{"id":"https://openalex.org/W3000574869","doi":null,"title":"Induced pluripotent stem cell (iPSC) modelling for the identification of mechanisms behind neurodevelopmental disorders","display_name":"Induced pluripotent stem cell (iPSC) modelling for the identification of mechanisms behind neurodevelopmental disorders","publication_year":2020,"publication_date":"2020-01-01","ids":{"openalex":"https://openalex.org/W3000574869","mag":"3000574869"},"language":"en","primary_location":{"id":"pmh:oai:DiVA.org:uu-398620","doi":null,"is_oa":true,"landing_page_url":"http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-398620","pdf_url":null,"source":{"id":"https://openalex.org/S4306402042","display_name":"Uppsala University Publications (Uppsala University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I123387679","host_organization_name":"Uppsala University","host_organization_lineage":["https://openalex.org/I123387679"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/doctoralThesis"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-398620","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5075001717","display_name":"Loora Laan","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Loora Laan","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5075001717"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10505","display_name":"Pluripotent Stem Cells Research","score":0.9940999746322632,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T10505","display_name":"Pluripotent Stem Cells Research","score":0.9940999746322632,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T10608","display_name":"Neurogenesis and neuroplasticity mechanisms","score":0.001500000013038516,"subfield":{"id":"https://openalex.org/subfields/2806","display_name":"Developmental 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/T11015","display_name":"Down syndrome and intellectual disability research","score":0.000699999975040555,"subfield":{"id":"https://openalex.org/subfields/2739","display_name":"Public Health, Environmental and Occupational Health"},"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/neurodevelopmental-disorders","display_name":"neurodevelopmental disorders","score":0.8289999961853027},{"id":"https://openalex.org/keywords/down-syndrome","display_name":"Down syndrome","score":0.9950000047683716},{"id":"https://openalex.org/keywords/dravet-syndrome","display_name":"Dravet syndrome","score":0.9980000257492065},{"id":"https://openalex.org/keywords/scn1a","display_name":"SCN1A","score":0.9340000152587891},{"id":"https://openalex.org/keywords/neurofascin-186","display_name":"neurofascin 186","score":0.9079999923706055},{"id":"https://openalex.org/keywords/ataxia","display_name":"ataxia","score":0.9340000152587891},{"id":"https://openalex.org/keywords/ipsc-derived-neurons","display_name":"iPSC-derived neurons","score":0.7540000081062317},{"id":"https://openalex.org/keywords/neuronal-differentiation","display_name":"neuronal differentiation","score":0.949999988079071},{"id":"https://openalex.org/keywords/mitochondrial-dysfunction","display_name":"mitochondrial dysfunction","score":0.6620000004768372},{"id":"https://openalex.org/keywords/energy-metabolism","display_name":"energy metabolism","score":0.8610000014305115},{"id":"https://openalex.org/keywords/dna-methylation","display_name":"DNA methylation","score":0.9240000247955322},{"id":"https://openalex.org/keywords/differentially-methylated-genes","display_name":"differentially methylated genes","score":0.7870000004768372},{"id":"https://openalex.org/keywords/chromatin-remodeling","display_name":"chromatin remodeling","score":0.8579999804496765},{"id":"https://openalex.org/keywords/gabaergic-interneurons","display_name":"GABAergic interneurons","score":0.9660000205039978},{"id":"https://openalex.org/keywords/epilepsy","display_name":"epilepsy","score":0.8500000238418579},{"id":"https://openalex.org/keywords/electrophysiology","display_name":"electrophysiology","score":0.7129999995231628},{"id":"https://openalex.org/keywords/stress-sensitivity","display_name":"stress sensitivity","score":0.6710000038146973},{"id":"https://openalex.org/keywords/disease-biomarkers","display_name":"disease biomarkers","score":0.5550000071525574},{"id":"https://openalex.org/keywords/neuropathogenesis","display_name":"neuropathogenesis","score":0.6389999985694885}],"concepts":[{"id":"https://openalex.org/C107459253","wikidata":"https://www.wikidata.org/wiki/Q674925","display_name":"Induced pluripotent stem cell","level":4,"score":0.8284884095191956},{"id":"https://openalex.org/C116834253","wikidata":"https://www.wikidata.org/wiki/Q2039217","display_name":"Identification (biology)","level":2,"score":0.6483111381530762},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.43277400732040405},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4034704566001892},{"id":"https://openalex.org/C145103041","wikidata":"https://www.wikidata.org/wiki/Q1151519","display_name":"Embryonic stem cell","level":3,"score":0.40257537364959717},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3598998188972473},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.3234637975692749},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.19528725743293762},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1135852038860321},{"id":"https://openalex.org/C59822182","wikidata":"https://www.wikidata.org/wiki/Q441","display_name":"Botany","level":1,"score":0.0}],"mesh":[],"locations_count":2,"locations":[{"id":"pmh:oai:DiVA.org:uu-398620","doi":null,"is_oa":true,"landing_page_url":"http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-398620","pdf_url":null,"source":{"id":"https://openalex.org/S4306402042","display_name":"Uppsala