{"id":"https://openalex.org/W2017934053","doi":"https://doi.org/10.1210/jc.80.12.3447","title":"Insulin-like growth factor I receptor expression and function in fibroblasts from two patients with deletion of the distal long arm of chromosome 15","display_name":"Insulin-like growth factor I receptor expression and function in fibroblasts from two patients with deletion of the distal long arm of chromosome 15","publication_year":1995,"publication_date":"1995-12-01","ids":{"openalex":"https://openalex.org/W2017934053","doi":"https://doi.org/10.1210/jc.80.12.3447","mag":"2017934053","pmid":"https://pubmed.ncbi.nlm.nih.gov/8530582"},"language":"en","primary_location":{"id":"doi:10.1210/jc.80.12.3447","doi":"https://doi.org/10.1210/jc.80.12.3447","is_oa":false,"landing_page_url":"https://doi.org/10.1210/jc.80.12.3447","pdf_url":null,"source":{"id":"https://openalex.org/S205775358","display_name":"The Journal of Clinical Endocrinology & Metabolism","issn_l":"0021-972X","issn":["0021-972X","1945-7197"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Endocrinology &amp; Metabolism","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","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/A5005366539","display_name":"Thomas Siebler","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/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"T Siebler","raw_affiliation_strings":["Metabolism Branch, National Cancer Institute, National Institutes of Health Bethesda, Maryland 20892, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Metabolism Branch, National Cancer Institute, National Institutes of Health Bethesda, Maryland 20892, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111424085","display_name":"W Lopaczy\u0144ski","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/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"W Lopaczynski","raw_affiliation_strings":["Metabolism Branch, National Cancer Institute, National Institutes of Health Bethesda, Maryland 20892, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Metabolism Branch, National Cancer Institute, National Institutes of Health Bethesda, Maryland 20892, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109983860","display_name":"Cheryl Terry","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/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"C L Terry","raw_affiliation_strings":["Metabolism Branch, National Cancer Institute, National Institutes of Health Bethesda, Maryland 20892, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Metabolism Branch, National Cancer Institute, National Institutes of Health Bethesda, Maryland 20892, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080922715","display_name":"Samuel J. Casella","orcid":"https://orcid.org/0000-0003-1981-2503","observed_orcids":["https://orcid.org/0000-0003-1981-2503"]},"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/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"S J Casella","raw_affiliation_strings":["Metabolism Branch, National Cancer Institute, National Institutes of Health Bethesda, Maryland 20892, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Metabolism Branch, National Cancer Institute, National Institutes of Health Bethesda, Maryland 20892, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023243366","display_name":"Peter J. Munson","orcid":"https://orcid.org/0000-0003-0824-7887","observed_orcids":["https://orcid.org/0000-0003-0824-7887"]},"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/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"P Munson","raw_affiliation_strings":["Metabolism Branch, National Cancer Institute, National Institutes of Health Bethesda, Maryland 20892, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Metabolism Branch, National Cancer Institute, National Institutes of Health Bethesda, Maryland 20892, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055248077","display_name":"Daisy De Le\u00f3n","orcid":"https://orcid.org/0000-0002-2693-0957","observed_orcids":["https://orcid.org/0000-0002-2693-0957"]},"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/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"D D De Leon","raw_affiliation_strings":["Metabolism Branch, National Cancer Institute, National Institutes of Health Bethesda, Maryland 20892, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Metabolism Branch, National Cancer Institute, National Institutes of Health Bethesda, Maryland 20892, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007030003","display_name":"L Phang","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/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"L Phang","raw_affiliation_strings":["Metabolism Branch, National Cancer Institute, National Institutes of Health Bethesda, Maryland 