{"id":"https://openalex.org/W1972440263","doi":"https://doi.org/10.1074/jbc.274.26.18487","title":"Congenital Insulin Resistance Associated with a Conformational Alteration in a Conserved \u03b2-Sheet in the Insulin Receptor L1 Domain","display_name":"Congenital Insulin Resistance Associated with a Conformational Alteration in a Conserved \u03b2-Sheet in the Insulin Receptor L1 Domain","publication_year":1999,"publication_date":"1999-06-01","ids":{"openalex":"https://openalex.org/W1972440263","doi":"https://doi.org/10.1074/jbc.274.26.18487","mag":"1972440263","pmid":"https://pubmed.ncbi.nlm.nih.gov/10373457"},"language":"en","primary_location":{"id":"doi:10.1074/jbc.274.26.18487","doi":"https://doi.org/10.1074/jbc.274.26.18487","is_oa":true,"landing_page_url":"https://doi.org/10.1074/jbc.274.26.18487","pdf_url":"http://www.jbc.org/article/S0021925819871831/pdf","source":{"id":"https://openalex.org/S140251998","display_name":"Journal of Biological Chemistry","issn_l":"0021-9258","issn":["0021-9258","1067-8816","1083-351X"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-100","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Biological Chemistry","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"http://www.jbc.org/article/S0021925819871831/pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5103530965","display_name":"Mathias Rouard","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mathias Rouard","raw_affiliation_strings":["Laboratoire d'Endocrinologie Moleculaire, Institut Universitaire de Recherche, 34093 Montpellier, France","Howard Hughes Medical Institute"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire d'Endocrinologie Moleculaire, Institut Universitaire de Recherche, 34093 Montpellier, France","institution_ids":[]},{"raw_affiliation_string":"Howard Hughes Medical Institute","institution_ids":["https://openalex.org/I1344073410"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023940237","display_name":"Joseph T. Bass","orcid":"https://orcid.org/0000-0002-1602-8601","observed_orcids":["https://orcid.org/0000-0002-1602-8601"]},"institutions":[{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Joseph Bass","raw_affiliation_strings":["Departments of Medicine,","Howard Hughes Medical Institute"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Medicine,","institution_ids":[]},{"raw_affiliation_string":"Howard Hughes Medical Institute","institution_ids":["https://openalex.org/I1344073410"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088507066","display_name":"Florin Grigorescu","orcid":"https://orcid.org/0000-0002-3095-5639","observed_orcids":["https://orcid.org/0000-0002-3095-5639"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Florin Grigorescu","raw_affiliation_strings":["Laboratoire d'Endocrinologie Moleculaire, Institut Universitaire de Recherche, 34093 Montpellier, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire d'Endocrinologie Moleculaire, Institut Universitaire de Recherche, 34093 Montpellier, France","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109887676","display_name":"Thomas Garrett","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1292875679","display_name":"Commonwealth Scientific and Industrial Research Organisation","ror":"https://ror.org/03qn8fb07","country_code":"AU","type":"government","lineage":["https://openalex.org/I1292875679","https://openalex.org/I2801453606","https://openalex.org/I4387156119"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Thomas P.J. Garrett","raw_affiliation_strings":["Biomolecular Research Institute and The Commonwealth Scientific and Industrial Research Organization Division of Molecular Science, Victoria 3052, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biomolecular Research Institute and The Commonwealth Scientific and Industrial Research Organization Division of Molecular Science, Victoria 3052, Australia","institution_ids":["https://openalex.org/I1292875679"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103515859","display_name":"Colin W. Ward","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1292875679","display_name":"Commonwealth Scientific and Industrial Research Organisation","ror":"https://ror.org/03qn8fb07","country_code":"AU","type":"government","lineage":["https://openalex.org/I1292875679","https://openalex.org/I2801453606","https://openalex.org/I4387156119"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Colin W. Ward","raw_affiliation_strings":["Biomolecular Research Institute and The Commonwealth Scientific and Industrial Research Organization Division of Molecular Science, Victoria 3052, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biomolecular