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Transcriptional regulator PRDM12 is essential for human pain perception

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dc.creatorChen, Ya-Chunspa
dc.creatorAuer-Grumbach, Michaelaspa
dc.creatorMatsukawa, Shinyaspa
dc.creatorZitzelsberger, Manuelaspa
dc.creatorThemistocleous, Andreas Cspa
dc.creatorStrom, Tim Mspa
dc.creatorSamara, Chrysanthispa
dc.creatorMoore, Adrian Wspa
dc.creatorCho, Lily Ting-Yinspa
dc.creatorYoung, Gareth Tspa
dc.creatorWeiss, Caeciliaspa
dc.creatorSchabhüttl, Mariaspa
dc.creatorStucka, Rolfspa
dc.creatorSchmid, Annina Bspa
dc.creatorParman, Yesimspa
dc.creatorGraul-Neumann, Luitgardspa
dc.creatorHeinritz, Wolframspa
dc.creatorPassarge, Eberhardspa
dc.creatorWatson, Rosemarie Mspa
dc.creatorHertz, Jens Michaelspa
dc.creatorMoog, Utespa
dc.creatorBaumgartner, Manuelaspa
dc.creatorValente, Enza Mariaspa
dc.creatorPereira, Diegospa
dc.creatorRestrepo Fernández, Carlos Martín
dc.creatorKatona, Istvanspa
dc.creatorDusl, Marinaspa
dc.creatorStendel, Claudiaspa
dc.creatorWieland, Thomasspa
dc.creatorStafford, Fayspa
dc.creatorReimann, Frankspa
dc.creatorvon Au, Katjaspa
dc.creatorFinke, Christianspa
dc.creatorWillems, Patrick Jspa
dc.creatorNahorski, Michael Sspa
dc.creatorShaikh, Samiha Sspa
dc.creatorCarvalho, Ofélia Pspa
dc.creatorNicholas, Adeline Kspa
dc.creatorKarbani, Gulshanspa
dc.creatorMcAleer, Maeve Aspa
dc.creatorCilio, Maria Robertaspa
dc.creatorMcHugh, John Cspa
dc.creatorMurphy, Sinead Mspa
dc.creatorIrvine, Alan Dspa
dc.creatorJensen, Uffe Birkspa
dc.creatorWindhager, Reinhardspa
dc.creatorWeis, Joachimspa
dc.creatorBergmann, Carstenspa
dc.creatorRautenstrauss, Berndspa
dc.creatorBaets, Jonathanspa
dc.creatorDe Jonghe, Peterspa
dc.creatorReilly, Mary Mspa
dc.creatorKropatsch, Reginaspa
dc.creatorKurth, Ingospa
dc.creatorChrast, Romanspa
dc.creatorMichiue, Tatsuospa
dc.creatorBennett, David L Hspa
dc.creatorWoods, C Geoffreyspa
dc.creatorSenderek, Janspa
dc.date.accessioned2020-05-25T23:57:17Z
dc.date.available2020-05-25T23:57:17Z
dc.date.created2015spa
dc.description.abstractPain perception has evolved as a warning mechanism to alert organisms to tissue damage and dangerous environments. In humans, however, undesirable, excessive or chronic pain is a common and major societal burden for which available medical treatments are currently suboptimal. New therapeutic options have recently been derived from studies of individuals with congenital insensitivity to pain (CIP). Here we identified 10 different homozygous mutations in PRDM12 (encoding PRDI-BF1 and RIZ homology domain-containing protein 12) in subjects with CIP from 11 families. Prdm proteins are a family of epigenetic regulators that control neural specification and neurogenesis. We determined that Prdm12 is expressed in nociceptors and their progenitors and participates in the development of sensory neurons in Xenopus embryos. Moreover, CIP-associated mutants abrogate the histone-modifying potential associated with wild-type Prdm12. Prdm12 emerges as a key factor in the orchestration of sensory neurogenesis and may hold promise as a target for new pain therapeutics. © 2015 Nature America, Inc. All rights reserved.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1038/ng.3308
dc.identifier.issn10614036
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22640
dc.language.isoengspa
