{"id":"https://openalex.org/W7062860784","doi":null,"title":"Transcriptomic and protein expression analyses of skeletal muscles isolated from Ts1cje mouse model for Down syndrome","display_name":"Transcriptomic and protein expression analyses of skeletal muscles isolated from Ts1cje mouse model for Down syndrome","publication_year":2017,"publication_date":"2017-05-01","ids":{"openalex":"https://openalex.org/W7062860784"},"language":"en","primary_location":{"id":"pmh:oai:psasir.upm.edu.my:70541","doi":null,"is_oa":true,"landing_page_url":"http://psasir.upm.edu.my/id/eprint/70541/1/FPSK%28M%29%202017%2051%20-%20IR.pdf","pdf_url":"http://psasir.upm.edu.my/id/eprint/70541/1/FPSK%28M%29%202017%2051%20-%20IR.pdf","source":{"id":"https://openalex.org/S4377196260","display_name":"Universiti Putra Malaysia Institutional Repository (Universiti Putra Malaysia)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I130343225","host_organization_name":"Universiti Putra Malaysia","host_organization_lineage":["https://openalex.org/I130343225"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"Thesis"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://psasir.upm.edu.my/id/eprint/70541/1/FPSK%28M%29%202017%2051%20-%20IR.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5050739471","display_name":"Melody Pui-Yee Leong","orcid":"https://orcid.org/0000-0002-1481-5644","observed_orcids":["https://orcid.org/0000-0002-1481-5644"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Leong, Melody Pui Yee","raw_affiliation_strings":["Sains Kesihatan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sains Kesihatan","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5050739471"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":true,"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":true,"primary_topic":{"id":"https://openalex.org/T11015","display_name":"Down syndrome and intellectual disability research","score":0.8173999786376953,"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"}},"topics":[{"id":"https://openalex.org/T11015","display_name":"Down syndrome and intellectual disability research","score":0.8173999786376953,"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"}},{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.17870000004768372,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.0003000000142492354,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/down-syndrome","display_name":"Down syndrome","score":0.9950000047683716},{"id":"https://openalex.org/keywords/trisomy-16","display_name":"trisomy 16","score":0.7699999809265137},{"id":"https://openalex.org/keywords/skeletal-muscle-weakness","display_name":"skeletal muscle weakness","score":0.7680000066757202},{"id":"https://openalex.org/keywords/hypotonia","display_name":"hypotonia","score":0.9819999933242798},{"id":"https://openalex.org/keywords/gene-overexpression","display_name":"gene overexpression","score":0.6330000162124634},{"id":"https://openalex.org/keywords/intersectin-1","display_name":"ITSN1","score":0.7870000004768372},{"id":"https://openalex.org/keywords/synaptojanin-1","display_name":"SYNJ1","score":0.9929999709129333},{"id":"https://openalex.org/keywords/rcan1","display_name":"RCAN1","score":0.9990000128746033},{"id":"https://openalex.org/keywords/myogenic-regulatory-factors","display_name":"myogenic regulatory factors","score":0.8230000138282776},{"id":"https://openalex.org/keywords/myod","display_name":"MyoD","score":0.9269999861717224},{"id":"https://openalex.org/keywords/myf5","display_name":"Myf5","score":0.972000002861023},{"id":"https://openalex.org/keywords/soleus-muscle","display_name":"soleus