{"PubmedArticle":{"MedlineCitation":{"@attributes":{"Status":"MEDLINE","Owner":"NLM","IndexingMethod":"Manual"},"PMID":{"@attributes":{"Version":"1"},"@text":"28974727"},"DateCompleted":{"Year":"2019","Month":"06","Day":"25"},"DateRevised":{"Year":"2019","Month":"06","Day":"25"},"Article":{"@attributes":{"PubModel":"Electronic"},"Journal":{"ISSN":{"@attributes":{"IssnType":"Electronic"},"@text":"2045-2322"},"JournalIssue":{"@attributes":{"CitedMedium":"Internet"},"Volume":"7","Issue":"1","PubDate":{"Year":"2017","Month":"Oct","Day":"03"}},"Title":"Scientific reports","ISOAbbreviation":"Sci Rep"},"ArticleTitle":"Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy.","Pagination":{"StartPage":"12575","MedlinePgn":"12575"},"ELocationID":[{"@attributes":{"EIdType":"pii","ValidYN":"Y"},"@text":"12575"},{"@attributes":{"EIdType":"doi","ValidYN":"Y"},"@text":"10.1038\/s41598-017-12981-5"}],"Abstract":{"AbstractText":["Duchenne muscular dystrophy (DMD) is a muscular dystrophy with high incidence of learning and behavioural problems and is associated with neurodevelopmental disorders. To gain more insights into the role of dystrophin in this cognitive phenotype, we performed a comprehensive analysis of the expression patterns of dystrophin isoforms across human brain development, using unique transcriptomic data from Allen Human Brain and BrainSpan atlases. Dystrophin isoforms show large changes in expression through life with pronounced differences between the foetal and adult human brain. The Dp140 isoform was expressed in the cerebral cortex only in foetal life stages, while in the cerebellum it was also expressed postnatally. The Purkinje isoform Dp427p was virtually absent. The expression of dystrophin isoforms was significantly associated with genes implicated in neurodevelopmental disorders, like autism spectrum disorders or attention-deficit hyper-activity disorders, which are known to be associated to DMD. We also identified relevant functional associations of the different isoforms, like an association with axon guidance or neuron differentiation during early development. Our results point to the crucial role of several dystrophin isoforms in the development and function of the human brain."]},"AuthorList":{"@attributes":{"CompleteYN":"Y"},"Author":[{"@attributes":{"ValidYN":"Y"},"LastName":"Doorenweerd","ForeName":"Nathalie","Initials":"N","AffiliationInfo":[{"Affiliation":"C.J. Gorter Center for High Field MRI, Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands. N.Doorenweerd@lumc.nl."},{"Affiliation":"Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands. N.Doorenweerd@lumc.nl."},{"Affiliation":"Leiden Institute for Brain and Cognition, Leiden University, Leiden, The Netherlands. N.Doorenweerd@lumc.nl."},{"Affiliation":"John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle Upon Tyne, United Kingdom. N.Doorenweerd@lumc.nl."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Mahfouz","ForeName":"Ahmed","Initials":"A","Identifier":[{"@attributes":{"Source":"ORCID"},"@text":"0000-0001-8601-2149"}],"AffiliationInfo":[{"Affiliation":"Division of Image Processing, Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands."},{"Affiliation":"Delft Bioinformatics Lab, Delft University of Technology, Delft, The Netherlands."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"van Putten","ForeName":"Maaike","Initials":"M","AffiliationInfo":[{"Affiliation":"Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Kaliyaperumal","ForeName":"Rajaram","Initials":"R","AffiliationInfo":[{"Affiliation":"Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"T' Hoen","ForeName":"Peter A C","Initials":"PAC","AffiliationInfo":[{"Affiliation":"Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Hendriksen","ForeName":"Jos G M","Initials":"JGM","AffiliationInfo":[{"Affiliation":"Department of Neurological Learning Disabilities, Kempenhaeghe Epilepsy Center, Heeze, The Netherlands."},{"Affiliation":"Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Aartsma-Rus","ForeName":"Annemieke M","Initials":"AM","AffiliationInfo":[{"Affiliation":"Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Verschuuren","ForeName":"Jan J G M","Initials":"JJGM","Identifier":[{"@attributes":{"Source":"ORCID"},"@text":"0000-0002-4572-1501"}],"AffiliationInfo":[{"Affiliation":"Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Niks","ForeName":"Erik H","Initials":"EH","AffiliationInfo":[{"Affiliation":"Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Reinders","ForeName":"Marcel J T","Initials":"MJT","Identifier":[{"@attributes":{"Source":"ORCID"},"@text":"0000-0002-1148-1562"}],"AffiliationInfo":[{"Affiliation":"Delft Bioinformatics Lab, Delft University of Technology, Delft, The Netherlands."