{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T13:42:15Z","timestamp":1791380535819,"version":"4.3.3"},"reference-count":80,"publisher":"Oxford University Press (OUP)","issue":"22","license":[{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003074","name":"Agencia Nacional de Promoci\u00f3n Cient\u00edfica y Tecnol\u00f3gica","doi-asserted-by":"publisher","award":["PICT 2016-0671"],"award-info":[{"award-number":["PICT 2016-0671"]}],"id":[{"id":"10.13039\/501100003074","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003074","name":"Agencia Nacional de Promoci\u00f3n Cient\u00edfica y Tecnol\u00f3gica","doi-asserted-by":"publisher","award":["PICT 2017-0976"],"award-info":[{"award-number":["PICT 2017-0976"]}],"id":[{"id":"10.13039\/501100003074","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003074","name":"Agencia Nacional de Promoci\u00f3n Cient\u00edfica y Tecnol\u00f3gica","doi-asserted-by":"publisher","award":["PICT 2019-1662"],"award-info":[{"award-number":["PICT 2019-1662"]}],"id":[{"id":"10.13039\/501100003074","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002923","name":"Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas","doi-asserted-by":"publisher","award":["2015-0170"],"award-info":[{"award-number":["2015-0170"]}],"id":[{"id":"10.13039\/501100002923","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009573","name":"Universidad Nacional de Rosario","doi-asserted-by":"publisher","award":["BIO573"],"award-info":[{"award-number":["BIO573"]}],"id":[{"id":"10.13039\/100009573","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,12,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Guanine-rich DNA strands can fold into non-canonical four-stranded secondary structures named G-quadruplexes (G4s). G4s folded in proximal promoter regions (PPR) are associated either with positive or negative transcriptional regulation. Given that single nucleotide variants (SNVs) affecting G4 folding (G4-Vars) may alter gene transcription, and that SNVs are associated with the human diseases\u2019 onset, we undertook a novel comprehensive study of the G4-Vars genome-wide (G4-variome) to find disease-associated G4-Vars located into PPRs. We developed a bioinformatics strategy to find disease-related SNVs located into PPRs simultaneously overlapping with putative G4-forming sequences (PQSs). We studied five G4-Vars disturbing in vitro the folding and stability of the G4s located into PPRs, which had been formerly associated with sporadic Alzheimer's disease (GRIN2B), a severe familiar coagulopathy (F7), atopic dermatitis (CSF2), myocardial infarction (SIRT1)\u00a0and deafness (LHFPL5). Results obtained in cultured cells for these five G4-Vars suggest that the changes in the G4s affect the transcription, potentially contributing to the development of the mentioned diseases. Collectively, data reinforce the general idea that G4-Vars may impact on the different susceptibilities to human genetic diseases\u2019 onset, and could be novel targets for diagnosis and drug design in precision medicine.<\/jats:p>","DOI":"10.1093\/nar\/gkad948","type":"journal-article","created":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T16:18:23Z","timestamp":1697127503000},"page":"12124-12139","source":"Crossref","is-referenced-by-count":19,"title":["Genetic variations in G-quadruplex forming sequences affect the transcription of human disease-related genes"],"prefix":"10.1093","volume":"51","author":[{"given":"Agust\u00edn","family":"Lorenzatti","sequence":"first","affiliation":[{"name":"Instituto de Biolog\u00eda Molecular y Celular de Rosario (IBR), Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas (CONICET) - Facultad de Ciencias Bioqu\u00edmicas y Farmac\u00e9uticas, Universidad Nacional de Rosario (UNR) , Ocampo y Esmeralda, Rosario S2000EZP, Santa Fe, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ernesto