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Items: 1 to 50 of 92

1.

Human mitochondrial DNA is extensively methylated in a non-CpG context.

Patil V, Cuenin C, Chung F, Aguilera JRR, Fernandez-Jimenez N, Romero-Garmendia I, Bilbao JR, Cahais V, Rothwell J, Herceg Z.

Nucleic Acids Res. 2019 Nov 4;47(19):10072-10085. doi: 10.1093/nar/gkz762.

2.

Combined Analysis of Methylation and Gene Expression Profiles in Separate Compartments of Small Bowel Mucosa Identified Celiac Disease Patients' Signatures.

Cielo D, Galatola M, Fernandez-Jimenez N, De Leo L, Garcia-Etxebarria K, Loganes C, Tommasini A, Not T, Auricchio R, Greco L, Bilbao JR.

Sci Rep. 2019 Jul 10;9(1):10020. doi: 10.1038/s41598-019-46468-2.

3.

Comparison of Illumina 450K and EPIC arrays in placental DNA methylation.

Fernandez-Jimenez N, Allard C, Bouchard L, Perron P, Bustamante M, Bilbao JR, Hivert MF.

Epigenetics. 2019 Dec;14(12):1177-1182. doi: 10.1080/15592294.2019.1634975. Epub 2019 Jun 28.

PMID:
31250700
4.
5.

MethylCal: Bayesian calibration of methylation levels.

Ochoa E, Zuber V, Fernandez-Jimenez N, Bilbao JR, Clark GR, Maher ER, Bottolo L.

Nucleic Acids Res. 2019 Aug 22;47(14):e81. doi: 10.1093/nar/gkz325.

6.

A novel RT-QPCR-based assay for the relative quantification of residue specific m6A RNA methylation.

Castellanos-Rubio A, Santin I, Olazagoitia-Garmendia A, Romero-Garmendia I, Jauregi-Miguel A, Legarda M, Bilbao JR.

Sci Rep. 2019 Mar 12;9(1):4220. doi: 10.1038/s41598-019-40018-6.

7.

The methylome of the celiac intestinal epithelium harbours genotype-independent alterations in the HLA region.

Fernandez-Jimenez N, Garcia-Etxebarria K, Plaza-Izurieta L, Romero-Garmendia I, Jauregi-Miguel A, Legarda M, Ecsedi S, Castellanos-Rubio A, Cahais V, Cuenin C, Degli Esposti D, Irastorza I, Hernandez-Vargas H, Herceg Z, Bilbao JR.

Sci Rep. 2019 Feb 4;9(1):1298. doi: 10.1038/s41598-018-37746-6.

8.

Subcellular Fractionation from Fresh and Frozen Gastrointestinal Specimens.

Romero-Garmendia I, Jauregi-Miguel A, Santin I, Bilbao JR, Castellanos-Rubio A.

J Vis Exp. 2018 Jul 15;(137). doi: 10.3791/57740.

PMID:
30059028
9.

Transcription Factor Binding Site Enrichment Analysis in Co-Expression Modules in Celiac Disease.

Romero-Garmendia I, Garcia-Etxebarria K, Hernandez-Vargas H, Santin I, Jauregi-Miguel A, Plaza-Izurieta L, Cros MP, Legarda M, Irastorza I, Herceg Z, Fernandez-Jimenez N, Bilbao JR.

Genes (Basel). 2018 May 10;9(5). pii: E245. doi: 10.3390/genes9050245.

10.

Recommendations to report and interpret HLA genetic findings in coeliac disease.

Núñez C, Garrote JA, Arranz E, Bilbao JR, Fernández Bañares F, Jiménez J, Perucho T, Ruiz Casares E, Sánchez-Valverde F, Serrano JI.

Rev Esp Enferm Dig. 2018 Jul;110(7):458-461. doi: 10.17235/reed.2018.5269/2017.

11.