dc.publisherNature Publishing Groupspa
dc.relation.citationEndPage808
dc.relation.citationIssueNo. 7
dc.relation.citationStartPage803
dc.relation.citationTitleNature Genetics
dc.relation.citationVolumeVol. 47
dc.relation.ispartofNature Genetics, ISSN:10614036, Vol.47, No.7 (2015); pp. 803-808spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84933279454&doi=10.1038%2fng.3308&partnerID=40&md5=ca9374a99d6301b792daf4863418a653spa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordIsoproteinspa
dc.subject.keywordhumaneng
dc.subject.keywordUnclassified drugspa
dc.subject.keywordCarrier proteinspa
dc.subject.keywordNerve proteinspa
dc.subject.keywordPrdm12 proteineng
dc.subject.keywordAnimal cellspa
dc.subject.keywordArticlespa
dc.subject.keywordAutonomic innervationspa
dc.subject.keywordBasement membranespa
dc.subject.keywordCell nucleusspa
dc.subject.keywordCellular distributionspa
dc.subject.keywordChromosome 9spa
dc.subject.keywordChronic painspa
dc.subject.keywordCodonspa
dc.subject.keywordCongenital analgesiaspa
dc.subject.keywordCornea reflexspa
dc.subject.keywordCytoplasmspa
dc.subject.keywordDifferentiationspa
dc.subject.keywordEmbryospa
dc.subject.keywordEmbryo developmentspa
dc.subject.keywordHeterozygotespa
dc.subject.keywordHistone methylationspa
dc.subject.keywordHistone modificationspa
dc.subject.keywordHumanspa
dc.subject.keywordIn situ hybridizationspa
dc.subject.keywordMissense mutationspa
dc.subject.keywordNervous system developmentspa
dc.subject.keywordNeural crest cellspa
dc.subject.keywordNociceptionspa
dc.subject.keywordNonhumanspa
dc.subject.keywordPain receptorspa
dc.subject.keywordPhenotypespa
dc.subject.keywordPoint mutationspa
dc.subject.keywordPriority journalspa
dc.subject.keywordProtein expressionspa
dc.subject.keywordProtein functionspa
dc.subject.keywordProtein interactionspa
dc.subject.keywordSensory nerve cellspa
dc.subject.keywordSodium currentspa
dc.subject.keywordSural nervespa
dc.subject.keywordTissue injuryspa
dc.subject.keywordXenopusspa
dc.subject.keywordAnimalspa
dc.subject.keywordChlorocebus aethiopsspa
dc.subject.keywordConsanguinityspa
dc.subject.keywordCos 1 cell linespa
dc.subject.keywordFemalespa
dc.subject.keywordGenetic associationspa
dc.subject.keywordGeneticsspa
dc.subject.keywordMalespa
dc.subject.keywordMetabolismspa
dc.subject.keywordMutationspa
dc.subject.keywordNeuropathyspa
dc.subject.keywordPedigreespa
dc.subject.keywordSingle nucleotide polymorphismspa
dc.subject.keywordXenopus laevisspa
dc.subject.keywordAnimalsspa
dc.subject.keywordCarrier proteinsspa
dc.subject.keywordCercopithecus aethiopsspa
dc.subject.keywordConsanguinityspa
dc.subject.keywordCos cellsspa
dc.subject.keywordFemalespa
dc.subject.keywordGenetic association studiesspa
dc.subject.keywordHereditary sensory and autonomic neuropathiesspa
dc.subject.keywordHumansspa
dc.subject.keywordMalespa
dc.subject.keywordMutationspa
dc.subject.keywordNerve tissue proteinsspa
dc.subject.keywordNeurogenesisspa
dc.subject.keywordNociceptorsspa
dc.subject.keywordPain insensitivityeng
dc.subject.keywordPain perceptionspa
dc.subject.keywordPedigreespa
dc.subject.keywordPolymorphismeng
dc.subject.keywordXenopus laevisspa
dc.titleTranscriptional regulator PRDM12 is essential for human pain perceptionspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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