Research Institute and The Commonwealth Scientific and Industrial Research Organization Division of Molecular Science, Victoria 3052, Australia","institution_ids":["https://openalex.org/I1292875679"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029592041","display_name":"Gregory M. Lipkind","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I40347166","display_name":"University of Chicago","ror":"https://ror.org/024mw5h28","country_code":"US","type":"education","lineage":["https://openalex.org/I40347166"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Gregory Lipkind","raw_affiliation_strings":["Biochemistry and Molecular Biology, the University of Chicago, Chicago, Illinois 60637,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biochemistry and Molecular Biology, the University of Chicago, Chicago, Illinois 60637,","institution_ids":["https://openalex.org/I40347166"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085804149","display_name":"Claude Jaffiole","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Claude Jaffiole","raw_affiliation_strings":["Laboratoire d'Endocrinologie Moleculaire, Institut Universitaire de Recherche, 34093 Montpellier, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire d'Endocrinologie Moleculaire, Institut Universitaire de Recherche, 34093 Montpellier, France","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109965485","display_name":"Donald F. Steiner","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]},{"id":"https://openalex.org/I40347166","display_name":"University of Chicago","ror":"https://ror.org/024mw5h28","country_code":"US","type":"education","lineage":["https://openalex.org/I40347166"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Donald F. Steiner","raw_affiliation_strings":["Biochemistry and Molecular Biology, the University of Chicago, Chicago, Illinois 60637,","Howard Hughes Medical Institute"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biochemistry and Molecular Biology, the University of Chicago, Chicago, Illinois 60637,","institution_ids":["https://openalex.org/I40347166"]},{"raw_affiliation_string":"Howard Hughes Medical Institute","institution_ids":["https://openalex.org/I1344073410"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5103544018","display_name":"Graeme I. Bell","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]},{"id":"https://openalex.org/I40347166","display_name":"University of Chicago","ror":"https://ror.org/024mw5h28","country_code":"US","type":"education","lineage":["https://openalex.org/I40347166"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Graeme I. Bell","raw_affiliation_strings":["Biochemistry and Molecular Biology, the University of Chicago, Chicago, Illinois 60637,","Departments of Medicine,","Howard Hughes Medical Institute"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biochemistry and Molecular Biology, the University of Chicago, Chicago, Illinois 60637,","institution_ids":["https://openalex.org/I40347166"]},{"raw_affiliation_string":"Departments of Medicine,","institution_ids":[]},{"raw_affiliation_string":"Howard Hughes Medical Institute","institution_ids":["https://openalex.org/I1344073410"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5023940237"],"corresponding_institution_ids":["https://openalex.org/I1344073410"],"apc_list":{"value":3430,"currency":"USD","value_usd":3430},"apc_paid":{"value":3430,"currency":"USD","value_usd":3430},"fwci":1.4241,"has_fulltext":true,"cited_by_count":23,"citation_normalized_percentile":{"value":0.79299661,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":94},"biblio":{"volume":"274","issue":"26","first_page":"18487","last_page":"18491"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10839","display_name":"Pancreatic function and diabetes","score":0.2151000052690506,"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/T10839","display_name":"Pancreatic function and diabetes","score":0.2151000052690506,"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/T11339","display_name":"Metabolism, Diabetes, and Cancer","score":0.17090000212192535,"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/T10044","display_name":"Protein Structure and Dynamics","score":0.14219999313354492,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/insulin-receptor","display_name":"insulin receptor","score":0.7910000085830688},{"id":"https://openalex.org/keywords/beta-sheet","display_name":"beta-sheet","score":0.7329999804496765},{"id":"https://openalex.org/keywords/beta-helix","display_name":"beta-helix","score":0.6779999732971191},{"id":"https://openalex.org/keywords/hormone-binding-sites","display_name":"hormone