Celiac Diasease-associated lncRNA Named HCG14 Regulates NOD1 Expression in Intestinal Cells.

Santin I, Jauregi-Miguel A, Velayos T, Castellanos-Rubio A, Garcia-Etxebarria K, Romero-Garmendia I, Fernandez-Jimenez N, Irastorza I, Castaño L, Bilbao JR.

J Pediatr Gastroenterol Nutr. 2018 Aug;67(2):225-231. doi: 10.1097/MPG.0000000000001970.

PMID:
29601440
12.

DNA methylation in childhood asthma: an epigenome-wide meta-analysis.

Xu CJ, Söderhäll C, Bustamante M, Baïz N, Gruzieva O, Gehring U, Mason D, Chatzi L, Basterrechea M, Llop S, Torrent M, Forastiere F, Fantini MP, Carlsen KCL, Haahtela T, Morin A, Kerkhof M, Merid SK, van Rijkom B, Jankipersadsing SA, Bonder MJ, Ballereau S, Vermeulen CJ, Aguirre-Gamboa R, de Jongste JC, Smit HA, Kumar A, Pershagen G, Guerra S, Garcia-Aymerich J, Greco D, Reinius L, McEachan RRC, Azad R, Hovland V, Mowinckel P, Alenius H, Fyhrquist N, Lemonnier N, Pellet J, Auffray C; BIOS Consortium, van der Vlies P, van Diemen CC, Li Y, Wijmenga C, Netea MG, Moffatt MF, Cookson WOCM, Anto JM, Bousquet J, Laatikainen T, Laprise C, Carlsen KH, Gori D, Porta D, Iñiguez C, Bilbao JR, Kogevinas M, Wright J, Brunekreef B, Kere J, Nawijn MC, Annesi-Maesano I, Sunyer J, Melén E, Koppelman GH.

Lancet Respir Med. 2018 May;6(5):379-388. doi: 10.1016/S2213-2600(18)30052-3. Epub 2018 Feb 26.

13.

Profiling Celiac Disease-Related Transcriptional Changes.

Castellanos-Rubio A, Bilbao JR.

Int Rev Cell Mol Biol. 2018;336:149-174. doi: 10.1016/bs.ircmb.2017.07.003. Epub 2017 Sep 18. Review.

PMID:
29413889
14.

Concentrations of urinary arsenic species in relation to rice and seafood consumption among children living in Spain.

Signes-Pastor AJ, Vioque J, Navarrete-Muñoz EM, Carey M, García de la Hera M, Sunyer J, Casas M, Riaño-Galán I, Tardón A, Llop S, Amorós R, Amiano P, Bilbao JR, Karagas MR, Meharg AA.

Environ Res. 2017 Nov;159:69-75. doi: 10.1016/j.envres.2017.07.046. Epub 2017 Aug 1.

15.

Association of the IL-15 and IL-15Rα genes with celiac disease.

Escudero-Hernández C, Plaza-Izurieta L, Garrote JA, Bilbao JR; CEGEC, Arranz E.

Cytokine. 2017 Nov;99:73-79. doi: 10.1016/j.cyto.2017.07.009. Epub 2017 Jul 23.

PMID:
28738233
16.

Lower Frequency of HLA-DRB1 Type 1 Diabetes Risk Alleles in Pediatric Patients with MODY.

Urrutia I, Martínez R, López-Euba T, Velayos T, Martínez de LaPiscina I, Bilbao JR, Rica I, Castaño L; Spanish Group for the Study of MODY and Type 1 diabetes.

PLoS One. 2017 Jan 4;12(1):e0169389. doi: 10.1371/journal.pone.0169389. eCollection 2017.

17.

Ancestry-based stratified analysis of Immunochip data identifies novel associations with celiac disease.

Garcia-Etxebarria K, Jauregi-Miguel A, Romero-Garmendia I, Plaza-Izurieta L, Legarda M, Irastorza I, Bilbao JR.

