Endocrine Regulatory Genomics
Endocrine Regulatory Genomics

Articles:

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.

Reviews and Book Chapters:

 

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.

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