J","family":"Piga","sequence":"additional","affiliation":[{"name":"Instituto de Biolog\u00eda Molecular y Celular de Rosario (IBR), Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas (CONICET) - Facultad de Ciencias Bioqu\u00edmicas y Farmac\u00e9uticas, Universidad Nacional de Rosario (UNR) , Ocampo y Esmeralda, Rosario S2000EZP, Santa Fe, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mauro","family":"Gismondi","sequence":"additional","affiliation":[{"name":"Centro de Estudios Fotosint\u00e9ticos y Bioqu\u00edmicos (CEFOBI), Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas (CONICET) - Facultad de Ciencias Bioqu\u00edmicas y Farmac\u00e9uticas, Universidad Nacional de Rosario (UNR) , Suipacha 531, Rosario, Santa Fe, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9s","family":"Binolfi","sequence":"additional","affiliation":[{"name":"Instituto de Biolog\u00eda Molecular y Celular de Rosario (IBR), Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas (CONICET) - Facultad de Ciencias Bioqu\u00edmicas y Farmac\u00e9uticas, Universidad Nacional de Rosario (UNR) , Ocampo y Esmeralda, Rosario S2000EZP, Santa Fe, Argentina"},{"name":"Plataforma Argentina de Biolog\u00eda Estructural y Metabol\u00f3mica (PLABEM), Ocampo y Esmeralda , Rosario S200EZP, Santa Fe, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0031-2779","authenticated-orcid":false,"given":"Ezequiel","family":"Margarit","sequence":"additional","affiliation":[{"name":"Centro de Estudios Fotosint\u00e9ticos y Bioqu\u00edmicos (CEFOBI), Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas (CONICET) - Facultad de Ciencias Bioqu\u00edmicas y Farmac\u00e9uticas, Universidad Nacional de Rosario (UNR) , Suipacha 531, Rosario, Santa Fe, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nora\u00a0B","family":"Calcaterra","sequence":"additional","affiliation":[{"name":"Instituto de Biolog\u00eda Molecular y Celular de Rosario (IBR), Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas (CONICET) - Facultad de Ciencias Bioqu\u00edmicas y Farmac\u00e9uticas, Universidad Nacional de Rosario (UNR) , Ocampo y Esmeralda, Rosario S2000EZP, Santa Fe, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0454-1424","authenticated-orcid":false,"given":"Pablo","family":"Armas","sequence":"additional","affiliation":[{"name":"Instituto de Biolog\u00eda Molecular y Celular de Rosario (IBR), Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas (CONICET) - Facultad de Ciencias Bioqu\u00edmicas y Farmac\u00e9uticas, Universidad Nacional de Rosario (UNR) , Ocampo y Esmeralda, Rosario S2000EZP, Santa Fe, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,11,1]]},"reference":[{"key":"2023121117214307500_B1","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/j.tibs.2007.04.003","article-title":"Non-B DNA conformations, mutagenesis and disease","volume":"32","author":"Wells","year":"2007","journal-title":"Trends Biochem. Sci"},{"key":"2023121117214307500_B2","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1080\/21541264.2016.1243505","article-title":"Transcriptional control by G-quadruplexes: in vivo roles and perspectives for specific intervention","volume":"8","author":"Armas","year":"2017","journal-title":"Transcription"},{"key":"2023121117214307500_B3","doi-asserted-by":"crossref","first-page":"1711","DOI":"10.3390\/molecules24091711","article-title":"The presence and localization of G-quadruplex forming sequences in the domain of bacteria","volume":"24","author":"Bartas","year":"2019","journal-title":"Molecules"},{"key":"2023121117214307500_B4","doi-asserted-by":"crossref","first-page":"1349","DOI":"10.3390\/biom10091349","article-title":"G-quadruplexes in the archaea domain","volume":"10","author":"Br\u00e1zda","year":"2020","journal-title":"Biomolecules"},{"key":"2023121117214307500_B5","doi-asserted-by":"crossref","first-page":"3862","DOI":"10.1093\/nar\/gkz179","article-title":"Whole genome experimental maps of DNA G-quadruplexes in multiple species","volume":"47","author":"Marsico","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"2023121117214307500_B6","doi-asserted-by":"crossref","first-page":"10984","DOI":"10.3390\/ijms222010984","article-title":"G-quadruplex targeting in the fight against viruses: an update","volume":"22","author":"Ruggiero","year":"2021","journal-title":"Int. J. Mol. Sci."