Eur J Hum Genet. 2016 Dec;24(12):1831-1834. doi: 10.1038/ejhg.2016.120. Epub 2016 Sep 21.

18.

A long noncoding RNA associated with susceptibility to celiac disease.

Castellanos-Rubio A, Fernandez-Jimenez N, Kratchmarov R, Luo X, Bhagat G, Green PH, Schneider R, Kiledjian M, Bilbao JR, Ghosh S.

Science. 2016 Apr 1;352(6281):91-5. doi: 10.1126/science.aad0467.

19.

Expression analysis in intestinal mucosa reveals complex relations among genes under the association peaks in celiac disease.

Plaza-Izurieta L, Fernandez-Jimenez N, Irastorza I, Jauregi-Miguel A, Romero-Garmendia I, Vitoria JC, Bilbao JR.

Eur J Hum Genet. 2015 Aug;23(8):1100-5. doi: 10.1038/ejhg.2014.244. Epub 2014 Nov 12.

20.

Alteration of tight junction gene expression in celiac disease.

Jauregi-Miguel A, Fernandez-Jimenez N, Irastorza I, Plaza-Izurieta L, Vitoria JC, Bilbao JR.

J Pediatr Gastroenterol Nutr. 2014 Jun;58(6):762-7. doi: 10.1097/MPG.0000000000000338.

PMID:
24552675
21.

Celiac disease in the Mediterranean area.

Tucci F, Astarita L, Abkari A, Abu-Zekry M, Attard T, Ben Hariz M, Bilbao JR, Boudraa G, Boukthir S, Costa S, Djurisic V, Hugot JP, Irastorza I, Kansu A, Kolaček S, Magazzù G, Mičetić-Turk D, Misak Z, Roma E, Rossi P, Terzic S, Velmishi V, Arcidiaco C, Auricchio R, Greco L.

BMC Gastroenterol. 2014 Feb 11;14:24. doi: 10.1186/1471-230X-14-24.

22.

Detection of atomic scale changes in the free volume void size of three-dimensional colorectal cancer cell culture using positron annihilation lifetime spectroscopy.

Axpe E, Lopez-Euba T, Castellanos-Rubio A, Merida D, Garcia JA, Plaza-Izurieta L, Fernandez-Jimenez N, Plazaola F, Bilbao JR.

PLoS One. 2014 Jan 2;9(1):e83838. doi: 10.1371/journal.pone.0083838. eCollection 2014.

23.

Fine mapping of the celiac disease-associated LPP locus reveals a potential functional variant.

Almeida R, Ricaño-Ponce I, Kumar V, Deelen P, Szperl A, Trynka G, Gutierrez-Achury J, Kanterakis A, Westra HJ, Franke L, Swertz MA, Platteel M, Bilbao JR, Barisani D, Greco L, Mearin L, Wolters VM, Mulder C, Mazzilli MC, Sood A, Cukrowska B, Núñez C, Pratesi R, Withoff S, Wijmenga C.

Hum Mol Genet. 2014 May 1;23(9):2481-9. doi: 10.1093/hmg/ddt619. Epub 2013 Dec 11.

24.

Coregulation and modulation of NFκB-related genes in celiac disease: uncovered aspects of gut mucosal inflammation.

Fernandez-Jimenez N, Castellanos-Rubio A, Plaza-Izurieta L, Irastorza I, Elcoroaristizabal X, Jauregi-Miguel A, Lopez-Euba T, Tutau C, de Pancorbo MM, Vitoria JC, Bilbao JR.

Hum Mol Genet. 2014 Mar 1;23(5):1298-310. doi: 10.1093/hmg/ddt520. Epub 2013 Oct 24.

25.

THEMIS and PTPRK in celiac intestinal mucosa: coexpression in disease and after in vitro gliadin challenge.

Bondar C, Plaza-Izurieta L, Fernandez-Jimenez N, Irastorza I, Withoff S, Wijmenga C, Chirdo F, Bilbao JR; CEGEC.

