Marcelo A.Nobrega2W1rGaQSGMzMknJtY0fp/Cv/+94=Marcelo A. Nobrega41.78927490000000-87.601250000000002531Nobrega, Marcelo A.We are interested in mechanistically deciphering how genetic variation increase the risk of human diseases. We are particularly interested in understanding how noncoding genetic variants, most uncovered by Genome-wide Association Studies are associated with disease etiology. The underlying assumption is that a majority of these variants impart their effects by altering the quantitative, temporal, and/or spatial properties of long-range cis-regulatory enhancers. Several challenges hinder the mechanistically follow-up of these GWAS, including 1) identification of the causal variant(s) associated with the disease trait, 2) characterization of the spatial and temporal properties of the enhancer(s) harboring the causal variant(s), 3) establishing differential regulatory properties of the allelic variants of the enhancer(s), 4) identification of the causal gene(s) connected with the enhancer(s) of interest, and 5) characterization of the molecular, cellular, and systems-level phenotypes associated with mis-regulation of the target gene(s). Our lab has been developing pipelines to tackle all these challenges, resulting in integrated experimental and computational strategies to uncover the mechanisms linking regulatory variants to human disease.Professorprns:coAuthorOfcoauthor ofprns:emailEncryptedemail addressFaculty Rankprns:fullNamefull nameprns:hasAuthorListauthor listprns:hasFacultyRankhas faculty rankprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:informationResourceReferenceinformation resource referenceprns:isPrimaryPositionis primary positionprns:latitudelatitudeprns:longitudelongitudeprns:mainImagephotoprns:maxWeightmaximum weightprns:medlineTAjournal title abbreviationprns:meshDescriptorUIMeSH DescriptorUIprns:meshSemanticGroupNameMeSH semantic group nameprns:minWeightminimum weightprns:numberOfAuthorsnumber of authorsprns:numberOfConnectionsnumber of connectionsprns:numberOfPublicationsnumber of publicationsprns:personIdPerson IDprns:personInPrimaryPositionperson in primary positionprns:physicalNeighborOfphysical neighborprns:positionInDepartmentposition in departmentprns:predicateNodepredicate nodeprns:publicationDatepublication dateprns:similarTosimilar toprns:sortOrdersort orderprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed IdentifierAddressvivo:addressCitycityvivo:addressPostalCodepostal codevivo:addressStatestate or provincevivo:authorInAuthorshipselected publicationsvivo:authorRankauthor rank in publicationAuthorshipDepartmentvivo:hasResearchArearesearch areasvivo:hrJobTitleHR job titleInformation Resourcevivo:linkAnchorTextlink anchor textvivo:linkedAuthorlinked authorvivo:linkedInformationResourcelinked information resourcevivo:mailingAddressmailing addressvivo:orcidIdORCID idvivo:overviewoverviewvivo:personInPositionpositionsPositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titleURLLinkvivo:webpagewebpagerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPersonD000273Anatomy1152400.823928Adipose TissueAuthorship 1044126Authorship 10443710Authorship 1044245Authorship 104475728550296Montefiori L, Hernandez L, Zhang Z, Gilad Y, Ober C, Crawford G, Nobrega M, Jo Sakabe NScientific reportsReducing mitochondrial reads in ATAC-seq using CRISPR/Cas9. Sci Rep. 2017 05 26; 7(1):2451.Sci Rep2017-05-26T00:00:002017Reducing mitochondrial reads in ATAC-seq using CRISPR/Cas9.25891045Janissen R, Murillo DM, Niza B, Sahoo PK, Nobrega MM, Cesar CL, Temperini ML, Carvalho HF, de Souza AA, Cotta MAScientific reportsSpatiotemporal distribution of different extracellular polymeric substances and filamentation mediate Xylella fastidiosa adhesion and biofilm formation. Sci Rep. 2015 Apr 20; 5:9856.Sci Rep2015-04-20T00:00:002015Spatiotemporal distribution of different extracellular polymeric substances and filamentation mediate Xylella fastidiosa adhesion and biofilm formation.Authorship 10904212Authorship 1090431029988018Montefiori LE, Sobreira DR, Sakabe NJ, Aneas I, Joslin AC, Hansen GT, Bozek G, Moskowitz IP, McNally EM, Nóbrega MAeLifeA promoter interaction map for cardiovascular disease genetics. Elife. 2018 07 10; 7.Elife2018-07-10T00:00:002018A promoter interaction map for cardiovascular disease genetics.29903739Boogerd CJ, Zhu X, Aneas I, Sakabe N, Zhang L, Sobreira DR, Montefiori L, Bogomolovas J, Joslin AC, Zhou B, Chen J, Nobrega MA, Evans SMCirculation researchTbx20 Is Required in Mid-Gestation Cardiomyocytes and Plays a Central Role in Atrial Development. Circ Res. 2018 08 03; 123(4):428-442.Circ Res2018-08-03T00:00:002018Tbx20 Is Required in Mid-Gestation Cardiomyocytes and Plays a Central Role in Atrial Development.D005786Physiology51419170.529635Gene Expression RegulationAuthorship 12436447003547Berlani RE, Bonitz SG, Coruzzi G, Nobrega M, Tzagoloff ANucleic acids researchTransfer RNA genes in the cap-oxil region of yeast mitochondrial DNA. Nucleic Acids Res. 1980 Nov 