{"id":"https://openalex.org/W2920746292","doi":"https://doi.org/10.3390/brainsci9030052","title":"Repeat Instability in the Fragile X-Related Disorders: Lessons from a Mouse Model","display_name":"Repeat Instability in the Fragile X-Related Disorders: Lessons from a Mouse Model","publication_year":2019,"publication_date":"2019-03-01","ids":{"openalex":"https://openalex.org/W2920746292","doi":"https://doi.org/10.3390/brainsci9030052","mag":"2920746292","pmid":"https://pubmed.ncbi.nlm.nih.gov/30832215"},"language":"en","primary_location":{"id":"doi:10.3390/brainsci9030052","doi":"https://doi.org/10.3390/brainsci9030052","is_oa":true,"landing_page_url":"https://doi.org/10.3390/brainsci9030052","pdf_url":"https://www.mdpi.com/2076-3425/9/3/52/pdf?version=1551435581","source":{"id":"https://openalex.org/S122317144","display_name":"Brain Sciences","issn_l":"2076-3425","issn":["2076-3425"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","norway-1","poland-100","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Brain Sciences","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.mdpi.com/2076-3425/9/3/52/pdf?version=1551435581","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5010953658","display_name":"Xiao-Nan Zhao","orcid":"https://orcid.org/0000-0001-7281-3914","observed_orcids":["https://orcid.org/0000-0001-7281-3914"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210090567","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090567"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Xiaonan Zhao","raw_affiliation_strings":["Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA"],"raw_orcid":"https://orcid.org/0000-0001-7281-3914","affiliations":[{"raw_affiliation_string":"Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210090567"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042562449","display_name":"Inbal Gazy","orcid":"https://orcid.org/0000-0003-3944-6977","observed_orcids":["https://orcid.org/0000-0003-3944-6977"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210090567","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090567"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Inbal Gazy","raw_affiliation_strings":["Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210090567"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112842124","display_name":"Bruce E. Hayward","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210090567","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090567"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Bruce Hayward","raw_affiliation_strings":["Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210090567"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078685235","display_name":"El\u0131\u0301zabeth Pintado","orcid":"https://orcid.org/0000-0002-5237-5045","observed_orcids":["https://orcid.org/0000-0002-5237-5045"]},"institutions":[{"id":"https://openalex.org/I4210090436","display_name":"Hospital Universitario Virgen Macarena","ror":"https://ror.org/016p83279","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210090436"]},{"id":"https://openalex.org/I79238269","display_name":"Universidad de Sevilla","ror":"https://ror.org/03yxnpp24","country_code":"ES","type":"education","lineage":["https://openalex.org/I79238269"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Elizabeth Pintado","raw_affiliation_strings":["Department of Medical Biochemistry and Molecular Biology, School of Medicine, University Hospital Virgen Macarena, University of Seville, 41009 Seville, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Biochemistry and Molecular Biology, School of Medicine, University Hospital Virgen Macarena, University of Seville, 41009 Seville, Spain","institution_ids":["https://openalex.org/I4210090436","https://openalex.org/I79238269"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031491421","display_name":"Ye Hyun Hwang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210160527","display_name":"University of California Davis Medical Center","ror":"https://ror.org/05t6gpm70","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210160527","https://openalex.org/I4210160856"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ye Hyun Hwang","raw_affiliation_strings":["Department of Biochemistry and Molecular Medicine and MIND Institute, UC Davis Medical Center, Sacramento, CA 95817, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry and Molecular Medicine and MIND Institute, UC Davis Medical Center, Sacramento, CA 95817, USA","institution_ids":["https://openalex.org/I4210160527"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011023379","display_name":"Flora Tassone","orcid":"https://orcid.org/0000-0002-6388-9180","observed_orcids":["https://orcid.org/0000-0002-6388-9180"]},"institutions":[{"id":"https://openalex.org/I4210160527","display_name":"University of California Davis Medical Center","ror":"https://ror.org/05t6gpm70","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210160527","https://openalex.org/I4210160856"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Flora Tassone","raw_affiliation_strings":["Department of Biochemistry and Molecular Medicine and MIND Institute, UC Davis Medical Center, Sacramento, CA 95817, USA"],"raw_orcid":"https://orcid.org/0000-0002-6388-9180","affiliations":[{"raw_affiliation_string":"Department of Biochemistry and Molecular Medicine and MIND Institute, UC Davis Medical Center, Sacramento, CA 95817, USA","institution_ids":["https://openalex.org/I4210160527"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5043197316","display_name":"Karen Usdin","orcid":"https://orcid.org/0000-0003-3295-0740","observed_orcids":["https://orcid.org/0000-0003-3295-0740"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210090567","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090567"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Karen Usdin","raw_affiliation_strings":["Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210090567"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5043197316"],"corresponding_institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210090567"],"apc_list":{"value":1400,"currency":"CHF","value_usd":1418},"apc_paid":{"value":1400,"currency":"CHF","value_usd":1418},"fwci":2.3036,"has_fulltext":true,"cited_by_count":22,"citation_normalized_percentile":{"value":0.87988325,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":94,"max":98},"biblio":{"volume":"9","issue":"3","first_page":"52","last_page":"52"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11369","display_name":"Genetic factors in colorectal cancer","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/fmr1","display_name":"FMR1 gene","score":0.8270000219345093},{"id":"https://openalex.org/keywords/cgg-repeat-expansion","display_name":"CGG repeat expansion","score":0.9160000085830688},{"id":"https://openalex.org/keywords/repeat-instability","display_name":"repeat instability","score":0.9599999785423279},{"id":"https://openalex.org/keywords/fmr1-premutation","display_name":"fragile X premutation","score":0.6840000152587891},{"id":"https://openalex.org/keywords/knock-in-mice","display_name":"knock-in mice","score":0.8270000219345093}],"concepts":[{"id":"https://openalex.org/C2779063550","wikidata":"https://www.wikidata.org/wiki/Q905435","display_name":"FMR1","level":4,"score":0.772733211517334},{"id":"https://openalex.org/C166252455","wikidata":"https://www.wikidata.org/wiki/Q6736610","display_name":"Trinucleotide repeat expansion","level":4,"score":0.6327283978462219},{"id":"https://openalex.org/C3020422209","wikidata":"https://www.wikidata.org/wiki/Q221472","display_name":"Fragile x","level":3,"score":0.5943001508712769},{"id":"https://openalex.org/C2777630245","wikidata":"https://www.wikidata.org/wiki/Q221472","display_name":"Fragile X syndrome","level":2,"score":0.5480964779853821},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.536307692527771},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.5148164629936218},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.49472901225090027},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.474933922290802},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.45554864406585693},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4382469952106476},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3086515963077545},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.26199015974998474},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.1423276662826538}],"mesh":[],"locations_count":9,"locations":[{"id":"doi:10.3390/brainsci9030052","doi":"https://doi.org/10.3390/brainsci9030052","is_oa":true,"landing_page_url":"https://doi.org/10.3390/brainsci9030052","pdf_url":"https://www.mdpi.com/2076-3425/9/3/52/pdf?version=1551435581","source":{"id":"https://openalex.org/S122317144","display_name":"Brain