},{"key":"2023121117214307500_B7","doi-asserted-by":"crossref","first-page":"2908","DOI":"10.1093\/nar\/gki609","article-title":"Prevalence of quadruplexes in the human genome","volume":"33","author":"Huppert","year":"2005","journal-title":"Nucleic Acids Res."},{"key":"2023121117214307500_B8","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1038\/nbt.3295","article-title":"High-throughput sequencing of DNA G-quadruplex structures in the human genome","volume":"33","author":"Chambers","year":"2015","journal-title":"Nat. Biotechnol."},{"key":"2023121117214307500_B9","doi-asserted-by":"crossref","first-page":"5482","DOI":"10.1093\/nar\/gkn517","article-title":"Stability and kinetics of G-quadruplex structures","volume":"36","author":"Lane","year":"2008","journal-title":"Nucleic Acids Res."},{"key":"2023121117214307500_B10","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/S0959-440X(03)00072-1","article-title":"The structure of telomeric DNA","volume":"13","author":"Neidle","year":"2003","journal-title":"Curr. Opin. Struct. Biol."},{"key":"2023121117214307500_B11","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/j.mod.2018.05.004","article-title":"G-quadruplex in animal development: contribution to gene expression and genomic heterogeneity","volume":"154","author":"Armas","year":"2018","journal-title":"Mech. Dev."},{"key":"2023121117214307500_B12","doi-asserted-by":"crossref","first-page":"4163","DOI":"10.1093\/nar\/gkw011","article-title":"G-quadruplexes as novel cis-elements controlling transcription during embryonic development","volume":"44","author":"David","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"2023121117214307500_B13","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/j.bbrc.2020.03.178","article-title":"G-quadruplex in cancer biology and drug discovery","volume":"531","author":"Nakanishi","year":"2020","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"2023121117214307500_B14","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1038\/nsmb982","article-title":"Telomere end-binding proteins control the formation of G-quadruplex DNA structures in vivo","volume":"12","author":"Paeschke","year":"2005","journal-title":"Nat. Struct. Mol. Biol."},{"key":"2023121117214307500_B15","doi-asserted-by":"crossref","first-page":"718","DOI":"10.1038\/350718a0","article-title":"Inhibition of telomerase by G-quartet DNA structures","volume":"350","author":"Zahler","year":"1991","journal-title":"Nature"},{"key":"2023121117214307500_B16","doi-asserted-by":"crossref","first-page":"e56428","DOI":"10.7554\/eLife.56428","article-title":"A mechanism for the extension and unfolding of parallel telomeric G-quadruplexes by human telomerase at single-molecule resolution","volume":"9","author":"Paudel","year":"2020","journal-title":"eLife"},{"key":"2023121117214307500_B17","doi-asserted-by":"crossref","first-page":"2022","DOI":"10.1093\/nar\/gkv063","article-title":"Telomeric repeat-containing RNA\/G-quadruplex-forming sequences cause genome-wide alteration of gene expression in human cancer cells in vivo","volume":"43","author":"Hirashima","year":"2015","journal-title":"Nucleic Acids Res."