11; 8(21):5017-30.Nucleic Acids Res1980-11-11T00:00:001980Transfer RNA genes in the cap-oxil region of yeast mitochondrial DNA.Authorship 1257891230567484Srivastava R, Rolyan H, Xie Y, Li N, Bhat N, Hong L, Esteghamat F, Adeniran A, Geirsson A, Zhang J, Ge G, Nobrega M, Martin KA, Mani AArteriosclerosis, thrombosis, and vascular biologyTCF7L2 (Transcription Factor 7-Like 2) Regulation of GATA6 (GATA-Binding Protein 6)-Dependent and -Independent Vascular Smooth Muscle Cell Plasticity and Intimal Hyperplasia. Arterioscler Thromb Vasc Biol. 2019 02; 39(2):250-262.Arterioscler Thromb Vasc Biol2019-02-01T00:00:002019TCF7L2 (Transcription Factor 7-Like 2) Regulation of GATA6 (GATA-Binding Protein 6)-Dependent and -Independent Vascular Smooth Muscle Cell Plasticity and Intimal Hyperplasia.Authorship 126666230655431Montefiori LE, Nobrega MAScience (New York, N.Y.)Gene therapy for pathologic gene expression. Science. 2019 01 18; 363(6424):231-232.Science2019-01-18T00:00:002019Gene therapy for pathologic gene expression.Authorship 169671Authorship 197756Authorship 1967310Authorship 236441Authorship 243971Authorship 261683Authorship 308105Authorship 273722Authorship 248902Authorship 251032Authorship 1336271231628324van Ouwerkerk AF, Bosada FM, van Duijvenboden K, Hill MC, Montefiori LE, Scholman KT, Liu J, de Vries AAF, Boukens BJ, Ellinor PT, Goumans MJTH, Efimov IR, Nobrega MA, Barnett P, Martin JF, Christoffels VMNature communicationsIdentification of atrial fibrillation associated genes and functional non-coding variants. Nat Commun. 2019 10 18; 10(1):4755.Nat Commun2019-10-18T00:00:002019Identification of atrial fibrillation associated genes and functional non-coding variants.Authorship 324477Authorship 312283Authorship 402386Authorship 452536Authorship 466917Authorship 484493Authorship 385791Authorship 418893Authorship 1369251232290757Burnicka-Turek O, Broman MT, Steimle JD, Boukens BJ, Petrenko NB, Ikegami K, Nadadur RD, Qiao Y, Arnolds DE, Yang XH, Patel VV, Nobrega MA, Efimov IR, Moskowitz IPCirculation researchTranscriptional Patterning of the Ventricular Cardiac Conduction System. Circ Res. 2020 07 17; 127(3):e94-e106.Circ Res2020-04-15T00:00:002020Transcriptional Patterning of the Ventricular Cardiac Conduction System.Authorship 417631Authorship 4792517Authorship 483085Authorship 484339Authorship 424712Authorship 488028Authorship 451077Authorship 456165Authorship 475948Authorship 448154Authorship 1384731532565236Sadovsky Y, Mesiano S, Burton GJ, Lampl M, Murray JC, Freathy RM, Mahadevan-Jansen A, Moffett A, Price ND, Wise PH, Wildman DE, Snyderman R, Paneth N, Capra JA, Nobrega MA, Barak Y, Muglia LJ, Burroughs Wellcome Fund Pregnancy Think Tank Working GroupAmerican journal of obstetrics and gynecologyAdvancing human health in the decade ahead: pregnancy as a key window for discovery: A Burroughs Wellcome Fund Pregnancy Think Tank. Am J Obstet Gynecol. 2020 09; 223(3):312-321.Am J Obstet Gynecol2020-06-19T00:00:002020Advancing human health in the decade ahead: pregnancy as a key window for discovery: A Burroughs Wellcome Fund Pregnancy Think Tank.Authorship 270702Authorship 4025816Authorship 409644Authorship 4679515Authorship 474093Authorship 141191732993371Gacita AM, Dellefave-Castillo L, Page PGT, Barefield DY, Wasserstrom JA, Puckelwartz MJ, Nobrega MA, McNally EMCirculation. Heart failureAltered Enhancer and Promoter Usage Leads to Differential Gene Expression in the Normal and Failed Human Heart. Circ Heart Fail. 2020 10; 13(10):e006926.Circ Heart Fail2020-09-30T00:00:002020Altered Enhancer and Promoter Usage Leads to Differential Gene Expression in the Normal and Failed Human Heart.10656925Nobrega MA, Shiozawa M, Koike G, Jacob HJ, Miano JMMammalian genome : official journal of the International Mammalian Genome SocietyGene structure and chromosomal mapping of the rat smooth muscle calponin gene. Mamm Genome. 2000 Feb; 11(2):115-9.Mamm Genome2000-02-01T00:00:002000Gene structure and chromosomal mapping of the rat smooth muscle calponin gene.Authorship 1421611133188283Helling BA, Sobreira DR, Hansen GT, Sakabe NJ, Luo K, Billstrand C, Laxman B, Nicolae RI, Nicolae DL, Bochkov YA, Gern JE, Nobrega MA, White SR, Ober CCommunications biologyAltered transcriptional and chromatin responses to rhinovirus in bronchial epithelial cells from adults with asthma. Commun Biol. 2020 11 13; 3(1):678.Commun Biol2020-11-13T00:00:002020Altered transcriptional and chromatin responses to rhinovirus in bronchial epithelial cells from adults with asthma.11691858Kwitek AE, Tonellato PJ, Chen D, Gullings-Handley J, Cheng YS, Twigger S, Scheetz TE, Casavant TL, Stoll M, Nobrega MA, Shiozawa M, Soares MB, Sheffield VC, Jacob HJGenome researchAutomated construction of high-density comparative maps between rat, human, and mouse. Genome Res. 2001 Nov; 11(11):1935-43.Genome Res2001-11-01T00:00:002001Automated construction of high-density comparative maps between rat, human, and mouse.11719506Yoon JW, Kita Y, Frank DJ, Majewski RR, Konicek BA, Nobrega MA, Jacob H, Walterhouse D, Iannaccone PThe Journal of biological chemistryGene expression profiling leads to identification of GLI1-binding elements in target genes and a role for multiple downstream pathways in GLI1-induced cell transformation. J Biol Chem. 2002 Feb 15; 277(7):5548-55.J Biol Chem2001-11-21T00:00:002001Gene expression profiling leads to identification of GLI1-binding elements in target genes and a role for multiple downstream pathways in GLI1-induced cell transformation.14563999Nobrega MA, Ovcharenko I, Afzal V, Rubin EMScience (New York, N.Y.)Scanning human gene deserts for long-range enhancers. Science. 