Sciences","issn_l":"2076-3425","issn":["2076-3425"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","norway-1","poland-100","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Brain Sciences","raw_type":"journal-article"},{"id":"pmid:30832215","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/30832215","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Brain sciences","raw_type":"Journal Article"},{"id":"pmh:oai:dnet:idus________::33ff00d78dbfb54a29f84d6a91317c45","doi":null,"is_oa":true,"landing_page_url":"https://idus.us.es/handle//11441/87957","pdf_url":null,"source":{"id":"https://openalex.org/S4306402641","display_name":"LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Cient\u00edficas)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4383465926","host_organization_name":"LA Referencia","host_organization_lineage":["https://openalex.org/I4383465926"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:europepmc.org:5459627","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6468611","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:6468611","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6468611","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Brain Sci","raw_type":"Text"},{"id":"pmh:oai:doaj.org/article:4e2120e0e7cc49658afa71f4728a3b22","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/4e2120e0e7cc49658afa71f4728a3b22","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Brain Sciences, Vol 9, Iss 3, p 52 (2019)","raw_type":"article"},{"id":"pmh:oai:escholarship.org/ark:/13030/qt8548t8kf","doi":null,"is_oa":false,"landing_page_url":"https://escholarship.org/uc/item/8548t8kf","pdf_url":null,"source":{"id":"https://openalex.org/S4306400115","display_name":"eScholarship (California Digital Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2801248553","host_organization_name":"California Digital Library","host_organization_lineage":["https://openalex.org/I2801248553"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Brain sciences, vol 9, iss 3","raw_type":"article"},{"id":"pmh:oai:escholarship.org:ark:/13030/qt8548t8kf","doi":null,"is_oa":true,"landing_page_url":"https://escholarship.org/uc/item/8548t8kf","pdf_url":null,"source":{"id":"https://openalex.org/S4306400115","display_name":"eScholarship (California Digital Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2801248553","host_organization_name":"California Digital Library","host_organization_lineage":["https://openalex.org/I2801248553"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Brain Sciences, vol 9, iss 3","raw_type":"article"},{"id":"pmh:oai:idus.us.es:11441/87957","doi":null,"is_oa":true,"landing_page_url":"https://idus.us.es/handle//11441/87957","pdf_url":null,"source":{"id":"https://openalex.org/S4306400333","display_name":"idUS (Universidad de Sevilla)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I79238269","host_organization_name":"Universidad de Sevilla","host_organization_lineage":["https://openalex.org/I79238269"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.3390/brainsci9030052","doi":"https://doi.org/10.3390/brainsci9030052","is_oa":true,"landing_page_url":"https://doi.org/10.3390/brainsci9030052","pdf_url":"https://www.mdpi.com/2076-3425/9/3/52/pdf?version=1551435581","source":{"id":"https://openalex.org/S122317144","display_name":"Brain Sciences","issn_l":"2076-3425","issn":["2076-3425"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","norway-1","poland-100","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Brain Sciences","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.8371999859809875,"id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[{"display_name":"Good health and well-being","score":0.5299999713897705,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G2754739720","display_name":"Mechanism of repeat expansion and chromosome fragility in Fragile X