20892, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Metabolism Branch, National Cancer Institute, National Institutes of Health Bethesda, Maryland 20892, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069806729","display_name":"Karin J. Blakemore","orcid":"https://orcid.org/0000-0002-5419-4934","observed_orcids":["https://orcid.org/0000-0002-5419-4934"]},"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/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"K J Blakemore","raw_affiliation_strings":["Metabolism Branch, National Cancer Institute, National Institutes of Health Bethesda, Maryland 20892, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Metabolism Branch, National Cancer Institute, National Institutes of Health Bethesda, Maryland 20892, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079470731","display_name":"Robert C. McEvoy","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/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"R C McEvoy","raw_affiliation_strings":["Metabolism Branch, National Cancer Institute, National Institutes of Health Bethesda, Maryland 20892, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Metabolism Branch, National Cancer Institute, National Institutes of Health Bethesda, Maryland 20892, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5047295983","display_name":"Richard I. Kelley","orcid":"https://orcid.org/0000-0002-5508-7145","observed_orcids":["https://orcid.org/0000-0002-5508-7145"]},"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/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"R I Kelley","raw_affiliation_strings":["Metabolism Branch, National Cancer Institute, National Institutes of Health Bethesda, Maryland 20892, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Metabolism Branch, National Cancer Institute, National Institutes of Health Bethesda, Maryland 20892, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3750,"currency":"USD","value_usd":3750},"apc_paid":null,"fwci":1.8412,"has_fulltext":false,"cited_by_count":68,"citation_normalized_percentile":{"value":0.84204961,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"80","issue":"12","first_page":"3447","last_page":"3457"},"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":0.9897000193595886,"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":0.9897000193595886,"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":0.007899999618530273,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.0006000000284984708,"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/igf-1-receptor","display_name":"IGF-1 receptor","score":0.878000020980835},{"id":"https://openalex.org/keywords/igf-i-binding","display_name":"IGF-I binding","score":0.656000018119812},{"id":"https://openalex.org/keywords/growth-deficiency","display_name":"growth deficiency","score":0.593999981880188},{"id":"https://openalex.org/keywords/intrauterine-growth-restriction","display_name":"fetal growth restriction","score":0.8740000128746033},{"id":"https://openalex.org/keywords/fibroblasts","display_name":"fibroblasts","score":0.8840000033378601},{"id":"https://openalex.org/keywords/placental-membranes","display_name":"placental membranes","score":0.4869999885559082}],"concepts":[{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.6999795436859131},{"id":"https://openalex.org/C2779069268","wikidata":"https://www.wikidata.org/wiki/Q14874349","display_name":"Insulin-like growth factor 2","level":4,"score":0.6575944423675537},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6514906287193298},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.5604420304298401},{"id":"https://openalex.org/C2780689927","wikidata":"https://www.wikidata.org/wiki/Q24766801","display_name":"Insulin-like growth factor","level":4,"score":0.5540357828140259},{"id":"https://openalex.org/C133307689","wikidata":"https://www.wikidata.org/wiki/Q48749","display_name":"Southern blot","level":3,"score":0.48206740617752075},{"id":"https://openalex.org/C144174609","wikidata":"https://www.wikidata.org/wiki/Q14901457","display_name":"Insulin-like growth factor 1 receptor","level":4,"score":0.4620271325111389},{"id":"https://openalex.org/C2775960820","wikidata":"https://www.wikidata.org/wiki/Q408378","display_name":"Growth factor","level":3,"score":0.45807501673698425},{"id":"https://openalex.org/C2908605954","wikidata":"https://www.wikidata.org/wiki/Q25098752","display_name":"Insulin-Like Growth Factor Receptor","level":5,"score":0.45663928985595703},{"id":"https://openalex.org/C85265743","wikidata":"https://www.wikidata.org/wiki/Q885458","display_name":"Blot","level":3,"score":0.4556969702243805},{"id":"https://openalex.org/C177707886","wikidata":"https://www.wikidata.org/wiki/Q48520","display_name":"Northern