2003 Oct 17; 302(5644):413.Science2003-10-17T00:00:002003Scanning human gene deserts for long-range enhancers.14988259Nobrega MA, Fleming S, Roman RJ, Shiozawa M, Schlick N, Lazar J, Jacob HJDiabetesInitial characterization of a rat model of diabetic nephropathy. Diabetes. 2004 Mar; 53(3):735-42.Diabetes2004-03-01T00:00:002004Initial characterization of a rat model of diabetic nephropathy.15153998Boffelli D, Nobrega MA, Rubin EMNature reviews. GeneticsComparative genomics at the vertebrate extremes. Nat Rev Genet. 2004 Jun; 5(6):456-65.Nat Rev Genet2004-06-01T00:00:002004Comparative genomics at the vertebrate extremes.Authorship 143417633478249Gacita AM, Fullenkamp DE, Ohiri J, Pottinger T, Puckelwartz MJ, Nobrega MA, McNally EMCirculationGenetic Variation in Enhancers Modifies Cardiomyopathy Gene Expression and Progression. Circulation. 2021 03 30; 143(13):1302-1316.Circulation2021-01-22T00:00:002021Genetic Variation in Enhancers Modifies Cardiomyopathy Gene Expression and Progression.15980499Ovcharenko I, Nobrega MANucleic acids researchIdentifying synonymous regulatory elements in vertebrate genomes. Nucleic Acids Res. 2005 Jul 01; 33(Web Server issue):W403-7.Nucleic Acids Res2005-07-01T00:00:002005Identifying synonymous regulatory elements in vertebrate genomes.15590943Ovcharenko I, Loots GG, Nobrega MA, Hardison RC, Miller W, Stubbs LGenome researchEvolution and functional classification of vertebrate gene deserts. Genome Res. 2005 Jan; 15(1):137-45.Genome Res2004-12-08T00:00:002004Evolution and functional classification of vertebrate gene deserts.Medicine-Pulmonary and Critical Care17604724Moskowitz IP, Kim JB, Moore ML, Wolf CM, Peterson MA, Shendure J, Nobrega MA, Yokota Y, Berul C, Izumo S, Seidman JG, Seidman CECellA molecular pathway including Id2, Tbx5, and Nkx2-5 required for cardiac conduction system development. Cell. 2007 Jun 29; 129(7):1365-76.Cell2007-06-29T00:00:002007A molecular pathway including Id2, Tbx5, and Nkx2-5 required for cardiac conduction system development.15885503Poulin F, Nobrega MA, Plajzer-Frick I, Holt A, Afzal V, Rubin EM, Pennacchio LAGenomicsIn vivo characterization of a vertebrate ultraconserved enhancer. Genomics. 2005 Jun; 85(6):774-81.Genomics2005-04-15T00:00:002005In vivo characterization of a vertebrate ultraconserved enhancer.17086198Pennacchio LA, Ahituv N, Moses AM, Prabhakar S, Nobrega MA, Shoukry M, Minovitsky S, Dubchak I, Holt A, Lewis KD, Plajzer-Frick I, Akiyama J, De Val S, Afzal V, Black BL, Couronne O, Eisen MB, Visel A, Rubin EMNatureIn vivo enhancer analysis of human conserved non-coding sequences. Nature. 2006 Nov 23; 444(7118):499-502.Nature2006-11-05T00:00:002006In vivo enhancer analysis of human conserved non-coding sequences.15215395Ovcharenko I, Nobrega MA, Loots GG, Stubbs LNucleic acids researchECR Browser: a tool for visualizing and accessing data from comparisons of multiple vertebrate genomes. Nucleic Acids Res. 2004 Jul 01; 32(Web Server issue):W280-6.Nucleic Acids Res2004-07-01T00:00:002004ECR Browser: a tool for visualizing and accessing data from comparisons of multiple vertebrate genomes.19584172Nobrega MA, Solberg Woods LC, Fleming S, Jacob HJPhysiological genomicsDistinct genetic regulation of progression of diabetes and renal disease in the Goto-Kakizaki rat. Physiol Genomics. 2009 Sep 09; 39(1):38-46.Physiol Genomics2009-07-07T00:00:002009Distinct genetic regulation of progression of diabetes and renal disease in the Goto-Kakizaki rat.20627891Wasserman NF, Aneas I, Nobrega MAGenome researchAn 8q24 gene desert variant associated with prostate cancer risk confers differential in vivo activity to a MYC enhancer. Genome Res. 2010 Sep; 20(9):1191-7.Genome Res2010-07-13T00:00:002010An 8q24 gene desert variant associated with prostate cancer risk confers differential in vivo activity to a MYC enhancer.20363979Gotea V, Visel A, Westlund JM, Nobrega MA, Pennacchio LA, Ovcharenko IGenome researchHomotypic clusters of transcription factor binding sites are a key component of human promoters and enhancers. Genome Res. 2010 May; 20(5):565-77.Genome Res2010-04-02T00:00:002010Homotypic clusters of transcription factor binding sites are a key component of human promoters and enhancers.20836039Sakabe NJ, Nobrega MAWiley interdisciplinary reviews. Systems biology and medicineGenome-wide maps of transcription regulatory elements. Wiley