Eur J Hum Genet. 2014 Mar;22(3):358-62. doi: 10.1038/ejhg.2013.136. Epub 2013 Jul 3.

26.

Improving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants.

Romanos J, Rosén A, Kumar V, Trynka G, Franke L, Szperl A, Gutierrez-Achury J, van Diemen CC, Kanninga R, Jankipersadsing SA, Steck A, Eisenbarth G, van Heel DA, Cukrowska B, Bruno V, Mazzilli MC, Núñez C, Bilbao JR, Mearin ML, Barisani D, Rewers M, Norris JM, Ivarsson A, Boezen HM, Liu E, Wijmenga C; PreventCD Group.

Gut. 2014 Mar;63(3):415-22. doi: 10.1136/gutjnl-2012-304110. Epub 2013 May 23.

27.

[Updates on coeliac disease].

Vitoria JC, Bilbao JR.

An Pediatr (Barc). 2013 Jan;78(1):1-5. doi: 10.1016/j.anpedi.2012.09.002. Epub 2012 Oct 11. Spanish. No abstract available.

28.

Accuracy in copy number calling by qPCR and PRT: a matter of DNA.

Fernandez-Jimenez N, Castellanos-Rubio A, Plaza-Izurieta L, Gutierrez G, Irastorza I, Castaño L, Vitoria JC, Bilbao JR.

PLoS One. 2011;6(12):e28910. doi: 10.1371/journal.pone.0028910. Epub 2011 Dec 13.

29.

Angiogenesis-related gene expression analysis in celiac disease.

Castellanos-Rubio A, Caja S, Irastorza I, Fernandez-Jimenez N, Plaza-Izurieta L, Vitoria JC, Maki M, Lindfors K, Bilbao JR.

Autoimmunity. 2012 May;45(3):264-70. doi: 10.3109/08916934.2011.637531. Epub 2012 Jan 9.

PMID:
22136669
30.

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease.

Trynka G, Hunt KA, Bockett NA, Romanos J, Mistry V, Szperl A, Bakker SF, Bardella MT, Bhaw-Rosun L, Castillejo G, de la Concha EG, de Almeida RC, Dias KR, van Diemen CC, Dubois PC, Duerr RH, Edkins S, Franke L, Fransen K, Gutierrez J, Heap GA, Hrdlickova B, Hunt S, Plaza Izurieta L, Izzo V, Joosten LA, Langford C, Mazzilli MC, Mein CA, Midah V, Mitrovic M, Mora B, Morelli M, Nutland S, Núñez C, Onengut-Gumuscu S, Pearce K, Platteel M, Polanco I, Potter S, Ribes-Koninckx C, Ricaño-Ponce I, Rich SS, Rybak A, Santiago JL, Senapati S, Sood A, Szajewska H, Troncone R, Varadé J, Wallace C, Wolters VM, Zhernakova A; Spanish Consortium on the Genetics of Coeliac Disease (CEGEC); PreventCD Study Group; Wellcome Trust Case Control Consortium (WTCCC), Thelma BK, Cukrowska B, Urcelay E, Bilbao JR, Mearin ML, Barisani D, Barrett JC, Plagnol V, Deloukas P, Wijmenga C, van Heel DA.

Nat Genet. 2011 Nov 6;43(12):1193-201. doi: 10.1038/ng.998.

31.

Upregulation of KIR3DL1 gene expression in intestinal mucosa in active celiac disease.

Fernandez-Jimenez N, Santín I, Irastorza I, Plaza-Izurieta L, Castellanos-Rubio A, Vitoria JC, Bilbao JR.

Hum Immunol. 2011 Aug;72(8):617-20. doi: 10.1016/j.humimm.2011.04.008. Epub 2011 May 13.

PMID:
21616111
32.

Revisiting genome wide association studies (GWAS) in coeliac disease: replication study in Spanish population and expression analysis of candidate genes.