binding sites","score":0.8840000033378601},{"id":"https://openalex.org/keywords/protein-folding","display_name":"protein folding","score":0.5879999995231628},{"id":"https://openalex.org/keywords/receptor-misfolding","display_name":"receptor misfolding","score":0.722000002861023},{"id":"https://openalex.org/keywords/receptor-trafficking","display_name":"receptor trafficking","score":0.6200000047683716},{"id":"https://openalex.org/keywords/proteolysis","display_name":"proteolysis","score":0.8320000171661377},{"id":"https://openalex.org/keywords/calnexin","display_name":"calnexin","score":0.9810000061988831},{"id":"https://openalex.org/keywords/endoplasmic-reticulum","display_name":"endoplasmic reticulum","score":0.7860000133514404},{"id":"https://openalex.org/keywords/receptor-oligomerization","display_name":"receptor oligomerization","score":0.7250000238418579},{"id":"https://openalex.org/keywords/extracellular-domain","display_name":"extracellular domain","score":0.6470000147819519}],"concepts":[{"id":"https://openalex.org/C2777391703","wikidata":"https://www.wikidata.org/wiki/Q1053470","display_name":"Insulin resistance","level":3,"score":0.7414407730102539},{"id":"https://openalex.org/C2779306644","wikidata":"https://www.wikidata.org/wiki/Q2002370","display_name":"Insulin","level":2,"score":0.6770391464233398},{"id":"https://openalex.org/C112446052","wikidata":"https://www.wikidata.org/wiki/Q422579","display_name":"Insulin receptor","level":4,"score":0.6658072471618652},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.5211582183837891},{"id":"https://openalex.org/C36503486","wikidata":"https://www.wikidata.org/wiki/Q11235244","display_name":"Domain (mathematical analysis)","level":2,"score":0.507939875125885},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5065668821334839},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.4926150441169739},{"id":"https://openalex.org/C185967709","wikidata":"https://www.wikidata.org/wiki/Q101433828","display_name":"Insulin receptor substrate","level":5,"score":0.4521142244338989},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.37516307830810547},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3338579535484314},{"id":"https://openalex.org/C12554922","wikidata":"https://www.wikidata.org/wiki/Q7100","display_name":"Biophysics","level":1,"score":0.32544687390327454},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.27035433053970337},{"id":"https://openalex.org/C134306372","wikidata":"https://www.wikidata.org/wiki/Q7754","display_name":"Mathematical analysis","level":1,"score":0.0},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D002460","descriptor_name":"Cell Line","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007150","descriptor_name":"Immunohistochemistry","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007333","descriptor_name":"Insulin Resistance","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008958","descriptor_name":"Models, Molecular","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011487","descriptor_name":"Protein Conformation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011972","descriptor_name":"Receptor, Insulin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011972","descriptor_name":"Receptor, Insulin","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D013329","descriptor_name":"Structure-Activity Relationship","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014162","descriptor_name":"Transfection","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017433","descriptor_name":"Protein Structure, Secondary","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017510","descriptor_name":"Protein Folding","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019921","descriptor_name":"Biotinylation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1074/jbc.274.26.18487","doi":"https://doi.org/10.1074/jbc.274.26.18487","is_oa":true,"landing_page_url":"https://doi.org/10.1074/jbc.274.26.18487","pdf_url":"http://www.jbc.org/article/S0021925819871831/pdf","source":{"id":"https://openalex.org/S140251998","display_name":"Journal of Biological Chemistry","issn_l":"0021-9258","issn":["0021-9258","1067-8816","1083-351X"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-100","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Biological Chemistry","raw_type":"journal-article"},{"id":"pmid:10373457","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10373457","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 biological