Interdiscip Rev Syst Biol Med. 2010 Jul-Aug; 2(4):422-437.Wiley Interdiscip Rev Syst Biol Med2010-07-01T00:00:002010Genome-wide maps of transcription regulatory elements.20075146Narlikar L, Sakabe NJ, Blanski AA, Arimura FE, Westlund JM, Nobrega MA, Ovcharenko IGenome researchGenome-wide discovery of human heart enhancers. Genome Res. 2010 Mar; 20(3):381-92.Genome Res2010-01-14T00:00:002010Genome-wide discovery of human heart enhancers.21628450Taher L, McGaughey DM, Maragh S, Aneas I, Bessling SL, Miller W, Nobrega MA, McCallion AS, Ovcharenko IGenome researchGenome-wide identification of conserved regulatory function in diverged sequences. Genome Res. 2011 Jul; 21(7):1139-49.Genome Res2011-05-31T00:00:002011Genome-wide identification of conserved regulatory function in diverged sequences.Authorship 146646834010658Cheung VC, Peng CY, Marinic M, Sakabe NJ, Aneas I, Lynch VJ, Ober C, Nobrega MA, Kessler JACell reportsPluripotent stem cell-derived endometrial stromal fibroblasts in a cyclic, hormone-responsive, coculture model of human decidua. Cell Rep. 2021 05 18; 35(7):109138.Cell Rep2021-05-18T00:00:002021Pluripotent stem cell-derived endometrial stromal fibroblasts in a cyclic, hormone-responsive, coculture model of human decidua.22269347Sakabe NJ, Savic D, Nobrega MAGenome biologyTranscriptional enhancers in development and disease. Genome Biol. 2012 Jan 23; 13(1):238.Genome Biol2012-01-23T00:00:002012Transcriptional enhancers in development and disease.22585572Distler MG, Plant LD, Sokoloff G, Hawk AJ, Aneas I, Wuenschell GE, Termini J, Meredith SC, Nobrega MA, Palmer AAThe Journal of clinical investigationGlyoxalase 1 increases anxiety by reducing GABAA receptor agonist methylglyoxal. J Clin Invest. 2012 Jun; 122(6):2306-15.J Clin Invest2012-05-15T00:00:002012Glyoxalase 1 increases anxiety by reducing GABAA receptor agonist methylglyoxal.34083488Sobreira DR, Joslin AC, Zhang Q, Williamson I, Hansen GT, Farris KM, Sakabe NJ, Sinnott-Armstrong N, Bozek G, Jensen-Cody SO, Flippo KH, Ober C, Bickmore WA, Potthoff M, Chen M, Claussnitzer M, Aneas I, Nóbrega MAScience (New York, N.Y.)Extensive pleiotropism and allelic heterogeneity mediate metabolic effects of IRX3 and IRX5. Science. 2021 06 04; 372(6546):1085-1091.Science2021-06-04T00:00:002021Extensive pleiotropism and allelic heterogeneity mediate metabolic effects of IRX3 and IRX5.22046400Savic D, Distler MG, Sokoloff G, Shanahan NA, Dulawa SC, Palmer AA, Nobrega MAPloS oneModulation ofTcf7l2 expression alters behavior in mice. PLoS One. 2011; 6(10):e26897.PLoS One2011-10-27T00:00:002011Modulation ofTcf7l2 expression alters behavior in mice.22590553Savic D, Bell GI, Nobrega MAPloS oneAn in vivo cis-regulatory screen at the type 2 diabetes associated TCF7L2 locus identifies multiple tissue-specific enhancers. PLoS One. 2012; 7(5):e36501.PLoS One2012-05-10T00:00:002012An in vivo cis-regulatory screen at the type 2 diabetes associated TCF7L2 locus identifies multiple tissue-specific enhancers.20081195Castillo HA, Cravo RM, Azambuja AP, Simões-Costa MS, Sura-Trueba S, Gonzalez J, Slonimsky E, Almeida K, Abreu JG, de Almeida MA, Sobreira TP, de Oliveira SH, de Oliveira PS, Signore IA, Colombo A, Concha ML, Spengler TS, Bronner-Fraser M, Nobrega M, Rosenthal N, Xavier-Neto JDevelopment (Cambridge, England)Insights into the organization of dorsal spinal cord pathways from an evolutionarily conserved raldh2 intronic enhancer. Development. 2010 Feb; 137(3):507-18.Development2010-02-01T00:00:002010Insights into the organization of dorsal spinal cord pathways from an evolutionarily conserved raldh2 intronic enhancer.22728936Arnolds DE, Liu F, Fahrenbach JP, Kim GH, Schillinger KJ, Smemo S, McNally EM, Nobrega MA, Patel VV, Moskowitz IPThe Journal of clinical investigationTBX5 drives Scn5a expression to regulate cardiac conduction system function. J Clin Invest. 2012 Jul; 122(7):2509-18.J Clin Invest2012-06-25T00:00:002012TBX5 drives Scn5a expression to regulate cardiac conduction system function.22328084Sakabe NJ, Aneas I, Shen T, Shokri L, Park SY, Bulyk ML, Evans SM, Nobrega MAHuman molecular geneticsDual transcriptional activator and repressor roles of TBX20 regulate adult cardiac structure and function. Hum Mol Genet. 2012 May 15; 21(10):2194-204.Hum Mol Genet2012-02-10T00:00:002012Dual transcriptional activator and repressor roles of TBX20 regulate adult cardiac structure and function.Authorship 1486231822080862Shen T, Aneas I, Sakabe N, Dirschinger RJ, Wang G, Smemo S, Westlund JM, Cheng H, Dalton N, Gu Y, Boogerd CJ, Cai CL, Peterson K, Chen J, Nobrega MA, Evans SMThe Journal of clinical investigationTbx20 regulates a genetic program essential to adult mouse cardiomyocyte function. J Clin Invest. 