},{"key":"2023121117214307500_B18","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1038\/nature12149","article-title":"Pif1 family helicases suppress genome instability at G-quadruplex motifs","volume":"497","author":"Paeschke","year":"2013","journal-title":"Nature"},{"key":"2023121117214307500_B19","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1073\/pnas.1810409116","article-title":"DNA damage and genome instability by G-quadruplex ligands are mediated by R loops in human cancer cells","volume":"116","author":"De\u00a0Magis","year":"2019","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"2023121117214307500_B20","doi-asserted-by":"crossref","first-page":"910","DOI":"10.15252\/embr.201540607","article-title":"G4-associated human diseases","volume":"16","author":"Maizels","year":"2015","journal-title":"EMBO Rep."},{"key":"2023121117214307500_B21","doi-asserted-by":"crossref","first-page":"6557","DOI":"10.1007\/s00018-021-03921-8","article-title":"G-quadruplex DNA: a novel target for drug design","volume":"78","author":"Teng","year":"2021","journal-title":"Cell. Mol. Life Sci."},{"key":"2023121117214307500_B22","doi-asserted-by":"crossref","first-page":"8419","DOI":"10.1093\/nar\/gkab609","article-title":"DNA G-quadruplex structures: more than simple roadblocks to transcription?","volume":"49","author":"Robinson","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"2023121117214307500_B23","doi-asserted-by":"crossref","first-page":"713230","DOI":"10.3389\/fgene.2021.713230","article-title":"From GWAS to gene: transcriptome-wide association studies and other methods to functionally understand GWAS discoveries","volume":"12","author":"Li","year":"2021","journal-title":"Front. Genet."},{"key":"2023121117214307500_B24","doi-asserted-by":"crossref","first-page":"1464","DOI":"10.1126\/science.abi8207","article-title":"From variant to function in human disease genetics","volume":"373","author":"Lappalainen","year":"2021","journal-title":"Science"},{"key":"2023121117214307500_B25","doi-asserted-by":"crossref","first-page":"e2013230118","DOI":"10.1073\/pnas.2013230118","article-title":"G-quadruplex structural variations in human genome associated with single-nucleotide variations and their impact on gene activity","volume":"118","author":"Gong","year":"2021","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"2023121117214307500_B26","doi-asserted-by":"crossref","first-page":"3885","DOI":"10.1038\/s41467-021-24198-2","article-title":"Promoter G-quadruplexes and transcription factors cooperate to shape the cell type-specific transcriptome","volume":"12","author":"Lago","year":"2021","journal-title":"Nat. Commun."},{"key":"2023121117214307500_B27","doi-asserted-by":"crossref","first-page":"3800","DOI":"10.1093\/nar\/gkr1258","article-title":"Quadruplex-single nucleotide polymorphisms (Quad-SNP) influence gene expression difference among individuals","volume":"40","author":"Baral","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"2023121117214307500_B28","doi-asserted-by":"crossref","first-page":"1568","DOI":"10.1039\/c3mb25492e","article-title":"Emerging trends in G-quadruplex biology-role in epigenetic and evolutionary events","volume":"9","author":"Baral","year":"2013","journal-title":"Mol. Biosyst."},{"key":"2023121117214307500_B29","doi-asserted-by":"crossref","first-page":"1497","DOI":"10.1093\/nar\/gkaa1269","article-title":"Non-B DNA: a major contributor to small- and large-scale variation in nucleotide substitution frequencies across the genome","volume":"49","author":"Guiblet","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"2023121117214307500_B30","doi-asserted-by":"crossref","first-page":"1264","DOI":"10.1101\/gr.231688.117","article-title":"Noncanonical secondary structures arising from non-B DNA motifs are determinants of mutagenesis","volume":"28","author":"Georgakopoulos-Soares","year":"2018","journal-title":"Genome Res."},{"key":"2023121117214307500_B31","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1038\/s42003-023-05015-6","article-title":"Integrative genomic analyses of promoter G-quadruplexes reveal their selective constraint and association with gene activation","volume":"6","author":"Li","year":"2023","journal-title":"Commun. Biol."