp. 29 - 30. 2012.

Gaulton KJ*, Nammo T*, Pasquali L*, Simon JM, Giresi PG, Fogarty MP, Panhuis TM, Mieczkowski P, Secchi A, Bosco D, Berney T, Montanya E, Mohlke KL, Lieb JD, Ferrer J.

A map of open chromatin in human  pancreatic islets. Nature Genetics. 42-3, pp. 255-59. 2010. * Equal contribution.

Salina A.; Pasquali L.; Concetta A.; Lugani F.; d'Annunzio G.; Renata R..

Neonatal diabetes caused by pancreatic agenesia: Which other genes should be used for diagnosis?. Diabetes Care. 33-8, 2010.

Pasquali L, d'Annunzio G, Gastaldi R, Battista ED, Calcaterra V, Larizza D, R. Lorini R, D'Amato E.

Collectrin gene screening in Turner syndrome patients with kidney malformation. Journal of Genetics. 88-1, pp. 105-108. 2009.

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

Association of alleles at polymorphic sites in the osteopontin encoding gene in young type 1 diabetic patients. Clinical Immunology. 131-1, pp. 84-91. 2009.

d'Annunzio G, Minuto N, D'Amato E, De Toni T, F. Lombardo F, Pasquali L, Lorini R.

Wolfram syndrome (diabetes insipidus, diabetes, optic atrophy, and deafness): Clinical and genetic study. Diabetes Care. 31-9, pp. 1743-1745. 2008.

Pasquali L, Bedeir A, Ringquist S, Styche A, Bhargava R, Trucco G.

Quantification of CpG island methylation in progressive breast lesions from normal to invasive carcinoma. Cancer Letters. 257-1, pp. 136-144. 2007.

M. Di Duca; R. Oleggini; S. Sanna-Cherchi; L. Pasquali; A. Di Donato; S. Parodi; R. Bertelli; G. Caridi; G. Frasca; G. Cerullo; A. Amoroso; F.P. Schena; F. Scolari; G.M. Ghiggeri.

Cis and trans regulatory elements in NPHS2 promoter: Implications in proteinuria and progression of renal diseases. Kidney International. 70-7, pp. 1332-1341. 2006.

Ramos-Rodríguez M., Pérez-González B., Pasquali, L. 

The β-Cell Genomic Landscape in T1D: Implications for Disease Pathogenesis.
Curr Diab Rep 21, 1 (2021)

Eizirik DL, Pasquali L, Cnop M.

Pancreatic β-cells in type 1 and type 2 diabetes mellitus: different pathways to failure.
Nat Rev Endocrinol. 2020 May 12. doi: 10.1038/s41574-020-0355-7

Raurell-Vila H, Ramos-Rodríguez M, Pasquali L

Assay for Transposase Accessible Chromatin (ATAC-Seq) to Chart the Open Chromatin Landscape of Human Pancreatic Islets.
Chapter in: CpG islands, Methods Molecular Biology. 1766:197-208. 2018

I. Cebola; L. Pasquali.

Non-coding genome functions in diabetes. J Mol Endocrinol. JME-15-0197 2015

I. Miguel-Escalada; L. Pasquali; J Ferrer.

Transcriptional enhancers: functional insights and role in human disease. Curr Opin Genet Dev. 30 - 33, pp. 71-76 2015.

C. Ling, L. Pasquali
Epigenetics in type 2 diabetes
Chapter in: The Genetics of Type 2 Diabetes and Related Traits Biology, Physiology and Translation, (Springer), 2015

L. Pasquali; N. Giannoukakis; M. Trucco.

Induction of immune tolerance to facilitate beta cell regeneration in type 1 diabetes. Advanced Drug Delivery Reviews. 60 - 2, pp. 106 - 113. 2008.

L. Pasquali; M. Trucco; S. Ringquist.

Navigating pathways affecting type 1 diabetic kidney disease. Pediatric Diabetes. 8 - 5, pp. 307 - 322. 2007.

L. Pasquali; Y. Fan; M. Trucco; S. Ringquist.

Rehabilitation of adaptive immunity and regeneration of beta cells. Trends in Biotechnology. 24 - 11, pp. 516 - 522. 2006.