chemistry","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1074/jbc.274.26.18487","doi":"https://doi.org/10.1074/jbc.274.26.18487","is_oa":true,"landing_page_url":"https://doi.org/10.1074/jbc.274.26.18487","pdf_url":"http://www.jbc.org/article/S0021925819871831/pdf","source":{"id":"https://openalex.org/S140251998","display_name":"Journal of Biological Chemistry","issn_l":"0021-9258","issn":["0021-9258","1067-8816","1083-351X"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-100","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Biological Chemistry","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.6240000128746033,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1972440263.pdf","grobid_xml":"https://content.openalex.org/works/W1972440263.grobid-xml"},"referenced_works_count":27,"referenced_works":["https://openalex.org/W1493960655","https://openalex.org/W1498072653","https://openalex.org/W1498129357","https://openalex.org/W1513217200","https://openalex.org/W1542086719","https://openalex.org/W1572009433","https://openalex.org/W1575376514","https://openalex.org/W1590353710","https://openalex.org/W1600454185","https://openalex.org/W1672544146","https://openalex.org/W1968168070","https://openalex.org/W1972103863","https://openalex.org/W2013083986","https://openalex.org/W2030178839","https://openalex.org/W2032359283","https://openalex.org/W2040621132","https://openalex.org/W2043517249","https://openalex.org/W2045994733","https://openalex.org/W2054414232","https://openalex.org/W2058276994","https://openalex.org/W2073444730","https://openalex.org/W2076104903","https://openalex.org/W2077630059","https://openalex.org/W2093995323","https://openalex.org/W2095238894","https://openalex.org/W2115871931","https://openalex.org/W2143291072"],"related_works":["https://openalex.org/W1542086719","https://openalex.org/W2080746623","https://openalex.org/W2975046285","https://openalex.org/W2072275291","https://openalex.org/W2230235947","https://openalex.org/W2079110072","https://openalex.org/W171237727","https://openalex.org/W2739674591","https://openalex.org/W2019689206","https://openalex.org/W7170963810"],"abstract_inverted_index":{"The":[0],"hormone":[1,93,126,203],"binding":[2,30,94,127],"site":[3,31,205],"of":[4,6,19,24,28,84,111,180,192,197],"members":[5],"the":[7,20,25,29,105,112,120,164,184,190,193,198,202],"insulin":[8,79],"receptor":[9,199],"family":[10],"is":[11,117,206],"contained":[12],"within":[13,63,119,183],"a":[14,41,47,60,73,86,125],"highly":[15],"conserved":[16],"extracellular":[17,195],"region":[18,27],"receptor.":[21],"Recent":[22],"crystallization":[23],"N-terminal":[26],"revealed":[32],"two":[33,54],"large":[34],"domains":[35],"(L1,":[36],"L2),":[37],"each":[38],"organized":[39],"as":[40],"single-stranded":[42],"right-handed":[43],"beta-helix,":[44],"connected":[45],"by":[46,210],"rod-shaped":[48],"cysteine-rich":[49],"domain.":[50,214],"Here,":[51],"we":[52,69],"analyze":[53],"new":[55],"naturally":[56],"occurring":[57],"mutations":[58],"in":[59,72,124,138,143,154,208,212],"single":[61],"beta-sheet":[62,87,181],"L1,":[64],"D59G":[65],"and":[66,122,134,136,159,200],"L62P,":[67,115],"that":[68,149,160,178,201],"previously":[70],"identified":[71],"young":[74],"woman":[75],"with":[76,145,163,173],"classic":[77],"congenital":[78],"resistance":[80],"(type":[81],"A).":[82],"Substitution":[83],"D59G,":[85],"connecting":[88],"loop":[89],"residue,":[90],"caused":[91],"decreased":[92],"but":[95],"did":[96],"not":[97],"disrupt":[98],"overall":[99],"folding,":[100,132],"assembly,":[101],"or":[102],"movement":[103],"to":[104],"cell":[106],"surface.":[107],"In":[108],"contrast,":[109],"replacement":[110],"adjacent":[113],"residue":[114],"which":[116],"located":[118],"beta-sheet,":[121],"positioned":[123],"surface,":[128],"completely":[129],"disrupted":[130],"intracellular":[131],"oligomerization,":[133],"trafficking":[135],"resulted":[137],"aberrant":[139],"proteolytic":[140],"degradation.":[141],"Immunohistochemistry":[142],"combination":[144],"biosynthetic":[146],"studies":[147],"showed":[148],"misfolded":[150],"receptors":[151],"were":[152],"retained":[153],"an":[155],"incorrect":[156],"cellular":[157],"location":[158],"they":[161],"colocalized":[162],"resident":[165],"endoplasmic":[166],"reticulum":[167],"chaperone":[168],"calnexin.":[169],"This":[170],"study,":[171],"together":[172],"other":[174],"mutagenesis":[175],"data,":[176],"shows":[177],"formation":[179],"elements":[182],"L1":[185],"beta-helix":[186],"are":[187],"critical":[188],"for":[189],"folding":[191],"entire":[194],"domain":[196],"contact":[204],"composed":[207],"part":[209],"residues":[211],"this":[213]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2013,"cited_by_count":1}],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2016-06-24T00:00:00"}