},{"key":"2023121117214307500_B32","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.tig.2022.11.005","article-title":"Noncanonical DNA structures are drivers of genome evolution","volume":"39","author":"Makova","year":"2023","journal-title":"Trends Genet."},{"key":"2023121117214307500_B33","doi-asserted-by":"crossref","first-page":"878","DOI":"10.1038\/s41588-020-0672-8","article-title":"Landscape of G-quadruplex DNA structural regions in breast cancer","volume":"52","author":"H\u00e4nsel-Hertsch","year":"2020","journal-title":"Nat. Genet."},{"key":"2023121117214307500_B34","doi-asserted-by":"crossref","first-page":"11997","DOI":"10.1038\/s41598-021-91415-9","article-title":"SNP rs10420324 in the AMPA receptor auxiliary subunit TARP \u03b3-8 regulates the susceptibility to antisocial personality disorder","volume":"11","author":"Peng","year":"2021","journal-title":"Sci. Rep."},{"key":"2023121117214307500_B35","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1038\/s10038-019-0578-4","article-title":"Obstetric complication-associated ANXA5 promoter polymorphisms may affect gene expression via DNA secondary structures","volume":"64","author":"Inagaki","year":"2019","journal-title":"J. Hum. Genet."},{"key":"2023121117214307500_B36","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1016\/j.neulet.2008.10.075","article-title":"Association between NR2B subunit gene (GRIN2B) promoter polymorphisms and sporadic Alzheimer's disease in the North Chinese population","volume":"450","author":"Jiang","year":"2009","journal-title":"Neurosci. Lett."},{"key":"2023121117214307500_B37","doi-asserted-by":"crossref","first-page":"1639","DOI":"10.1182\/blood.V92.5.1639","article-title":"Severe factor VII deficiency due to a mutation disrupting an Sp1 binding site in the factor VII promoter","volume":"92","author":"Carew","year":"1998","journal-title":"Blood"},{"key":"2023121117214307500_B38","doi-asserted-by":"crossref","first-page":"bay119","DOI":"10.1093\/database\/bay119","article-title":"Ensembl variation resources","volume":"2018","author":"Hunt","year":"2018","journal-title":"Database (Oxford)."},{"key":"2023121117214307500_B39","doi-asserted-by":"crossref","first-page":"14535","DOI":"10.1038\/s41598-017-14017-4","article-title":"Machine learning model for sequence-driven DNA G-quadruplex formation","volume":"7","author":"Sahakyan","year":"2017","journal-title":"Sci. Rep."},{"key":"2023121117214307500_B40","doi-asserted-by":"crossref","first-page":"W676","DOI":"10.1093\/nar\/gkl253","article-title":"QGRS Mapper: a web-based server for predicting G-quadruplexes in nucleotide sequences","volume":"34","author":"Kikin","year":"2006","journal-title":"Nucleic Acids Res."},{"key":"2023121117214307500_B41","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1038\/nchem.1548","article-title":"Quantitative visualization of DNA G-quadruplex structures in human cells","volume":"5","author":"Biffi","year":"2013","journal-title":"Nat. Chem."},{"key":"2023121117214307500_B42","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1006\/jmra.1995.1047","article-title":"Water suppression that works. Excitation sculpting using arbitrary wave-forms and pulsed-field gradients","volume":"112","author":"Hwang","year":"1995","journal-title":"J. Magn. Reson., Ser. A"},{"key":"2023121117214307500_B43","doi-asserted-by":"crossref","first-page":"12567","DOI":"10.1021\/jacs.1c04426","article-title":"Identifying G-Quadruplex-DNA-disrupting small molecules","volume":"143","author":"Mitteaux","year":"2021","journal-title":"J. Am. Chem. Soc."},{"key":"2023121117214307500_B44","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1093\/clinchem\/hvaa125","article-title":"The Digital MIQE Guidelines update: minimum information for publication of quantitative digital PCR experiments for 2020","volume":"66","author":"Whale","year":"2020","journal-title":"Clin. Chem."