syndrome","funder_award_id":"Z01DK057808","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G9000054382","display_name":null,"funder_award_id":"DK057808","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2920746292.pdf","grobid_xml":"https://content.openalex.org/works/W2920746292.grobid-xml"},"referenced_works_count":80,"referenced_works":["https://openalex.org/W54625229","https://openalex.org/W1045959496","https://openalex.org/W1624928428","https://openalex.org/W1827283817","https://openalex.org/W1895398290","https://openalex.org/W1964924484","https://openalex.org/W1967489111","https://openalex.org/W1968330084","https://openalex.org/W1972561496","https://openalex.org/W1972746354","https://openalex.org/W1975477508","https://openalex.org/W1980083127","https://openalex.org/W1986071629","https://openalex.org/W1991070590","https://openalex.org/W1995582468","https://openalex.org/W1995758127","https://openalex.org/W1996128764","https://openalex.org/W2005078842","https://openalex.org/W2005136252","https://openalex.org/W2008270359","https://openalex.org/W2008972787","https://openalex.org/W2009224736","https://openalex.org/W2019832293","https://openalex.org/W2020598859","https://openalex.org/W2022257681","https://openalex.org/W2025133427","https://openalex.org/W2026287180","https://openalex.org/W2028943546","https://openalex.org/W2040151444","https://openalex.org/W2052442164","https://openalex.org/W2052936741","https://openalex.org/W2053985384","https://openalex.org/W2062806377","https://openalex.org/W2063677087","https://openalex.org/W2071471236","https://openalex.org/W2077751281","https://openalex.org/W2082920621","https://openalex.org/W2085155163","https://openalex.org/W2085885623","https://openalex.org/W2090700988","https://openalex.org/W2094847130","https://openalex.org/W2112483783","https://openalex.org/W2113629413","https://openalex.org/W2117000474","https://openalex.org/W2123586144","https://openalex.org/W2143106924","https://openalex.org/W2145802742","https://openalex.org/W2147339768","https://openalex.org/W2154205324","https://openalex.org/W2166206378","https://openalex.org/W2166846065","https://openalex.org/W2168607514","https://openalex.org/W2169464106","https://openalex.org/W2172178788","https://openalex.org/W2176639363","https://openalex.org/W2265759920","https://openalex.org/W2296503691","https://openalex.org/W2342089554","https://openalex.org/W2406793602","https://openalex.org/W2482376058","https://openalex.org/W2510280335","https://openalex.org/W2522674394","https://openalex.org/W2528365870","https://openalex.org/W2529728286","https://openalex.org/W2541892650","https://openalex.org/W2549151030","https://openalex.org/W2722517739","https://openalex.org/W2747570851","https://openalex.org/W2749208916","https://openalex.org/W2755528949","https://openalex.org/W2800730942","https://openalex.org/W2819511603","https://openalex.org/W2885681398","https://openalex.org/W2897494947","https://openalex.org/W2899438194","https://openalex.org/W2906203237","https://openalex.org/W2969075052","https://openalex.org/W4239532046","https://openalex.org/W4247343992","https://openalex.org/W6684996750"],"related_works":["https://openalex.org/W1710017602","https://openalex.org/W2129698270","https://openalex.org/W2206878491","https://openalex.org/W2085938114","https://openalex.org/W4300497241","https://openalex.org/W4243896457","https://openalex.org/W2024192983","https://openalex.org/W2096167627","https://openalex.org/W223852733","https://openalex.org/W2789548112"],"abstract_inverted_index":{"The":[0],"fragile":[1],"X-related":[2],"disorders":[3],"(FXDs)":[4],"are":[5,33],"a":[6,21,87],"group":[7],"of":[8,20,27,40,63,83,96],"clinical":[9],"conditions":[10],"that":[11,52],"result":[12],"primarily":[13],"from":[14,86],"an":[15],"unusual":[16,65],"mutation,":[17],"the":[18,28,60,64,94],"expansion":[19],"CGG-repeat":[22],"tract":[23],"in":[24,43],"exon":[25],"1":[26],"FMR1":[29,105],"gene.":[30],"Mouse":[31],"models":[32,54],"proving":[34],"useful":[35,57],"for":[36,58,68,101],"understanding":[37,59],"many":[38],"aspects":[39],"disease":[41],"pathology":[42],"these":[44,69,97],"disorders.":[45,70],"There":[46],"is":[47],"also":[48],"reason":[49],"to":[50,79],"think":[51],"such":[53],"may":[55,99],"be":[56,100],"molecular":[61],"basis":[62],"mutation":[66],"responsible":[67],"This":[71],"review":[72],"will":[73],"discuss":[74],"what":[75,93],"has":[76],"been":[77],"learnt":[78],"date":[80],"about":[81],"mechanisms":[82],"repeat":[84],"instability":[85],"knock-in":[88],"FXD":[89],"mouse":[90],"model":[91],"and":[92],"implications":[95],"findings":[98],"humans":[102],"carrying":[103],"expansion-prone":[104],"alleles.":[106]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":3},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":6},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":2}],"updated_date":"2026-10-15T10:00:46.086208","created_date":"2025-10-10T00:00:00"}