2011 Dec; 121(12):4640-54.J Clin Invest2011-11-14T00:00:002011Tbx20 regulates a genetic program essential to adult mouse cardiomyocyte function.Authorship 149515734454392Bai T, Peng CY, Aneas I, Sakabe N, Requena DF, Billstrand C, Nobrega M, Ober C, Parast M, Kessler JAStem cell researchEstablishment of human induced trophoblast stem-like cells from term villous cytotrophoblasts. Stem Cell Res. 2021 10; 56:102507.Stem Cell Res2021-08-19T00:00:002021Establishment of human induced trophoblast stem-like cells from term villous cytotrophoblasts.22422862Auton A, Fledel-Alon A, Pfeifer S, Venn O, Ségurel L, Street T, Leffler EM, Bowden R, Aneas I, Broxholme J, Humburg P, Iqbal Z, Lunter G, Maller J, Hernandez RD, Melton C, Venkat A, Nobrega MA, Bontrop R, Myers S, Donnelly P, Przeworski M, McVean GScience (New York, N.Y.)A fine-scale chimpanzee genetic map from population sequencing. Science. 2012 Apr 13; 336(6078):193-8.Science2012-03-15T00:00:002012A fine-scale chimpanzee genetic map from population sequencing.17210927Pennacchio LA, Loots GG, Nobrega MA, Ovcharenko IGenome researchPredicting tissue-specific enhancers in the human genome. Genome Res. 2007 Feb; 17(2):201-11.Genome Res2007-01-08T00:00:002007Predicting tissue-specific enhancers in the human genome.21673050Savic D, Ye H, Aneas I, Park SY, Bell GI, Nobrega MAGenome researchAlterations in TCF7L2 expression define its role as a key regulator of glucose metabolism. Genome Res. 2011 Sep; 21(9):1417-25.Genome Res2011-06-14T00:00:002011Alterations in TCF7L2 expression define its role as a key regulator of glucose metabolism.21765002Schneider I, Aneas I, Gehrke AR, Dahn RD, Nobrega MA, Shubin NHProceedings of the National Academy of Sciences of the United States of AmericaAppendage expression driven by the Hoxd Global Control Region is an ancient gnathostome feature. Proc Natl Acad Sci U S A. 2011 Aug 02; 108(31):12782-6.Proc Natl Acad Sci U S A2011-07-15T00:00:002011Appendage expression driven by the Hoxd Global Control Region is an ancient gnathostome feature.22543974Smemo S, Campos LC, Moskowitz IP, Krieger JE, Pereira AC, Nobrega MAHuman molecular geneticsRegulatory variation in a TBX5 enhancer leads to isolated congenital heart disease. Hum Mol Genet. 2012 Jul 15; 21(14):3255-63.Hum Mol Genet2012-04-27T00:00:002012Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease.20595974Nobrega MANatureJournal club. A human geneticist explores the ways that genes are regulated. Nature. 2010 Jul 01; 466(7302):11.Nature2010-07-01T00:00:002010Journal club. A human geneticist explores the ways that genes are regulated.21538814Arnolds DE, Chu A, McNally EM, Nobrega MA, Moskowitz IPBirth defects research. Part A, Clinical and molecular teratologyThe emerging genetic landscape underlying cardiac conduction system function. Birth Defects Res A Clin Mol Teratol. 2011 Jun; 91(6):578-85.Birth Defects Res A Clin Mol Teratol2011-04-28T00:00:002011The emerging genetic landscape underlying cardiac conduction system function.Authorship 1514534234886679Škoric-Milosavljevic D, Tadros R, Bosada FM, Tessadori F, van Weerd JH, Woudstra OI, Tjong FVY, Lahrouchi N, Bajolle F, Cordell HJ, Agopian AJ, Blue GM, Barge-Schaapveld DQCM, Gewillig M, Preuss C, Lodder EM, Barnett P, Ilgun A, Beekman L, van Duijvenboden K, Bokenkamp R, Müller-Nurasyid M, KORA-Study Group, Vliegen HW, Konings TC, van Melle JP, van Dijk APJ, van Kimmenade RRJ, Roos-Hesselink JW, Sieswerda GT, Meijboom F, Abdul-Khaliq H, Berger F, Dittrich S, Hitz MP, Moosmann J, Riede FT, Schubert S, Galan P, Lathrop M, Munter HM, Al-Chalabi A, Shaw CE, Shaw PJ, Morrison KE, Veldink JH, van den Berg LH, Evans S, Nobrega MA, Aneas I, Radivojkov-Blagojevic M, Meitinger T, Oechslin E, Mondal T, Bergin L, Smythe JF, Altamirano-Diaz L, Lougheed J, Bouma BJ, Chaix MA, Kline J, Bassett AS, Andelfinger G, van der Palen RLF, Bouvagnet P, Clur SB, Breckpot J, Kerstjens-Frederikse WS, Winlaw DS, Bauer UMM, Mital S, Goldmuntz E, Keavney B, Bonnet D, Mulder BJ, Tanck MWT, Bakkers J, Christoffels VM, Boogerd CJ, Postma AV, Bezzina CRCirculation researchCommon Genetic Variants Contribute to Risk of Transposition of the Great Arteries. Circ Res. 2022 01 21; 130(2):166-180.Circ Res2021-12-10T00:00:002021Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.D032383Anatomy892750.806611Myocytes, CardiacAuthorship 1558121935770850Chung J, Das A, Sun X, Sobreira DR, Leung YY, Igartua C, Mozaffari S, Chou YF, Thiagalingam S, Mez J, Zhang X, Jun GR, Stein TD, Kunkle BW, Martin ER, Pericak-Vance MA, Mayeux R, Haines JL, Schellenberg GD, Nobrega MA, Lunetta KL, Pinto JM, Wang LS, Ober C, Farrer LAAlzheimer's & dementia : the journal of the Alzheimer's AssociationGenome-wide association and multi-omics studies identify MGMT as a novel risk gene for Alzheimer's disease among women. Alzheimers Dement. 