},{"key":"2023121117214307500_B45","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1023\/A:1007917318181","article-title":"Calcium-phosphate mediated DNA transfer into HEK-293 cells in suspension: control of physicochemical parameters allows transfection in stirred media. Transfection and protein expression in mammalian cells","volume":"26","author":"Jordan","year":"1998","journal-title":"Cytotechnology"},{"key":"2023121117214307500_B46","doi-asserted-by":"crossref","first-page":"1940","DOI":"10.12688\/f1000research.18949.1","article-title":"Distinct roles of GRIN2A and GRIN2B variants in neurological conditions","volume":"8","author":"Myers","year":"2019","journal-title":"F1000Res"},{"key":"2023121117214307500_B47","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1016\/S0091-6749(03)01797-4","article-title":"Association between novel GM-CSF gene polymorphisms and the frequency and severity of atopic dermatitis","volume":"112","author":"Rafatpanah","year":"2003","journal-title":"J. Allergy Clin. Immunol."},{"key":"2023121117214307500_B48","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/j.bbrc.2012.08.071","article-title":"Genetic analysis of the SIRT1 gene promoter in myocardial infarction","volume":"426","author":"Cui","year":"2012","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"2023121117214307500_B49","doi-asserted-by":"crossref","first-page":"103592","DOI":"10.1016\/j.ejmg.2018.11.026","article-title":"LHFPL5 mutation: a rare cause of non-syndromic autosomal recessive hearing loss","volume":"62","author":"Al-Amri","year":"2019","journal-title":"Eur. J. Med. Genet."},{"key":"2023121117214307500_B50"},{"key":"2023121117214307500_B51","doi-asserted-by":"crossref","first-page":"3493","DOI":"10.1093\/bioinformatics\/btz087","article-title":"G4Hunter web application: a web server for G-quadruplex prediction","volume":"35","author":"Br\u00e1zda","year":"2019","journal-title":"Bioinformatics"},{"key":"2023121117214307500_B52","doi-asserted-by":"crossref","first-page":"1267","DOI":"10.1038\/ng.3662","article-title":"G-quadruplex structures mark human regulatory chromatin","volume":"48","author":"H\u00e4nsel-Hertsch","year":"2016","journal-title":"Nat. Genet."},{"key":"2023121117214307500_B53","doi-asserted-by":"crossref","first-page":"4618","DOI":"10.1093\/nar\/gkf597","article-title":"Human telomeric DNA: g-quadruplex, i-motif and Watson-Crick double helix","volume":"30","author":"Phan","year":"2002","journal-title":"Nucleic Acids Res."},{"key":"2023121117214307500_B54","doi-asserted-by":"crossref","first-page":"15758","DOI":"10.1021\/ja805615w","article-title":"A novel small molecule that alters shelterin integrity and triggers a DNA-damage response at telomeres","volume":"130","author":"Rodriguez","year":"2008","journal-title":"J. Am. Chem. Soc."},{"key":"2023121117214307500_B55","doi-asserted-by":"crossref","first-page":"102678","DOI":"10.1016\/j.dnarep.2019.102678","article-title":"Identification of putative G-quadruplex DNA structures in S. pombe genome by quantitative PCR stop assay","volume":"82","author":"Jamroskovic","year":"2019","journal-title":"DNA Repair (Amst.)"},{"key":"2023121117214307500_B56","doi-asserted-by":"crossref","first-page":"28304","DOI":"10.1038\/srep28304","article-title":"An engineered tale-transcription factor rescues transcription of factor VII impaired by promoter mutations and enhances its endogenous expression in hepatocytes","volume":"6","author":"Barbon","year":"2016","journal-title":"Sci. Rep."},{"key":"2023121117214307500_B57","doi-asserted-by":"crossref","first-page":"7022","DOI":"10.1093\/nar\/gkq557","article-title":"5\u2032-UTR G-quadruplex structures acting as translational repressors","volume":"38","author":"Beaudoin","year":"2010","journal-title":"Nucleic Acids Res."},{"key":"2023121117214307500_B58","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/j.mce.2011.12.014","article-title":"DNA polymorphisms of the KiSS1 3\u2019 Untranslated region interfere with the folding of a G-rich sequence into G-quadruplex","volume":"351","author":"Huijbregts","year":"2012","journal-title":"Mol. Cell. Endocrinol."