Plaza-Izurieta L, Castellanos-Rubio A, Irastorza I, Fernández-Jimenez N, Gutierrez G; CEGEC, Bilbao JR.

J Med Genet. 2011 Jul;48(7):493-6. doi: 10.1136/jmg.2011.089714. Epub 2011 Apr 13.

PMID:
21490378
33.

Analysis of beta-defensin and Toll-like receptor gene copy number variation in celiac disease.

Fernandez-Jimenez N, Castellanos-Rubio A, Plaza-Izurieta L, Gutierrez G, Castaño L, Vitoria JC, Bilbao JR.

Hum Immunol. 2010 Aug;71(8):833-6. doi: 10.1016/j.humimm.2010.05.012. Epub 2010 May 17.

PMID:
20483368
34.

Long-term and acute effects of gliadin on small intestine of patients on potentially pathogenic networks in celiac disease.

Castellanos-Rubio A, Santin I, Martin-Pagola A, Irastorza I, Castaño L, Vitoria JC, Bilbao JR.

Autoimmunity. 2010 Mar;43(2):131-9. doi: 10.3109/08916930903225229.

PMID:
19814655
35.

A regulatory single nucleotide polymorphism in the ubiquitin D gene associated with celiac disease.

Castellanos-Rubio A, Santin I, Irastorza I, Sanchez-Valverde F, Castaño L, Vitoria JC, Bilbao JR.

Hum Immunol. 2010 Jan;71(1):96-9. doi: 10.1016/j.humimm.2009.09.359.

PMID:
19808075
36.

Exploring the diabetogenicity of the HLA-B18-DR3 CEH: independent association with T1D genetic risk close to HLA-DOA.

Santin I, Castellanos-Rubio A, Aransay AM, Gutierrez G, Gaztambide S, Rica I, Vicario JL, Noble JA, Castaño L, Bilbao JR.

Genes Immun. 2009 Sep;10(6):596-600. doi: 10.1038/gene.2009.41. Epub 2009 May 21.

37.

Evidence that the COMTVal158Met polymorphism moderates subclinical psychotic and affective symptoms in unaffected first-degree relatives of patients with schizophrenia.

van Winkel R, Isusi P, Galdos P, Echevarria E, Bilbao JR, Martin-Pagola A, Castaño L, Papiol S, Mengelers R, Krabbendam L, van Os J, Myin-Germeys I.

Eur Psychiatry. 2008 Apr;23(3):219-22. doi: 10.1016/j.eurpsy.2007.12.002. Epub 2008 Mar 6.

PMID:
18328676
38.

Combined functional and positional gene information for the identification of susceptibility variants in celiac disease.

Castellanos-Rubio A, Martin-Pagola A, Santín I, Hualde I, Aransay AM, Castaño L, Vitoria JC, Bilbao JR.

Gastroenterology. 2008 Mar;134(3):738-46. doi: 10.1053/j.gastro.2007.11.041. Epub 2007 Nov 28.

PMID:
18241860
39.

The functional R620W variant of the PTPN22 gene is associated with celiac disease.

Santin I, Castellanos-Rubio A, Aransay AM, Castaño L, Vitoria JC, Bilbao JR.

Tissue Antigens. 2008 Mar;71(3):247-9. doi: 10.1111/j.1399-0039.2007.01002.x. Epub 2008 Jan 10.

PMID:
18194365
40.

Toll-like receptor 4 (TLR4) gene polymorphisms in celiac disease.

Santin I, Castellanos-Rubio A, Hualde I, Castaño L, Vitoria JC, Bilbao JR.

Tissue Antigens. 2007 Dec;70(6):495-8. Epub 2007 Oct 8.

PMID:
17927684
41.

Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.

Estalella I, Rica I, Perez de Nanclares G, Bilbao JR, Vazquez JA, San Pedro JI, Busturia MA, Castaño L; Spanish MODY Group.

