{"id":"https://openalex.org/W75772879","doi":null,"title":"Acid-labile subunit deficiency: phenotypic similarities and differences between human and mouse.","display_name":"Acid-labile subunit deficiency: phenotypic similarities and differences between human and mouse.","publication_year":2005,"publication_date":"2005-01-01","ids":{"openalex":"https://openalex.org/W75772879","mag":"75772879","pmid":"https://pubmed.ncbi.nlm.nih.gov/16114275"},"language":"en","primary_location":{"id":"pmid:16114275","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16114275","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":"Journal of endocrinological investigation","raw_type":"Journal Article"},"volume":null,"type":"article","indexed_in":["pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5066199265","display_name":"Horacio M. Domen\u00e9","orcid":"https://orcid.org/0000-0002-1969-9486","observed_orcids":["https://orcid.org/0000-0002-1969-9486"]},"institutions":[{"id":"https://openalex.org/I4210166344","display_name":"Hospital General de Ni\u00f1os Ricardo Gutierrez","ror":"https://ror.org/05te51w08","country_code":"AR","type":"healthcare","lineage":["https://openalex.org/I4210166344"]}],"countries":["AR"],"is_corresponding":false,"raw_author_name":"H M Domen\u00e9","raw_affiliation_strings":["Endocrinology Research Center, Division of Endocrinology, R. Guti\u00e9rrez Children's Hospital, Buenos Aires, Argentina. hdomene@cedie.org.ar"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Endocrinology Research Center, Division of Endocrinology, R. Guti\u00e9rrez Children's Hospital, Buenos Aires, Argentina. hdomene@cedie.org.ar","institution_ids":["https://openalex.org/I4210166344"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020516636","display_name":"Sonia Viviana Bengolea","orcid":"https://orcid.org/0000-0001-9205-2286","observed_orcids":["https://orcid.org/0000-0001-9205-2286"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S V Bengolea","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060793471","display_name":"H\u00e9ctor Jasper","orcid":"https://orcid.org/0000-0002-3451-8647","observed_orcids":["https://orcid.org/0000-0002-3451-8647"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"H G Jasper","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5113455401","display_name":"Y R Boisclair","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Y R Boisclair","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":4.3518,"has_fulltext":false,"cited_by_count":61,"citation_normalized_percentile":{"value":0.94234475,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"28","issue":"5 Suppl","first_page":"43","last_page":"6"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10748","display_name":"Growth Hormone and Insulin-like Growth Factors","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T10748","display_name":"Growth Hormone and Insulin-like Growth Factors","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T11928","display_name":"Genetic Syndromes and Imprinting","score":0.0,"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/T11310","display_name":"Connective tissue disorders research","score":0.0,"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/acid-labile-subunit","display_name":"acid-labile subunit","score":0.9470000267028809},{"id":"https://openalex.org/keywords/igfals","display_name":"IGFALS","score":0.7149999737739563},{"id":"https://openalex.org/keywords/insulin-like-growth-factor-i","display_name":"insulin-like growth factor I","score":0.9100000262260437},{"id":"https://openalex.org/keywords/igf-ii","display_name":"insulin-like growth factor II","score":0.9589999914169312},{"id":"https://openalex.org/keywords/igfbp-3","display_name":"IGFBP-3","score":0.8569999933242798},{"id":"https://openalex.org/keywords/igf-i-binding-proteins","display_name":"IGF-I binding proteins","score":0.5130000114440918},{"id":"https://openalex.org/keywords/growth-retardation","display_name":"growth retardation","score":0.7319999933242798},{"id":"https://openalex.org/keywords/insulin-resistance","display_name":"insulin resistance","score":0.7599999904632568},{"id":"https://openalex.org/keywords/bone-mineral-density","display_name":"bone mineral density","score":0.859000027179718},{"id":"https://openalex.org/keywords/growth-hormone","display_name":"growth hormone","score":0.7710000276565552},{"id":"https://openalex.org/keywords/delayed-puberty","display_name":"delayed puberty","score":0.9649999737739563},{"id":"https://openalex.org/keywords/animal-models","display_name":"animal models","score":0.32899999618530273}],"concepts":[{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.7033612728118896},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.6594430804252625},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5546485781669617},{"id":"https://openalex.org/C104292427","wikidata":"https://www.wikidata.org/wiki/Q899781","display_name":"Protein subunit","level":3,"score":0.5313147902488708},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5140396356582642},{"id":"https://openalex.org/C2778024521","wikidata":"https://www.wikidata.org/wiki/Q55639806","display_name":"Basal (medicine)","level":3,"score":0.4591786861419678},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.4473603367805481},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.4369150698184967},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.42680564522743225},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.40237241983413696},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3564189076423645},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.2695397734642029},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.26750946044921875},{"id":"https://openalex.org/C2779306644","wikidata":"https://www.wikidata.org/wiki/Q2002370","display_name":"Insulin","level":2,"score":0.21130695939064026},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.19630160927772522},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.09710168838500977}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002352","descriptor_name":"Carrier Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006023","descriptor_name":"Glycoproteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006130","descriptor_name":"Growth Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006130","descriptor_name":"Growth Disorders","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007334","descriptor_name":"Insulin-Like Growth Factor I","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018345","descriptor_name":"Mice, Knockout","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:16114275","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16114275","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":"Journal of endocrinological investigation","raw_type":"Journal Article"},{"id":"mag:75772879","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16114275","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9391000270843506}],"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/W2019548209","https://openalex.org/W2135762116","https://openalex.org/W1978972152","https://openalex.org/W21865161","https://openalex.org/W2037812648","https://openalex.org/W2083584980","https://openalex.org/W3029492608","https://openalex.org/W2547502266","https://openalex.org/W2098065500","https://openalex.org/W2164826326"],"abstract_inverted_index":{"IGF-I":[0,26,41,150,280,297],"and":[1,29,47,63,80,124,139,151,160,174,203,219,243,255,294,301],"IGF-II":[2,28],"(IGFs)":[3],"form":[4,226],"higher":[5],"molecular":[6],"weight":[7],"complexes":[8,17,23,35],"with":[9,86],"specific":[10,304],"binding":[11],"proteins":[12],"(IGFBP-1":[13],"to":[14,20,60,98,225],"-6).":[15],"These":[16,265],"are":[18,214],"referred":[19],"as":[21,33,52],"binary":[22],"consisting":[24,37],"of":[25,38,40,70,83,103,149,209,236,272,277,292,303],"or":[27,32,42,45],"one":[30],"IGFBP,":[31],"ternary":[34,227],"each":[36],"either":[39],"IGF-II,":[43],"IGFBP-3":[44,152],"-5,":[46],"an":[48,71,87],"acid-labile":[49],"subunit":[50],"known":[51],"ALS.":[53],"Ternary":[54],"complex":[55],"formation":[56],"restricts":[57],"the":[58,61,68,81,91,96,100,107,121,125,135,141,162,171,178,185,191,223,230,237,245,250,268,275,278,289],"IGFs":[59],"circulation":[62],"prolongs":[64],"their":[65],"half-life.":[66],"Recently,":[67],"development":[69],"animal":[72],"model":[73],"for":[74],"ALS":[75,111,137,205,211,263,273],"deficiency":[76,112],"(the":[77],"ALS-KO":[78,122,158,172,192],"mouse)":[79],"identification":[82],"a":[84],"patient":[85],"inactivating":[88],"mutation":[89],"in":[90,106,119,131,134,140,157,161,170,177,184,190,201,217,234,240,247,261,274,287,298],"IGFALS":[92],"gene":[93],"have":[94],"provided":[95],"opportunity":[97],"assess":[99],"physiological":[101,270],"role":[102,271],"this":[104],"protein":[105],"circulating":[108,241,279],"IGF":[109],"system.":[110],"has":[113],"no":[114],"effect":[115],"on":[116],"fetal":[117],"growth":[118,133,232,302],"both":[120,156],"mice":[123,138,159,173,202],"ALS-deficient":[126,142,163,179,186],"patients.":[127,164,180],"A":[128],"modest":[129],"reduction":[130,239,246],"post-natal":[132],"null":[136],"patients":[143,187],"was":[144,182,199],"observed.":[145],"The":[146],"plasma":[147,293],"concentrations":[148],"were":[153,258],"markedly":[154],"reduced":[155],"Basal":[165],"GH":[166],"levels":[167],"remained":[168],"normal":[169],"moderately":[175],"increased":[176],"Insulin-resistance":[181],"present":[183,200],"but":[188],"not":[189],"mice.":[193],"Reduced":[194],"bone":[195],"mineral":[196],"density":[197],"(BMD)":[198],"human":[204,262],"deficiency.":[206,264],"Phenotypic":[207],"features":[208],"complete":[210],"deficiency,":[212],"that":[213],"very":[215],"similar":[216],"mouse":[218],"human,":[220],"include:":[221],"a)":[222],"inability":[224],"complex,":[228],"b)":[229],"small":[231],"impairment":[233],"spite":[235],"marked":[238],"IGF-I,":[242],"c)":[244],"BMD.":[248],"On":[249],"other":[251],"hand,":[252],"insulin":[253],"resistance":[254],"pubertal":[256],"delay":[257],"observed":[259],"only":[260],"findings":[266],"underlie":[267],"important":[269],"maintenance":[276],"reservoir.":[281],"Both":[282],"models":[283],"will":[284],"be":[285],"useful":[286],"identifying":[288],"respective":[290],"roles":[291],"locally":[295],"derived":[296],"regulating":[299],"metabolism":[300],"tissues.":[305]},"counts_by_year":[{"year":2022,"cited_by_count":1},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":5},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":5},{"year":2012,"cited_by_count":4}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