},{"key":"2023121117214307500_B59","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1038\/s41598-017-00739-y","article-title":"Cancer-associated noncoding mutations affect RNA G-quadruplex-mediated regulation of gene expression","volume":"7","author":"Zeraati","year":"2017","journal-title":"Sci. Rep."},{"key":"2023121117214307500_B60","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1038\/s41467-020-14404-y","article-title":"Integrative analysis reveals RNA G-quadruplexes in UTRs are selectively constrained and enriched for functional associations","volume":"11","author":"Lee","year":"2020","journal-title":"Nat. Commun."},{"key":"2023121117214307500_B61","doi-asserted-by":"crossref","first-page":"767","DOI":"10.3390\/ijms21030767","article-title":"Characterization of a G-quadruplex structure in pre-miRNA-1229 and in its Alzheimer's Disease-associated variant rs2291418: implications for miRNA-1229 maturation","volume":"21","author":"Imperatore","year":"2020","journal-title":"Int. J. Mol. Sci."},{"key":"2023121117214307500_B62","doi-asserted-by":"crossref","first-page":"5749","DOI":"10.1093\/nar\/gkp590","article-title":"The disruptive positions in human G-quadruplex motifs are less polymorphic and more conserved than their neutral counterparts","volume":"37","author":"Nakken","year":"2009","journal-title":"Nucleic Acids Res."},{"key":"2023121117214307500_B63","doi-asserted-by":"crossref","first-page":"7876","DOI":"10.1038\/s41598-021-86838-3","article-title":"Genome-wide discovery of G-quadruplexes in barley","volume":"11","author":"Cagirici","year":"2021","journal-title":"Sci. Rep."},{"key":"2023121117214307500_B64","doi-asserted-by":"crossref","first-page":"110272","DOI":"10.1016\/j.ygeno.2022.110272","article-title":"Genomic landscape, polymorphism and possible LINE-associated delivery of G-quadruplex motifs in the bovine genes","volume":"114","author":"Stefos","year":"2022","journal-title":"Genomics"},{"key":"2023121117214307500_B65","doi-asserted-by":"crossref","first-page":"8909","DOI":"10.1038\/ncomms9909","article-title":"Mutagenic consequences of a single G-quadruplex demonstrate mitotic inheritance of DNA replication fork barriers","volume":"6","author":"Lemmens","year":"2015","journal-title":"Nat. Commun."},{"key":"2023121117214307500_B66","doi-asserted-by":"crossref","first-page":"95","DOI":"10.3390\/genes10020095","article-title":"Replication of G quadruplex DNA","volume":"10","author":"Lerner","year":"2019","journal-title":"Genes (Basel)"},{"key":"2023121117214307500_B67","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/s41467-017-02760-1","article-title":"BLM helicase suppresses recombination at G-quadruplex motifs in transcribed genes","volume":"9","author":"Van\u00a0Wietmarschen","year":"2018","journal-title":"Nat. Commun."},{"key":"2023121117214307500_B68","doi-asserted-by":"crossref","first-page":"2898","DOI":"10.2174\/0929867325666171229132619","article-title":"The interplay between G-quadruplex and transcription","volume":"26","author":"Kim","year":"2019","journal-title":"Curr. Med. Chem."},{"key":"2023121117214307500_B69","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1101\/gr.277490.122","article-title":"Accurate sequencing of DNA motifs able to form alternative (non-B) structures","volume":"33","author":"Weissensteiner","year":"2023","journal-title":"Genome Res."},{"key":"2023121117214307500_B70","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1101\/gr.269589.120","article-title":"Selection and thermostability suggest G-quadruplexes are novel functional elements of the human genome","volume":"31","author":"Guiblet","year":"2021","journal-title":"Genome Res."},{"key":"2023121117214307500_B71","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1038\/s41594-023-00936-6","article-title":"Revisiting mutagenesis at non-B DNA motifs in the human genome","volume":"30","author":"McGinty","year":"2023","journal-title":"Nat. Struct. Mol. Biol."