University Publications (Uppsala University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I123387679","host_organization_name":"Uppsala University","host_organization_lineage":["https://openalex.org/I123387679"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/doctoralThesis"},{"id":"mag:3000574869","doi":null,"is_oa":false,"landing_page_url":"http://uu.diva-portal.org/smash/record.jsf?pid=diva2:1376592","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":{"id":"pmh:oai:DiVA.org:uu-398620","doi":null,"is_oa":true,"landing_page_url":"http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-398620","pdf_url":null,"source":{"id":"https://openalex.org/S4306402042","display_name":"Uppsala University Publications (Uppsala University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I123387679","host_organization_name":"Uppsala University","host_organization_lineage":["https://openalex.org/I123387679"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/doctoralThesis"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.979200005531311}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2025012646","https://openalex.org/W2935956293","https://openalex.org/W4380680711","https://openalex.org/W2021800885","https://openalex.org/W3029872206","https://openalex.org/W2943191169","https://openalex.org/W3082396221","https://openalex.org/W7128907237","https://openalex.org/W212483003","https://openalex.org/W2771193518"],"abstract_inverted_index":{"Human":[0],"induced":[1],"pluripotent":[2],"stem":[3],"cells":[4,131],"(iPSCs)":[5],"have":[6],"opened":[7],"new":[8],"possibilities":[9],"to":[10,15,28,70,174,310,375],"recapitulate":[11],"disease":[12,337],"mechanisms":[13,75,315],"and":[14,53,73,90,115,125,140,169,188,202,246,267,297,313,323,346,363],"model":[16,29,98,159],"disorders":[17],"in":[18,32,49,61,79,128,207,238,272,326],"vitro.":[19],"In":[20,83,145,209,250],"the":[21,50,62,80,86,93,152,196,203,273,339,372],"studies":[22],"presented":[23],"here,":[24],"iPSCs":[25,218,288,308],"were":[26,183],"established":[27,259],"neural":[30,97,109,130,158,257,287,307],"differentiation":[31],"Down":[33],"syndrome":[34,44,266],"(DS),":[35],"caused":[36,46,57,199],"by":[37,47,58,200,242],"trisomy":[38],"for":[39,161,165,185,281,358],"chromosome":[40],"21":[41],"(T21);":[42],"Dravet":[43],"(DRS),":[45],"variants":[48],"SCN1A":[51],"gene;":[52],"an":[54,232,264],"ataxia":[55,265],"syndrome,":[56],"a":[59,116,141,175,224,261,268,277,364],"variant":[60,271],"NFASC":[63,274],"gene.":[64],"The":[65,179,284,300,351],"major":[66],"aim":[67],"has":[68],"been":[69],"uncover":[71],"molecular":[72,312],"cellular":[74,314,324],"behind":[76],"perturbed":[77,101,142],"neurogenesis":[78],"three":[81,329],"disorders.":[82],"Paper":[84,146,210,251],"I,":[85],"analysis":[87],"of":[88,92,118,155,235,328,334,349,355,368,378],"transcriptomes":[89],"proteomes":[91],"DS":[94,162],"iPSC":[95,156],"derived":[96,286,306],"revealed":[99],"several":[100],"gene":[102,170,227],"clusters":[103],"with":[104,133,263,317,332,343,371],"strong":[105],"temporal":[106],"dynamics":[107],"along":[108],"differentiation,":[110,292],"markedly":[111],"down-regulated":[112],"mitochondrial":[113],"genes":[114,168,182,236],"dysregulation":[117,206],"hub":[119],"proteins.":[120],"These":[121],"results":[122,340],"predict":[123],"complex":[124],"genome-wide":[126],"changes":[127],"T21":[129,201],"associated":[132,316],"prolonged":[134],"cell":[135,138,282],"cycle,":[136],"reduced":[137,293],"growth":[139],"energy":[143],"metabolism.":[144],"II,":[147],"it":[148,212,253],"was":[149,163,213,254],"demonstrated":[150],"that":[151,215,256,304],"transcriptional":[153,186,205],"profile":[154],"based":[157],"system":[160],"enriched":[164,184],"differentially":[166,180],"methylated":[167,181],"families":[171],"when":[172],"compared":[173],"corresponding":[176],"euploid":[177],"model.":[178],"regulation":[187],"chromatin":[189,239],"structure,":[190],"suggesting":[191],"novel":[192,269,335,369],"mechanistic":[193],"links":[194],"between":[195],"genomic":[197],"imbalance":[198],"global":[204],"DS.":[208],"III,":[211],"shown":[214,255],"DRS":[216],"patient":[217,262,285,305],"differentiated":[219],"into":[220,360],"GABAergic":[221],"interneurons":[222],"exhibit":[223],"dysregulated":[225,321],"epilepsy":[226],"network":[228],"as":[229,231],"well":[230],"altered":[233,298],"expression":[234],"involved":[237],"remodelling,":[240],"accompanied":[241],"abnormal":[243],"electrophysiological":[244],"properties":[245],"increased":[247],"stress":[248],"sensitivity.":[249],"IV,":[252],"iPSCs,":[258],"from":[260],"homozygous":[270],"gene,":[275],"lack":[276],"full-length":[278],"neurofascin-186":[279],"important":[280],"adhesion.":[283],"showed":[289],"delayed":[290],"neuronal":[291],"sprouting,":[294],"shorter":[295],"neurites":[296],"electrophysiology.":[299],"Papers":[301],"I-IV":[302],"show":[303],"enable":[309],"identify":[311],"neuropathogenesis.":[318],"Besides":[319],"specific":[320],"pathways":[322],"defects":[325],"models":[327],"developmental":[330],"disorders,":[331],"shortlists":[333],"candidate":[336],"biomarkers,":[338],"are":[341],"consistent":[342],"prior":[344],"data":[345],"clinical":[347,361],"presentation":[348],"patients.":[350],"knowledge":[352],"gained":[353],"is":[354],"paramount":[356],"importance":[357],"translation":[359],"settings":[362],"step":[365],"towards":[366],"development":[367],"therapies":[370],"ultimate":[373],"goal":[374],"alleviate":[376],"symptoms":[377],"affected":[379],"individuals.":[380]},"counts_by_year":[],"updated_date":"2026-09-04T10:56:28.161419","created_date":"2020-01-23T00:00:00"}