2022 Jun 30.Alzheimers Dement2022-06-30T00:00:002022Genome-wide association and multi-omics studies identify MGMT as a novel risk gene for Alzheimer's disease among women.D058118Chemicals & Drugs16290.97915Transcription Factor 7-Like 2 ProteinAuthorship 1596133936175932Washington C, Dapas M, Biddanda A, Magnaye KM, Aneas I, Helling BA, Szczesny B, Boorgula MP, Taub MA, Kenny E, Mathias RA, Barnes KC, CAAPA, Khurana Hershey GK, Kercsmar CM, Gereige JD, Makhija M, Gruchalla RS, Gill MA, Liu AH, Rastogi D, Busse W, Gergen PJ, Visness CM, Gold DR, Hartert T, Johnson CC, Lemanske RF, Martinez FD, Miller RL, Ownby D, Seroogy CM, Wright AL, Zoratti EM, Bacharier LB, Kattan M, O'Connor GT, Wood RA, Nobrega MA, Altman MC, Jackson DJ, Gern JE, McKennan CG, Ober CGenome medicineAfrican-specific alleles modify risk for asthma at the 17q12-q21 locus in African Americans. Genome Med. 2022 09 29; 14(1):112.Genome Med2022-09-29T00:00:002022African-specific alleles modify risk for asthma at the 17q12-q21 locus in African Americans.ChuanHe1Gp8Cq8dHMzMknJtY0fp/Cv/+94=Chuan He0.000000000000000.000000000000003123He, ChuanProfessorhttp://ober.bsd.uchicago.edu/My Lab Sitehttp://he-group.uchicago.eduMy Lab Sitehttps://fanglab.uchicago.edu/Fang Lab at Chicagohttps://genes.uchicago.edu/directory/graeme-bell-phdDepartment of Human Genetics36917980Yang R, Feng X, Arias-Cavieres A, Mitchell RM, Polo A, Hu K, Zhong R, Qi C, Zhang RS, Westneat N, Portillo CA, Nobrega MA, Hansel C, Garcia Iii AJ, Zhang XNeuronUpregulation of SYNGAP1 expression in mice and human neurons by redirecting alternative splicing. Neuron. 2023 05 17; 111(10):1637-1650.e5.Neuron2023-03-13T00:00:002023Upregulation of SYNGAP1 expression in mice and human neurons by redirecting alternative splicing.D004742Chemicals & Drugs1112660.834545Enhancer Elements, GeneticAuthorship 16216017Authorship 1622131237193763Liu X, Aneas I, Sakabe N, Anderson RL, Billstrand C, Paz C, Kaur H, Furner B, Choi S, Prichina AY, Enninga EAL, Dong H, Murtha A, Crawford GE, Kessler JA, Grobman W, Nobrega MA, Rana S, Ober CScientific reportsSingle cell profiling at the maternal-fetal interface reveals a deficiency of PD-L1+?non-immune cells in human spontaneous preterm labor. Sci Rep. 2023 05 16; 13(1):7903.Sci Rep2023-05-16T00:00:002023Single cell profiling at the maternal-fetal interface reveals a deficiency of PD-L1+?non-immune cells in human spontaneous preterm labor.Authorship 1635892537253881Glunk V, Laber S, Sinnott-Armstrong N, Sobreira DR, Strobel SM, Batista TM, Kubitz P, Moud BN, Ebert H, Huang Y, Brandl B, Garbo G, Honecker J, Stirling DR, Abdennur N, Calabuig-Navarro V, Skurk T, Ocvirk S, Stemmer K, Cimini BA, Carpenter AE, Dankel SN, Lindgren CM, Hauner H, Nobrega MA, Claussnitzer MNature metabolismA non-coding variant linked to metabolic obesity with normal weight affects actin remodelling in subcutaneous adipocytes. Nat Metab. 2023 05; 5(5):861-879.Nat Metab2023-05-30T00:00:002023A non-coding variant linked to metabolic obesity with normal weight affects actin remodelling in subcutaneous adipocytes.25361180Ferrara AM, Pappa T, Fu J, Brown CD, Peterson A, Moeller LC, Wyne K, White KP, Pluzhnikov A, Trubetskoy V, Nobrega M, Weiss RE, Dumitrescu AM, Refetoff SThe Journal of clinical endocrinology and metabolismA novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer. J Clin Endocrinol Metab. 2015 Jan; 100(1):E173-81.J Clin Endocrinol Metab2015-01-01T00:00:002015A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer.ChemistryHuman GeneticsMedicineUniversity of ChicagoNancy JeanCox2WFmE4EXCuiXhHlsaUXv9Gq0+s+oNancy Jean Cox41.78927490000000-87.601250000000001011Cox, Nancy JeanEmeritus/EmeritaT. ConradGilliam0GtlB6gUFL35hHlsaUXv9Gq0+s+oT. Conrad Gilliam41.78927490000000-87.60125000000000109Gilliam, T. ConradProfessorGeorgeBakris0GBoa7McCszMknJtY0fp/Cv/+94=George Bakris41.78927490000000-87.601250000000001393Bakris, GeorgeProfessorEmmaThompsonEmma Thompson41.78927490000000-87.601250000000001395Thompson, EmmaResearch Associate ProfessorSomaDasxGZoGIF1GuTQkntjbwjr93A=Soma Das41.78927490000000-87.601250000000001471Das, SomaProfessorPeter S.CarbonettoPeter S. Carbonetto41.78927490000000-87.601250000000001504Carbonetto, Peter S.0000-0003-1144-6780Research Assistant ProfessorTimotheeFlutreTimothee Flutre41.78927490000000-87.601250000000001553Flutre, TimotheePostdoctoral FellowCaroleOber1G1rDrM1DO/RmHllZ0mg9mHvCarole Ober41.78927490000000-87.601250000000001623Ober, CaroleProfessorNoboruSakabeNoboru Sakabe41.78927490000000-87.601250000000001788Sakabe, NoboruGraemeBellGraeme Bell41.78927490000000-87.601250000000002112Bell, GraemeProfessor3.77040.0027198419research areas2.543610.027132536coauthor of72.629713.213660similar to1179selected publicationsIvanMoskowitz3m9mGKoaDuXNi1pxY07n8GT98IW47aA=Ivan Moskowitz41.78927490000000-87.6012500000000037Moskowitz, IvanProfessorYusukeNakamuraYusuke Nakamura41.78927490000000-87.60125000000000582Nakamura, YusukeEmeritus/Emerita, ProfessorYoavGiladYoav Gilad41.78927490000000-87.60125000000000747Gilad, YoavProfessorAuthorship 168274137961160Nobrega M, Farris K, Andersen E, Donkin I, Versteyhe S, Kristiansen VB, Simpson S, Barres RResearch squareSplicing across adipocyte differentiation is highly dynamic and impacted by metabolic phenotype. Res Sq. 2023 Oct 31.Res Sq2023-10-31T00:00:002023Splicing across adipocyte differentiation is highly dynamic and impacted by metabolic phenotype.Authorship 1695421238231044Li