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Kan","ForeName":"Hermien E","Initials":"HE","AffiliationInfo":[{"Affiliation":"C.J. Gorter Center for High Field MRI, Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands."},{"Affiliation":"Leiden Institute for Brain and Cognition, Leiden University, Leiden, The Netherlands."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Lelieveldt","ForeName":"Boudewijn P F","Initials":"BPF","Identifier":[{"@attributes":{"Source":"ORCID"},"@text":"0000-0001-8269-7603"}],"AffiliationInfo":[{"Affiliation":"Division of Image Processing, Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands."},{"Affiliation":"Delft Bioinformatics Lab, Delft University of Technology, Delft, The Netherlands."}]}]},"Language":["eng"],"PublicationTypeList":{"PublicationType":[{"@attributes":{"UI":"D016428"},"@text":"Journal Article"},{"@attributes":{"UI":"D013485"},"@text":"Research Support, Non-U.S. Gov't"}]},"ArticleDate":[{"@attributes":{"DateType":"Electronic"},"Year":"2017","Month":"10","Day":"03"}]},"MedlineJournalInfo":{"Country":"England","MedlineTA":"Sci Rep","NlmUniqueID":"101563288","ISSNLinking":"2045-2322"},"ChemicalList":{"Chemical":[{"RegistryNumber":"0","NameOfSubstance":{"@attributes":{"UI":"D016189"},"@text":"Dystrophin"}},{"RegistryNumber":"0","NameOfSubstance":{"@attributes":{"UI":"D020033"},"@text":"Protein Isoforms"}}]},"CitationSubset":["IM"],"CommentsCorrectionsList":{"CommentsCorrections":[{"@attributes":{"RefType":"ErratumIn"},"RefSource":"Sci Rep. 2018 Mar 1;8(1):4058. doi: 10.1038\/s41598-018-22154-7.","PMID":{"@attributes":{"Version":"1"},"@text":"29497163"}}]},"MeshHeadingList":{"MeshHeading":[{"DescriptorName":{"@attributes":{"UI":"D000067877","MajorTopicYN":"N"},"@text":"Autism Spectrum 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Duchenne"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"Y"},"@text":"genetics"},{"@attributes":{"UI":"Q000378","MajorTopicYN":"N"},"@text":"metabolism"},{"@attributes":{"UI":"Q000503","MajorTopicYN":"N"},"@text":"physiopathology"}]},{"DescriptorName":{"@attributes":{"UI":"D009154","MajorTopicYN":"N"},"@text":"Mutation"}},{"DescriptorName":{"@attributes":{"UI":"D009474","MajorTopicYN":"N"},"@text":"Neurons"},"QualifierName":[{"@attributes":{"UI":"Q000378","MajorTopicYN":"N"},"@text":"metabolism"}]},{"DescriptorName":{"@attributes":{"UI":"D009483","MajorTopicYN":"N"},"@text":"Neuropsychological Tests"}},{"DescriptorName":{"@attributes":{"UI":"D010641","MajorTopicYN":"N"},"@text":"Phenotype"}},{"DescriptorName":{"@attributes":{"UI":"D020033","MajorTopicYN":"N"},"@text":"Protein Isoforms"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"Y"},"@text":"genetics"}]},{"DescriptorName":{"@attributes":{"UI":"D011689","MajorTopicYN":"N"},"@text":"Purkinje Cells"},"QualifierName":[{"@attributes":{"UI":"Q000378","MajorTopicYN":"N"},"@text":"metabolism"},{"@attributes":{"UI":"Q000473","MajorTopicYN":"N"},"@text":"pathology"}]},{"DescriptorName":{"@attributes":{"UI":"D059467","MajorTopicYN":"N"},"@text":"Transcriptome"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"N"},"@text":"genetics"}]}]},"CoiStatement":"The authors declare that they have no competing interests."},"PubmedData":{"History":{"PubMedPubDate":[{"@attributes":{"PubStatus":"received"},"Year":"2017","Month":"2","Day":"1"},{"@attributes":{"PubStatus":"accepted"},"Year":"2017","Month":"9","Day":"13"},{"@attributes":{"PubStatus":"entrez"},"Year":"2017","Month":"10","Day":"5","Hour":"6","Minute":"0"},{"@attributes":{"PubStatus":"pubmed"},"Year":"2017","Month":"10","Day":"5","Hour":"6","Minute":"0"},{"@attributes":{"PubStatus":"medline"},"Year":"2019","Month":"6","Day":"27","Hour":"6","Minute":"0"},{"@attributes":{"PubStatus":"pmc-release"},"Year":"2017","Month":"10","Day":"3"}]},"PublicationStatus":"epublish","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pubmed"},"@text":"28974727"},{"@attributes":{"IdType":"pmc"},"@text":"PMC5626779"},{"@attributes":{"IdType":"doi"},"@text":"10.1038\/s41598-017-12981-5"},{"@attributes":{"IdType":"pii"},"@text":"10.1038\/s41598-017-12981-5"}]},"ReferenceList":[{"Reference":[{"Citation":"Cotton S, Voudouris NJ, Greenwood KM. 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