},{"key":"2023121117214307500_B72","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1186\/s13059-021-02324-z","article-title":"G-quadruplexes are transcription factor binding hubs in human chromatin","volume":"22","author":"Spiegel","year":"2021","journal-title":"Genome Biol."},{"key":"2023121117214307500_B73","doi-asserted-by":"crossref","first-page":"7901","DOI":"10.1093\/nar\/gkz527","article-title":"CNBP controls transcription by unfolding DNA G-quadruplex structures","volume":"47","author":"David","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"2023121117214307500_B74","doi-asserted-by":"crossref","first-page":"1321","DOI":"10.1093\/nar\/gkm1138","article-title":"Conserved elements with potential to form polymorphic G-quadruplex structures in the first intron of human genes","volume":"36","author":"Eddy","year":"2008","journal-title":"Nucleic Acids Res."},{"key":"2023121117214307500_B75","doi-asserted-by":"crossref","first-page":"2700","DOI":"10.1093\/nar\/gkn078","article-title":"The relationship of potential G-quadruplex sequences in cis-upstream regions of the human genome to SP1-binding elements","volume":"36","author":"Todd","year":"2008","journal-title":"Nucleic Acids Res."},{"key":"2023121117214307500_B76","doi-asserted-by":"crossref","first-page":"8005","DOI":"10.1093\/nar\/gkr536","article-title":"Zinc-finger transcription factors are associated with guanine quadruplex motifs in human, chimpanzee, mouse and rat promoters genome-wide","volume":"39","author":"Kumar","year":"2011","journal-title":"Nucleic Acids Res."},{"key":"2023121117214307500_B77","doi-asserted-by":"crossref","first-page":"1499","DOI":"10.1093\/nar\/gkr882","article-title":"A non-canonical DNA structure is a binding motif for the transcription factor SP1 in vitro","volume":"40","author":"Raiber","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"2023121117214307500_B78","doi-asserted-by":"crossref","first-page":"329","DOI":"10.3390\/ijms22010329","article-title":"G-quadruplex modulation of SP1 functional binding sites at the KIT proximal promoter","volume":"22","author":"Da\u00a0Ros","year":"2020","journal-title":"Int. J. Mol. Sci."},{"key":"2023121117214307500_B79","doi-asserted-by":"crossref","first-page":"14029","DOI":"10.1038\/s41598-018-32222-7","article-title":"Identification and characterization of G-quadruplex formation within the EP0 promoter of pseudorabies virus","volume":"8","author":"Kong","year":"2018","journal-title":"Sci. Rep."},{"key":"2023121117214307500_B80","doi-asserted-by":"crossref","first-page":"944","DOI":"10.3390\/molecules23040944","article-title":"CpG methylation changes G-quadruplex structures derived from gene promoters and interaction with VEGF and SP1","volume":"23","author":"Tsukakoshi","year":"2018","journal-title":"Molecules"}],"container-title":["Nucleic Acids Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/nar\/article-pdf\/51\/22\/12124\/54237408\/gkad948.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/nar\/article-pdf\/51\/22\/12124\/54237408\/gkad948.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,12,11]],"date-time":"2023-12-11T20:33:22Z","timestamp":1702326802000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/nar\/article\/51\/22\/12124\/7335746"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,1]]},"references-count":80,"journal-issue":{"issue":"22","published-online":{"date-parts":[[2023,11,1]]},"published-print":{"date-parts":[[2023,12,11]]}},"URL":"https:\/\/doi.org\/10.1093\/nar\/gkad948","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2022.08.16.503999","asserted-by":"object"}]},"ISSN":["0305-1048","1362-4962"],"issn-type":[{"value":"0305-1048","type":"print"},{"value":"1362-4962","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2023,12,11]]},"published":{"date-parts":[[2023,11,1]]}}}