J, Zhu J, Gray O, Sobreira DR, Wu D, Huang RT, Miao B, Sakabe NJ, Krause MD, Kaikkonen MU, Romanoski CE, Nobrega MA, Fang YThe Journal of cell biologyMechanosensitive super-enhancers regulate genes linked to atherosclerosis in endothelial cells. J Cell Biol. 2024 03 04; 223(3).J Cell Biol2024-01-17T00:00:002024Mechanosensitive super-enhancers regulate genes linked to atherosclerosis in endothelial cells.Authorship 1700501038365885Farris KM, Senior AM, Sobreira DR, Mitchell RM, Weber ZT, Ingerslev LR, Barrès R, Simpson SJ, Crean AJ, Nobrega MACommunications biologyDietary macronutrient composition impacts gene regulation in adipose tissue. Commun Biol. 2024 Feb 16; 7(1):194.Commun Biol2024-02-16T00:00:002024Dietary macronutrient composition impacts gene regulation in adipose tissue.https://pcarbo.github.io/personal websitehttps://github.com/pcarbo/GitHubhttp://www.linkedin.com/pub/peter-carbonetto/59/8ab/7aLinkedInhttp://scholar.google.com/citations?user=ghacqrQAAAAJGoogle Scholarhttps://stephenslab.uchicago.eduStephens lab websitetrue1true1ProfessorProfessortrue1ProfessorProfessortrue1ProfessorProfessortrue1ProfessorProfessortrue1Research Associate ProfessorResearch Associate Professortrue1Research Assistant ProfessorResearch Assistant Professortrue1Postdoctoral FellowPostdoctoral Fellowtrue1ProfessorProfessortrue1Emeritus/Emerita, ProfessorEmeritus/Emerita, Professortrue1Emeritus/EmeritaEmeritus/Emeritatrue1ProfessorProfessortrue1ProfessorProfessortrue1ProfessorProfessortrue1Associate ProfessorAssociate Professortrue1ProfessorProfessorAuthorship 6520610Authorship 697862Authorship 701815Authorship 6998816Authorship 7044019Authorship 715014Authorship 791691Authorship 783555Authorship 7346311Authorship 746642025015099Zhou Y, Park SY, Su J, Bailey K, Ottosson-Laakso E, Shcherbina L, Oskolkov N, Zhang E, Thevenin T, Fadista J, Bennet H, Vikman P, Wierup N, Fex M, Rung J, Wollheim C, Nobrega M, Renström E, Groop L, Hansson OHuman molecular geneticsTCF7L2 is a master regulator of insulin production and processing. Hum Mol Genet. 2014 Dec 15; 23(24):6419-31.Hum Mol Genet2014-07-11T00:00:002014TCF7L2 is a master regulator of insulin production and processing.23503198Pennacchio LA, Bickmore W, Dean A, Nobrega MA, Bejerano GNature reviews. GeneticsEnhancers: five essential questions. Nat Rev Genet. 2013 04; 14(4):288-95.Nat Rev Genet2013-04-01T00:00:002013Enhancers: five essential questions.25772367Chapman KM, Medrano GA, Jaichander P, Chaudhary J, Waits AE, Nobrega MA, Hotaling JM, Ober C, Hamra FKCell reportsTargeted Germline Modifications in Rats Using CRISPR/Cas9 and Spermatogonial Stem Cells. Cell Rep. 2015 Mar 24; 10(11):1828-35.Cell Rep2015-03-12T00:00:002015Targeted Germline Modifications in Rats Using CRISPR/Cas9 and Spermatogonial Stem Cells.25568076Mutskov V, Khalyfa A, Wang Y, Carreras A, Nobrega MA, Gozal DAmerican journal of physiology. Regulatory, integrative and comparative physiologyEarly-life physical activity reverses metabolic and Foxo1 epigenetic misregulation induced by gestational sleep disturbance. Am J Physiol Regul Integr Comp Physiol. 2015 Mar 01; 308(5):R419-30.Am J Physiol Regul Integr Comp Physiol2015-01-07T00:00:002015Early-life physical activity reverses metabolic and Foxo1 epigenetic misregulation induced by gestational sleep disturbance.25398947Bailey KA, Savic D, Zielinski M, Park SY, Wang LJ, Witkowski P, Brady M, Hara M, Bell GI, Nobrega MAHuman molecular geneticsEvidence of non-pancreatic beta cell-dependent roles of Tcf7l2 in the regulation of glucose metabolism in mice. Hum Mol Genet. 2015 Mar 15; 24(6):1646-54.Hum Mol Genet2014-11-14T00:00:002014Evidence of non-pancreatic beta cell-dependent roles of Tcf7l2 in the regulation of glucose metabolism in mice.24022755Wang QF, Li YJ, Dong JF, Li B, Kaberlein JJ, Zhang L, Arimura FE, Luo RT, Ni J, He F, Wu J, Mattison R, Zhou J, Wang CZ, Prabhakar S, Nobrega MA, Thirman MJLeukemiaRegulation of MEIS1 by distal enhancer elements in acute leukemia. Leukemia. 2014 Jan; 28(1):138-46.Leukemia2013-09-11T00:00:002013Regulation of MEIS1 by distal enhancer elements in acute leukemia.24218635Sakabe NJ, Nobrega MAPhilosophical transactions of the Royal Society of London. Series B, Biological sciencesBeyond the ENCODE project: using genomics and epigenomics strategies to study enhancer evolution. Philos Trans R Soc Lond B Biol Sci. 2013 Dec 19; 368(1632):20130022.Philos Trans R Soc Lond B Biol Sci2013-11-11T00:00:002013Beyond the ENCODE project: using genomics and epigenomics strategies to study enhancer evolution.24642470van den Boogaard M, Smemo S, Burnicka-Turek O, Arnolds DE, van de Werken HJ, Klous P, McKean D, Muehlschlegel JD, Moosmann J, Toka O, Yang XH, Koopmann TT, Adriaens ME, Bezzina CR, de Laat W, Seidman C, Seidman JG, Christoffels VM, Nobrega MA, Barnett P, Moskowitz IPThe Journal of clinical investigationA common genetic variant within SCN10A modulates cardiac SCN5A expression. J Clin Invest. 