blot","level":4,"score":0.4406794011592865},{"id":"https://openalex.org/C108190873","wikidata":"https://www.wikidata.org/wiki/Q6395811","display_name":"Nuclease protection assay","level":5,"score":0.42570361495018005},{"id":"https://openalex.org/C80862487","wikidata":"https://www.wikidata.org/wiki/Q415679","display_name":"Somatomedin","level":4,"score":0.42494791746139526},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.416331946849823},{"id":"https://openalex.org/C105580179","wikidata":"https://www.wikidata.org/wiki/Q188928","display_name":"Messenger RNA","level":3,"score":0.41215789318084717},{"id":"https://openalex.org/C2993002077","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Receptor expression","level":3,"score":0.41177091002464294},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.41137826442718506},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.40699824690818787},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3757031261920929},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.17176488041877747},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.09101295471191406},{"id":"https://openalex.org/C194993378","wikidata":"https://www.wikidata.org/wiki/Q427087","display_name":"Non-coding RNA","level":4,"score":0.0}],"mesh":[{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002884","descriptor_name":"Chromosomes, Human, Pair 15","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007334","descriptor_name":"Insulin-Like Growth Factor I","qualifier_ui":"Q000494","qualifier_name":"pharmacology","is_major_topic":false},{"descriptor_ui":"D010920","descriptor_name":"Placenta","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D012016","descriptor_name":"Reference Values","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012333","descriptor_name":"RNA, Messenger","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D012867","descriptor_name":"Skin","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D012867","descriptor_name":"Skin","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D015091","descriptor_name":"beta-Alanine","qualifier_ui":"Q000031","qualifier_name":"analogs & derivatives","is_major_topic":false},{"descriptor_ui":"D015091","descriptor_name":"beta-Alanine","qualifier_ui":"Q000493","qualifier_name":"pharmacokinetics","is_major_topic":false},{"descriptor_ui":"D017353","descriptor_name":"Gene Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017526","descriptor_name":"Receptor, IGF Type 1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017526","descriptor_name":"Receptor, IGF Type 1","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1210/jc.80.12.3447","doi":"https://doi.org/10.1210/jc.80.12.3447","is_oa":false,"landing_page_url":"https://doi.org/10.1210/jc.80.12.3447","pdf_url":null,"source":{"id":"https://openalex.org/S205775358","display_name":"The Journal of Clinical Endocrinology & Metabolism","issn_l":"0021-972X","issn":["0021-972X","1945-7197"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Endocrinology &amp; Metabolism","raw_type":"journal-article"},{"id":"doi:10.1210/jcem.80.12.8530582","doi":"https://doi.org/10.1210/jcem.80.12.8530582","is_oa":false,"landing_page_url":"https://doi.org/10.1210/jcem.80.12.8530582","pdf_url":null,"source":{"id":"https://openalex.org/S205775358","display_name":"The Journal of Clinical Endocrinology & Metabolism","issn_l":"0021-972X","issn":["0021-972X","1945-7197"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Journal of Clinical Endocrinology &amp; Metabolism","raw_type":"journal-article"},{"id":"pmid:8530582","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8530582","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":"The Journal of clinical endocrinology and metabolism","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9476000070571899,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G2752626688","display_name":null,"funder_award_id":"HD24061","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G5779482540","display_name":"Mental Retardation and Developmental Disabilities Research Centers 2008","funder_award_id":"P30HD024061","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"}],"funders":[{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":39,"referenced_works":["https://openalex.org/W71017637","https://openalex.org/W94506405","https://openalex.org/W278566508","https://openalex.org/W344384229","https://openalex.org/W1536119619","https://openalex.org/W1572920176","https://openalex.org/W1982810916","https://openalex.org/W1983909595","https://openalex.org/W1985220842","https://openalex.org/W1985985302","https://openalex.org/W1986191099","https://openalex.org/W1986861679","https://openalex.org/W1993672117","https://openalex.org/W1997536319","https://openalex.org/W1998837025","https://openalex.org/W2005391360","https://openalex.org/W2007573212","https://openalex.org/W2008403511","https://openalex.org/W2022867908","https://openalex.org/W2032409176","https://openalex.org/W2039244588","https://openalex.org/W2039770812","https://openalex.org/W2043813981","https://openalex.org/W2049682941","https://openalex.org/W2054006234","https://openalex.org/W2056440800","https://openalex.org/W2060444534","https://openalex.org/W2062956770","https://openalex.org/W2072361733","https://openalex.org/W2076545865","https://openalex.org/W2079965063","https://openalex.org/W2083515932","https://openalex.org/W2099817971","https://openalex.org/W2123510998","https://openalex.org/W2144549895","https://openalex.org/W2147218892","https://openalex.org/W2148662388","https://openalex.org/W2216245782","https://openalex.org/W2299485510"],"related_works":["https://openalex.org/W7047054833","https://openalex.org/W2008403511","https://openalex.org/W1998837025","https://openalex.org/W7098519475","https://openalex.org/W2125965465","https://openalex.org/W7140247776","https://openalex.org/W2145548376","https://openalex.org/W2186436838","https://openalex.org/W2756212195","https://openalex.org/W2102271265"],"abstract_inverted_index":{"Most":[0],"patients":[1,71,109,153,290,340],"with":[2,72,120,341],"deletion":[3,73,342],"of":[4,9,32,35,74,79,87,97,114,123,126,158,174,189,208,223,237,246,252,261,287,309,343,348,360],"the":[5,30,36,49,75,88,102,107,115,121,127,151,159,186,203,212,221,227,277,288,299,344,361],"distal":[6,76,345],"long":[7,77,346],"arm":[8,78,347],"chromosome":[10,80,349],"15":[11,81],"have":[12],"intrauterine":[13],"growth":[14,18,38,50],"retardation":[15],"and":[16,65,112,156,171,234,250,268],"postnatal":[17],"deficiency":[19,51],"in":[20,48,53,67,101,106,117,150,161,185,199,266,276,282,313,336],"addition":[21],"to":[22,176,211,280,311,354,364],"developmental":[23],"abnormalities.":[24],"It":[25],"has":[26],"been":[27],"proposed":[28],"that":[29],"absence":[31,122],"one":[33,124,194,286],"copy":[34,125],"insulin-like":[37],"factor":[39],"I":[40],"(IGF-I)":[41],"receptor":[42,63,90,104,129,132,169,184,214,243,332],"gene":[43,91],"may":[44],"play":[45],"a":[46,140,181,258,273],"role":[47],"seen":[52],"this":[54,58],"syndrome.":[55],"To":[56,240],"address":[57],"question":[59],"we":[60,351],"examined":[61,265],"IGF-I":[62,89,128,131,168,213,242,262,281,312,331],"expression":[64,333],"function":[66],"fibroblasts":[68,179,316,337],"from":[69,193,338],"two":[70,108,152,289,339],"(15q26.1-->qter).":[82],"Quantitative":[83],"Southern":[84],"blot":[85],"analysis":[86,236],"was":[92,110,215,264,272,304,334],"performed":[93],"on":[94],"HindIII":[95],"digests":[96],"fibroblast":[98],"DNA.":[99],"Radioactivity":[100],"1.7-kilobase":[103],"fragment":[105],"55%":[111],"51%":[113],"values":[116,160],"controls,":[118],"consistent":[119],"gene.":[130],"messenger":[133,146],"ribonucleic":[134,147],"acid":[135,148,248],"levels":[136,149],"were":[137,154,293,319,352],"quantitated":[138],"by":[139,220,226,257],"solution":[141],"hybridization/nuclease":[142],"protection":[143],"assay.":[144],"Receptor":[145],"45%":[155],"52%":[157],"controls.":[162],"Northern":[163],"blotting":[164],"demonstrated":[165,180],"normal":[166,182],"size":[167,183],"transcripts":[170],"affinity":[172],"crosslinking":[173],"[125I]IGF-I":[175,200],"Triton":[177],"X-100-solubilized":[178],"patients.":[187],"Analysis":[188],"placental":[190],"membranes":[191],"prepared":[192],"patient":[195,267],"revealed":[196],"no":[197,305],"difference":[198],"binding.":[201],"In":[202,328],"patients'":[204],"fibroblasts,":[205],"however,":[206],"binding":[207,238],"[125I]long":[209],"[R3]-IGF-I":[210],"significantly":[216],"reduced,":[217],"as":[218,295,321],"assessed":[219],"amount":[222],"radioactivity":[224],"competed":[225],"monoclonal":[228],"antibody":[229],"alpha":[230],"IR-3":[231],"or":[232],"insulin":[233],"Scatchard":[235],"data.":[239],"assess":[241],"function,":[244],"stimulation":[245,251,323],"[alpha-1-14C]-methylaminoisobutyric":[247],"transport":[249],"[methyl-3H]thymidine":[253],"incorporation":[254],"into":[255],"DNA":[256],"full":[259],"range":[260],"concentrations":[263],"control":[269],"fibroblasts.":[270],"There":[271],"significant":[274],"decrease":[275],"maximal":[278],"response":[279,297,310,325,363],"both":[283],"assays":[284],"for":[285,307,358],"when":[291,317],"data":[292,318],"expressed":[294,320],"fold":[296],"over":[298],"basal":[300],"value.":[301],"However,":[302],"there":[303],"evidence":[306,357],"impairment":[308,359],"either":[314],"patient's":[315],"net":[322],"(maximal":[324],"minus":[326],"basal).":[327],"conclusion,":[329],"although":[330],"decreased":[335],"15,":[350],"unable":[353],"provide":[355],"conclusive":[356],"biological":[362],"IGF-I.":[365]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":2},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