muscle","score":0.7710000276565552},{"id":"https://openalex.org/keywords/extensor-digitorum-longus","display_name":"extensor digitorum longus","score":0.9879999756813049},{"id":"https://openalex.org/keywords/myogenesis","display_name":"myogenesis","score":0.6050000190734863}],"concepts":[{"id":"https://openalex.org/C2779546488","wikidata":"https://www.wikidata.org/wiki/Q1753547","display_name":"Hypotonia","level":2,"score":0.5392000079154968},{"id":"https://openalex.org/C2779959927","wikidata":"https://www.wikidata.org/wiki/Q1048687","display_name":"Skeletal muscle","level":2,"score":0.48570001125335693},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.438400000333786},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4050000011920929},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.37450000643730164},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3528999984264374},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.34880000352859497},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.32739999890327454},{"id":"https://openalex.org/C162317418","wikidata":"https://www.wikidata.org/wiki/Q252857","display_name":"Transcriptome","level":4,"score":0.3118000030517578},{"id":"https://openalex.org/C2776418732","wikidata":"https://www.wikidata.org/wiki/Q270421","display_name":"Muscle weakness","level":2,"score":0.30570000410079956},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.2700999975204468},{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.27000001072883606}],"mesh":[],"locations_count":1,"locations":[{"id":"pmh:oai:psasir.upm.edu.my:70541","doi":null,"is_oa":true,"landing_page_url":"http://psasir.upm.edu.my/id/eprint/70541/1/FPSK%28M%29%202017%2051%20-%20IR.pdf","pdf_url":"http://psasir.upm.edu.my/id/eprint/70541/1/FPSK%28M%29%202017%2051%20-%20IR.pdf","source":{"id":"https://openalex.org/S4377196260","display_name":"Universiti Putra Malaysia Institutional Repository (Universiti Putra Malaysia)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I130343225","host_organization_name":"Universiti Putra Malaysia","host_organization_lineage":["https://openalex.org/I130343225"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"Thesis"}],"best_oa_location":{"id":"pmh:oai:psasir.upm.edu.my:70541","doi":null,"is_oa":true,"landing_page_url":"http://psasir.upm.edu.my/id/eprint/70541/1/FPSK%28M%29%202017%2051%20-%20IR.pdf","pdf_url":"http://psasir.upm.edu.my/id/eprint/70541/1/FPSK%28M%29%202017%2051%20-%20IR.pdf","source":{"id":"https://openalex.org/S4377196260","display_name":"Universiti Putra Malaysia Institutional Repository (Universiti Putra Malaysia)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I130343225","host_organization_name":"Universiti Putra Malaysia","host_organization_lineage":["https://openalex.org/I130343225"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"Thesis"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.8371999859809875,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7062860784.pdf","grobid_xml":"https://content.openalex.org/works/W7062860784.grobid-xml"},"referenced_works_count":146,"referenced_works":["https://openalex.org/W37714309","https://openalex.org/W1219561347","https://openalex.org/W1517655341","https://openalex.org/W1573544812","https://openalex.org/W1574335089","https://openalex.org/W1586675360","https://openalex.org/W1896896388","https://openalex.org/W1967435037","https://openalex.org/W1968742628","https://openalex.org/W1969963261","https://openalex.org/W1970156673","https://openalex.org/W1973539014","https://openalex.org/W1980309511","https://openalex.org/W1981142391","https://openalex.org/W1982170312","https://openalex.org/W1984858667","https://openalex.org/W1987510426","https://openalex.org/W1991156619","https://openalex.org/W1996375567","https://openalex.org/W1999119314","https://openalex.org/W2003407908","https://openalex.org/W2005786191","https://openalex.org/W2006121336","https://openalex.org/W2006124071","https://openalex.org/W2010597204","https://openalex.org/W2012637211","https://openalex.org/W2013029756","https://openalex.org/W2013386989","https://openalex.org/W2014340763","https://openalex.org/W2015638013","https://openalex.org/W2016112105","https://openalex.org/W2019549706","https://openalex.org/W2021511482","https://openalex.org/W2026420884","https://openalex.org/W2027054035","https://openalex.org/W2027846882","https://openalex.org/W2028746987","https://openalex.org/W2031807933","https://openalex.org/W2032202075","https://openalex.org/W2036812869","https://openalex.org/W2037454811","https://openalex.org/W2038707732","https://openalex.org/W2040114944","https://openalex.org/W2043346651","https://openalex.org/W2045038402","https://openalex.org/W2045767200","https://openalex.org/W2046273251","https://openalex.org/W2047709977","https://openalex.org/W2048112943","https://openalex.org/W2048597699","https://openalex.org/W2051270310","https://openalex.org/W2051753710","https://openalex.org/W2053951608","https://openalex.org/W2057707351","https://openalex.org/W2062410886","https://openalex.org/W2064358122","https://openalex.org/W2065227225","https://openalex.org/W2065566217","https://openalex.org/W2066300263","https://openalex.org/W2070118536","https://openalex.org/W2073700418","https://openalex.org/W2075591675","https://openalex.org/W2080592158","https://openalex.org/W2081098333","https://openalex.org/W2083134914","https://openalex.org/W2084233122","https://openalex.org/W2084697692","https://openalex.org/W2085702771","https://openalex.org/W2086847347","https://openalex.org/W2086859163","https://openalex.org/W2087226319","https://openalex.org/W2088240093","https://openalex.org/W2088291608","https://openalex.org/W2089288161","https://openalex.org/W2089592507","https://openalex.org/W2092101573","https://openalex.org/W2093624975","https://openalex.org/W2093647265","https://openalex.org/W2095233739","https://openalex.org/W2097045133","https://openalex.org/W2099015011","https://openalex.org/W2099304566","https://openalex.org/W2099773194","https://openalex.org/W2100268379","https://openalex.org/W2100825208","https://openalex.org/W2102144395","https://openalex.org/W2105360761","https://openalex.org/W2107034836","https://openalex.org/W2107768418","https://openalex.org/W2108690261","https://openalex.org/W2108723188","https://openalex.org/W2111401548","https://openalex.org/W2112930007","https://openalex.org/W2113055433","https://openalex.org/W2114658094","https://openalex.org/W2115588415","https://openalex.org/W2115829812","https://openalex.org/W2117261784","https://openalex.org/W2117694333","https://openalex.org/W2119719996","https://openalex.org/W2122209646","https://openalex.org/W2124544599","https://openalex.org/W2125668543","https://openalex.org/W2128527424","https://openalex.org/W2128928681","https://openalex.org/W2129709886","https://openalex.org/W2130025116","https://openalex.org/W2131017387","https://openalex.org/W2133656140","https://openalex.org/W2134774579","https://openalex.org/W2136999480","https://openalex.org/W2138664009","https://openalex.org/W2141044457","https://openalex.org/W2141287490","https://openalex.org/W2141645735","https://openalex.org/W2144835441","https://openalex.org/W2148101811","https://openalex.org/W2148635688","https://openalex.org/W2150430904","https://openalex.org/W2151464048","https://openalex.org/W2151498944","https://openalex.org/W2152092203","https://openalex.org/W2152508