2014 Apr; 124(4):1844-52.J Clin Invest2014-03-18T00:00:002014A common genetic variant within SCN10A modulates cardiac SCN5A expression.14678488Nobrega MA, Pennacchio LAThe Journal of physiologyComparative genomic analysis as a tool for biological discovery. J Physiol. 2004 Jan 01; 554(Pt 1):31-9.J Physiol2004-01-01T00:00:002004Comparative genomic analysis as a tool for biological discovery.24445817Zhou J, Wu J, Li B, Liu D, Yu J, Yan X, Zheng S, Wang J, Zhang L, Zhang L, He F, Li Q, Chen A, Zhang Y, Zhao X, Guan Y, Zhao X, Yan J, Ni J, Nobrega MA, Löwenberg B, Delwel R, Valk PJ, Kumar A, Xie L, Tenen DG, Huang G, Wang QFLeukemiaPU.1 is essential for MLL leukemia partially via crosstalk with the MEIS/HOX pathway. Leukemia. 2014 Jul; 28(7):1436-48.Leukemia2013-12-26T00:00:002013PU.1 is essential for MLL leukemia partially via crosstalk with the MEIS/HOX pathway.1010Authorship 798811026028220Guimarães-Camboa N, Stowe J, Aneas I, Sakabe N, Cattaneo P, Henderson L, Kilberg MS, Johnson RS, Chen J, McCulloch AD, Nobrega MA, Evans SM, Zambon ACDevelopmental cellHIF1a Represses Cell Stress Pathways to Allow Proliferation of Hypoxic Fetal Cardiomyocytes. Dev Cell. 2015 Jun 08; 33(5):507-21.Dev Cell2015-05-28T00:00:002015HIF1a Represses Cell Stress Pathways to Allow Proliferation of Hypoxic Fetal Cardiomyocytes.Authorship 80075326034287Gómez-Marín C, Tena JJ, Acemel RD, López-Mayorga M, Naranjo S, de la Calle-Mustienes E, Maeso I, Beccari L, Aneas I, Vielmas E, Bovolenta P, Nobrega MA, Carvajal J, Gómez-Skarmeta JLProceedings of the National Academy of Sciences of the United States of AmericaEvolutionary comparison reveals that diverging CTCF sites are signatures of ancestral topological associating domains borders. Proc Natl Acad Sci U S A. 2015 Jun 16; 112(24):7542-7.Proc Natl Acad Sci U S A2015-06-01T00:00:002015Evolutionary comparison reveals that diverging CTCF sites are signatures of ancestral topological associating domains borders.Medicine-EndocrinologyChicago60637ILAuthorship 92770827348591Boogerd CJ, Aneas I, Sakabe N, Dirschinger RJ, Cheng QJ, Zhou B, Chen J, Nobrega MA, Evans SMThe Journal of clinical investigationProbing chromatin landscape reveals roles of endocardial TBX20 in septation. J Clin Invest. 2016 08 01; 126(8):3023-35.J Clin Invest2016-06-27T00:00:002016Probing chromatin landscape reveals roles of endocardial TBX20 in septation.Authorship 92867127499506Nóbrega MA, Gómez-Skarmeta JLSeminars in cell & developmental biologyEditorial. Semin Cell Dev Biol. 2016 09; 57:1.Semin Cell Dev Biol2016-09-01T00:00:002016Editorial.Pediatrics-CardiologyYunFangzndnDaAbHszMknJtY0fp/Cv/+94=Yun Fang0.000000000000000.000000000000002688Fang, YunAssociate ProfessorAuthorship 555083Authorship 5798518Authorship 616001Authorship 603575Authorship 623511019372089van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, Van der Aa N, van Ravenswaaij C, Nobrega MA, Serra-Juhé C, Simonic I, de Leeuw N, Pfundt R, Bongers EM, Baker C, Finnemore P, Huang S, Maloney VK, Crolla JA, van Kalmthout M, Elia M, Vandeweyer G, Fryns JP, Janssens S, Foulds N, Reitano S, Smith K, Parkel S, Loeys B, Woods CG, Oostra A, Speleman F, Pereira AC, Kurg A, Willatt L, Knight SJ, Vermeesch JR, Romano C, Barber JC, Mortier G, Pérez-Jurado LA, Kooy F, Brunner HG, Eichler EE, Kleefstra T, de Vries BBJournal of medical geneticsFurther delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet. 2009 Aug; 46(8):511-23.J Med Genet2009-04-15T00:00:002009Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.23653210Fu Y, Jia G, Pang X, Wang RN, Wang X, Li CJ, Smemo S, Dai Q, Bailey KA, Nobrega MA, Han KL, Cui Q, He CNature communicationsFTO-mediated formation of N6-hydroxymethyladenosine and N6-formyladenosine in mammalian RNA. Nat Commun. 2013; 4:1798.Nat Commun2013-01-01T00:00:002013FTO-mediated formation of N6-hydroxymethyladenosine and N6-formyladenosine in mammalian RNA.15358733Ahituv N, Rubin EM, Nobrega MAHuman molecular geneticsExploiting human--fish genome comparisons for deciphering gene regulation. Hum Mol Genet. 2004 Oct 01; 13 Spec No 2:R261-6.Hum Mol Genet2004-10-01T00:00:002004Exploiting human--fish genome comparisons for deciphering gene regulation.23011354Savic D, Park SY, Bailey KA, Bell GI, Nobrega MADiabetologiaIn vitro scan for enhancers at the TCF7L2 locus. Diabetologia. 2013 Jan; 56(1):121-5.Diabetologia2012-09-26T00:00:002012In vitro scan for enhancers at the TCF7L2 locus.23431017Nobrega MADiabetesTCF7L2 and glucose metabolism: time to look beyond the pancreas. Diabetes. 2013 Mar; 62(3):706-8.Diabetes2013-03-01T00:00:002013TCF7L2 and glucose metabolism: time to look beyond the pancreas.27942592Nicodemus-Johnson J, Myers RA, Sakabe NJ, Sobreira DR, Hogarth DK, Naureckas ET, Sperling AI, Solway J, White SR, Nobrega MA, Nicolae DL, Gilad Y, Ober CJCI insightDNA methylation in lung cells is associated with asthma endotypes and genetic risk. JCI Insight. 2016 12 08; 1(20):e90151.JCI Insight2016-12-08T00:00:002016DNA methylation in lung cells is associated with asthma endotypes and genetic risk.