Clin Endocrinol (Oxf). 2007 Oct;67(4):538-46. Epub 2007 Jun 15.

PMID:
17573900
42.

The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities.

Rica I, Luzuriaga C, Pérez de Nanclares G, Estalella I, Aragonés A, Barrio R, Bilbao JR, Carlés C, Fernández C, Fernández JM, Fernández-Rebollo E, Gastaldo E, Giralt P, Gomez Vida JM, Gutiérrez A, López Siguero JP, Martínez-Aedo MJ, Muñoz M, Prieto J, Rodrigo J, Vargas F, Castano L.

Diabet Med. 2007 Jul;24(7):707-13. Epub 2007 May 8.

PMID:
17490422
43.

Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy.

de Nanclares GP, Fernández-Rebollo E, Santin I, García-Cuartero B, Gaztambide S, Menéndez E, Morales MJ, Pombo M, Bilbao JR, Barros F, Zazo N, Ahrens W, Jüppner H, Hiort O, Castaño L, Bastepe M.

J Clin Endocrinol Metab. 2007 Jun;92(6):2370-3. Epub 2007 Apr 3.

PMID:
17405843
44.

Two-year follow-up of anti-transglutaminase autoantibodies among celiac children on gluten-free diet: comparison of IgG and IgA.

Martín-Pagola A, Ortiz-Paranza L, Bilbao JR, de Nanclares GP, Estevez EP, Castaño L, Vitoria JC.

Autoimmunity. 2007 Mar;40(2):117-21.

PMID:
17364503
45.

Association of KIR2DL5B gene with celiac disease supports the susceptibility locus on 19q13.4.

Santin I, Castellanos-Rubio A, Perez de Nanclares G, Vitoria JC, Castaño L, Bilbao JR.

Genes Immun. 2007 Mar;8(2):171-6. Epub 2007 Jan 11.

PMID:
17215859
46.

No association of TLR2 and TLR4 polymorphisms with type I diabetes mellitus in the Basque population.

Santin I, Bilbao JR, de Nanclares GP, Calvo B, Castaño L.

Ann N Y Acad Sci. 2006 Oct;1079:268-72.

PMID:
17130564
47.

Conserved extended haplotypes discriminate HLA-DR3-homozygous Basque patients with type 1 diabetes mellitus and celiac disease.

Bilbao JR, Calvo B, Aransay AM, Martin-Pagola A, Perez de Nanclares G, Aly TA, Rica I, Vitoria JC, Gaztambide S, Noble J, Fain PR, Awdeh ZL, Alper CA, Castaño L.

Genes Immun. 2006 Oct;7(7):550-4. Epub 2006 Aug 24.

PMID:
16929349
48.

Associations between COMTVal158Met polymorphism and cognition: direct or indirect effects?

Krabbendam L, Isusi P, Galdos P, Echevarria E, Bilbao JR, Martin-Pagola A, Papiol S, Castaño L, Van Os J.

Eur Psychiatry. 2006 Jul;21(5):338-42. Epub 2006 Jul 11.

PMID:
16815691
49.

Killer cell immunoglobulin-like receptor (KIR) genes in the Basque population: association study of KIR gene contents with type 1 diabetes mellitus.

Santin I, de Nanclares GP, Calvo B, Gaafar A, Castaño L; GEPV-N Group, Bilbao JR.

Hum Immunol. 2006 Jan-Feb;67(1-2):118-24. Epub 2006 Apr 5.

PMID:
16698433
50.

Functional study of a novel single deletion in the TITF1/NKX2.1 homeobox gene that produces congenital hypothyroidism and benign chorea but not pulmonary distress.

Moya CM, Perez de Nanclares G, Castaño L, Potau N, Bilbao JR, Carrascosa A, Bargadá M, Coya R, Martul P, Vicens-Calvet E, Santisteban P.

J Clin Endocrinol Metab. 2006 May;91(5):1832-41. Epub 2006 Feb 28.

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