103","https://openalex.org/W2154549928","https://openalex.org/W2155022366","https://openalex.org/W2156213970","https://openalex.org/W2158217645","https://openalex.org/W2161348707","https://openalex.org/W2161351634","https://openalex.org/W2161893150","https://openalex.org/W2162740265","https://openalex.org/W2162994928","https://openalex.org/W2163146580","https://openalex.org/W2166059867","https://openalex.org/W2170021540","https://openalex.org/W2170237019","https://openalex.org/W2172074513","https://openalex.org/W2267073504","https://openalex.org/W2313356399","https://openalex.org/W2318061945","https://openalex.org/W2330529209","https://openalex.org/W2338570682","https://openalex.org/W2509229026","https://openalex.org/W2515338047","https://openalex.org/W2614575602","https://openalex.org/W7140244441"],"related_works":["https://openalex.org/W7028264966","https://openalex.org/W2889139116","https://openalex.org/W2513662939","https://openalex.org/W6987541843","https://openalex.org/W2922282384","https://openalex.org/W2514116634","https://openalex.org/W2995818387","https://openalex.org/W6992779409","https://openalex.org/W2515338047","https://openalex.org/W6997129996"],"abstract_inverted_index":{"Down":[0],"Syndrome":[1],"(DS)":[2],"is":[3,15,88,130,141],"caused":[4,601],"by":[5,17,514,529,602],"an":[6,253,582],"additional":[7],"copy":[8],"of":[9,53,64,80,96,106,138,238,255,269,306,315,342,348,363,373,381,394,412,425,437,460,536,538,549,557,565,584,598,606,620],"human":[10],"chromosome":[11,98],"21":[12],"(HSA21).":[13],"It":[14],"characterised":[16,125],"several":[18],"clinical":[19],"phenotypes":[20],"such":[21],"as":[22,123,568],"intellectual":[23],"disability,":[24],"facial":[25],"features,":[26],"early":[27],"onset":[28],"dementia,":[29],"weak":[30],"immune":[31],"system":[32],"and":[33,56,71,77,153,189,191,211,224,250,261,266,280,325,345,351,378,433,435,440,448,453,456,475,493,522,555,562,575,623],"hypotonia.":[34],"Deficits":[35],"in":[36,66,82,146,150,163,186,202,263,288,302,331,333,368,389,471,510,525,551,559,573,588,612,640],"motor":[37],"functions":[38],"happens":[39],"throughout":[40],"development":[41,188,424],"among":[42],"DS":[43,67,83,90],"individuals":[44,68,133],"leading":[45,159],"to":[46,117,132,160,181,197,298,467,570,609],"muscle":[47,127,161,187,204,610,638],"weakness,":[48],"joint":[49],"hyperextensibility,":[50],"delayed":[51],"acquisition":[52],"postural":[54],"control":[55,226],"poor":[57],"balance.":[58],"To":[59,165],"date,":[60],"the":[61,75,143,155,169,178,209,256,270,293,303,316,337,343,349,496,499,539,543,585,593,596,599,603,618,624,633],"underlying":[62,634],"cause":[63],"hypotonia":[65,81],"remains":[69],"unknown":[70],"limited":[72],"studies":[73],"on":[74,312,376,397,617,632],"pathophysiological":[76],"molecular":[78,157],"characterisation":[79],"could":[84],"be":[85,299,468],"found.":[86],"Ts1Cje":[87,151,203,222,271,307,350,511,526,552,566,589,641],"a":[89,103,361,379,547],"mouse":[91,97,111],"model":[92,112],"with":[93,126,134,371,392,495],"partial":[94],"trisomy":[95],"16":[99],"(MMU16),":[100],"which":[101,464],"encompasses":[102],"high":[104],"number":[105],"HSA21":[107],"orthologous":[108],"genes.":[109,501],"This":[110],"has":[113],"been":[114],"well":[115,124],"reported":[116],"exhibit":[118],"various":[119],"typical":[120],"neuropathological":[121],"features":[122],"weakness":[128,162,611,639],"that":[129,142,505,595],"similar":[131],"DS.":[135],"The":[136,273,482,502],"hypothesis":[137,594],"this":[139,167,207],"study":[140,170,182,196],"trisomic":[144,500,540,586],"genes":[145,200,241,258,275,386,463,483,507,541,587,600,622],"MMU16":[147,377,398,607],"are":[148],"over-expressed":[149],"mice":[152,223,354,567],"disrupts":[154],"functional":[156,418,443],"networks,":[158],"Ts1Cje.":[164,613],"test":[166],"hypothesis,":[168],"was":[171,292,357,478],"divided":[172],"into":[173],"two":[174,537],"major":[175],"parts":[176],"namely":[177,322],"targeted":[179,338],"approach":[180],"selected":[183,240,462],"important":[184],"markers":[185],"function,":[190],"global":[192],"transcriptomic":[193,340],"gene":[194,296,438],"expression":[195,289,332,626],"identify":[198],"novel":[199],"involved":[201],"weakness.":[205],"In":[206],"study,":[208,339],"soleus":[210,265,304,344,369,421,473,512,553,561],"extensor":[212],"digitorum":[213],"longus":[214],"(EDL)":[215],"skeletal":[216,590],"muscles":[217,268,305,347,370,391,474,477,513,528,554,564],"were":[218,465,484,508],"harvested":[219],"from":[220],"both":[221,264,334,472,560],"disomic":[225,274,295,353],"mice.":[227,272,308],"Reverse":[228],"transcription":[229],"quantitative":[230],"real":[231],"time":[232],"polymerase":[233],"chain":[234],"reaction":[235],"(RT-qPCR)":[236],"analysis":[237,311,503,535],"nine":[239,461],"Lamc1,":[242,276],"Leprel1,":[243,277],"Myl6b,":[244],"Msn,":[245,278],"Pgm5,":[246],"Tmod1,":[247],"Istn1,":[248],"Synj1":[249,260],"Rcan1":[251,262],"showed":[252,327,360,415,504,546,581],"upregulation":[254],"triplicated":[257,604],"Itsn1,":[259],"EDL":[267,346,390,446,476,527,563],"Pgm5":[279],"Tmod1":[281],"did":[282],"not":[283],"show":[284],"any":[285],"significant":[286,329,417,442],"dysregulation":[287,597],"while":[290,518],"Myl6b":[291],"only":[294,519],"found":[297,367,388,466],"significantly":[300],"upregulated":[301,509,524,572],"Western":[309,533],"blot":[310,534],"three":[313],"proteins":[314],"myogenic":[317],"regulatory":[318],"factors":[319],"(MRFs)":[320],"family":[321],"MyoD,":[323],"Myf5":[324],"Myg":[326],"no":[328],"difference":[330],"muscles.":[335],"Following":[336],"profiling":[341],"wild-type":[352],"using":[355,480],"microarray":[356,574],"performed.":[358],"Results":[359],"total":[362,380],"166":[364],"coding":[365,383],"DEGs":[366,414],"37":[372],"them":[374,395],"located":[375,396],"262":[382],"differentially":[384,469],"expressed":[385,470],"(DEGs)":[387],"13":[393],"(p-value":[399],"\u2264":[400],"0.05,":[401],"absolute":[402],"fold":[403,517],"change":[404],"(abs":[405],"FC)":[406],"\u2265":[407,515,530],"1.5).":[408],"Functional":[409],"annotation":[410],"clustering":[411],"these":[413,579,621],"5":[416],"clusters":[419,444],"for":[420,445,637],"(signal":[422],"transduction;":[423],"reproductive":[426],"system;":[427],"nucleic":[428],"acid":[429],"biosynthesis;":[430],"protein":[431,451,544,625],"modification":[432,452],"metabolism":[434],"regulation":[436],"expression)":[439],"3":[441],"(neuron":[447],"cell":[449],"development;":[450],"metabolic":[454],"processes;":[455],"ion":[457],"transport).":[458],"Validation":[459],"performed":[479],"RT-qPCR.":[481],"Cdk13,":[485],"Mansc1,":[486],"Ifnar1,":[487],"Ifnar2,":[488],"Donson,":[489],"Dyrk1a,":[490],"Runx1,":[491],"Sod1,":[492],"Tmem50b":[494],"later":[497],"7":[498],"all":[506],"1.5":[516,531],"Don,":[520],"Ifnar2":[521,558],"Tmem50bwere":[523],"fold.":[532],"at":[542],"level":[545],"downregulation":[548,556],"Ifnar1":[550],"oppose":[569],"being":[571],"RT-qPCR":[576],"analysis.":[577],"Collectively,":[578],"findings":[580],"overexpression":[583],"muscles,":[591],"validating":[592],"region":[605],"leads":[608],"However,":[614],"further":[615,630],"investigation":[616],"role":[619],"levels":[627],"may":[628],"provide":[629],"insight":[631],"mechanism":[635],"responsible":[636]},"counts_by_year":[],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2025-10-10T00:00:00"}
