{"id":"https://openalex.org/W1998726734","doi":"https://doi.org/10.1210/jcem.83.7.4968","title":"A Unique Constitutively Activating Mutation in Third Transmembrane Helix of Luteinizing Hormone Receptor Causes Sporadic Male Gonadotropin-Independent Precocious Puberty","display_name":"A Unique Constitutively Activating Mutation in Third Transmembrane Helix of Luteinizing Hormone Receptor Causes Sporadic Male Gonadotropin-Independent Precocious Puberty","publication_year":1998,"publication_date":"1998-07-01","ids":{"openalex":"https://openalex.org/W1998726734","doi":"https://doi.org/10.1210/jcem.83.7.4968","mag":"1998726734","pmid":"https://pubmed.ncbi.nlm.nih.gov/9661624"},"language":"en","primary_location":{"id":"doi:10.1210/jcem.83.7.4968","doi":"https://doi.org/10.1210/jcem.83.7.4968","is_oa":false,"landing_page_url":"https://doi.org/10.1210/jcem.83.7.4968","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"},"volume":null,"type":"article","is_traditional":true,"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/A5004035589","display_name":"Ana Cl\u00e1udia Latronico","orcid":"https://orcid.org/0000-0001-6782-693X","observed_orcids":["https://orcid.org/0000-0001-6782-693X"]},"institutions":[{"id":"https://openalex.org/I126307644","display_name":"University of Iowa","ror":"https://ror.org/036jqmy94","country_code":"US","type":"education","lineage":["https://openalex.org/I126307644"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"A. C. Latronico","raw_affiliation_strings":["Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City, USA. anacl@usp.br","Department of Physiology & Biophysics, University of Iowa College of Medicine, Iowa City, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City, USA. anacl@usp.br","institution_ids":["https://openalex.org/I126307644"]},{"raw_affiliation_string":"Department of Physiology & Biophysics, University of Iowa College of Medicine, Iowa City, USA","institution_ids":["https://openalex.org/I126307644"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049866957","display_name":"Amy N. Abell","orcid":"https://orcid.org/0000-0003-0604-7566","observed_orcids":["https://orcid.org/0000-0003-0604-7566"]},"institutions":[{"id":"https://openalex.org/I126307644","display_name":"University of Iowa","ror":"https://ror.org/036jqmy94","country_code":"US","type":"education","lineage":["https://openalex.org/I126307644"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"A. N. Abell","raw_affiliation_strings":["Department of Physiology and Biophysics, The University of Iowa College of Medicine (A.N.A., X.L., D.L.S.), Iowa City, Iowa;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Physiology and Biophysics, The University of Iowa College of Medicine (A.N.A., X.L., D.L.S.), Iowa City, Iowa;","institution_ids":["https://openalex.org/I126307644"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5097341449","display_name":"I. J. P. Arnhold","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I17974374","display_name":"Universidade de S\u00e3o Paulo","ror":"https://ror.org/036rp1748","country_code":"BR","type":"education","lineage":["https://openalex.org/I17974374"]},{"id":"https://openalex.org/I4210145268","display_name":"Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo","ror":"https://ror.org/03se9eg94","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I4210145268"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"I. J. P. Arnhold","raw_affiliation_strings":["Developmental Endocrinology Unit, Hospital das Cli\u0301nicas, Sa\u0303o Paulo University, Medical School (A.C.L., I.J.P.A., V.N.B. A.E.B., B.B.M), Sa\u0303o Paulo, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Developmental Endocrinology Unit, Hospital das Cli\u0301nicas, Sa\u0303o Paulo University, Medical School (A.C.L., I.J.P.A., V.N.B. A.E.B., B.B.M), Sa\u0303o Paulo, Brazil","institution_ids":["https://openalex.org/I17974374","https://openalex.org/I4210145268"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080347061","display_name":"Xiaoyang Liu","orcid":"https://orcid.org/0009-0007-4750-1987","observed_orcids":["https://orcid.org/0009-0007-4750-1987"]},"institutions":[{"id":"https://openalex.org/I126307644","display_name":"University of Iowa","ror":"https://ror.org/036jqmy94","country_code":"US","type":"education","lineage":["https://openalex.org/I126307644"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"X. Liu","raw_affiliation_strings":["Department of Physiology and Biophysics, The University of Iowa College of Medicine (A.N.A., X.L., D.L.S.), Iowa City, Iowa;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Physiology and Biophysics, The University of Iowa College of Medicine (A.N.A., X.L., D.L.S.), Iowa City, Iowa;","institution_ids":["https://openalex.org/I126307644"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006665953","display_name":"Teresa Lins","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"T. S. S. Lins","raw_affiliation_strings":["Instituto Materno Infantil de Pernambuco (T.S.S.L.), Recife, Brazil;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Instituto Materno Infantil de Pernambuco (T.S.S.L.), Recife, Brazil;","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042122104","display_name":"Vin\u00edcius Nahime Brito","orcid":"https://orcid.org/0000-0002-1052-2246","observed_orcids":["https://orcid.org/0000-0002-1052-2246"]},"institutions":[{"id":"https://openalex.org/I17974374","display_name":"Universidade de S\u00e3o Paulo","ror":"https://ror.org/036rp1748","country_code":"BR","type":"education","lineage":["https://openalex.org/I17974374"]},{"id":"https://openalex.org/I4210145268","display_name":"Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo","ror":"https://ror.org/03se9eg94","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I4210145268"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"V. N. Brito","raw_affiliation_strings":["Developmental Endocrinology Unit, Hospital das Cli\u0301nicas, Sa\u0303o Paulo University, Medical School (A.C.L., I.J.P.A., V.N.B. A.E.B., B.B.M), Sa\u0303o Paulo, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Developmental Endocrinology Unit, Hospital das Cli\u0301nicas, Sa\u0303o Paulo University, Medical School (A.C.L., I.J.P.A., V.N.B. A.E.B., B.B.M), Sa\u0303o Paulo, Brazil","institution_ids":["https://openalex.org/I17974374","https://openalex.org/I4210145268"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113544182","display_name":"Ana Elisa C. Billerbeck","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I17974374","display_name":"Universidade de S\u00e3o Paulo","ror":"https://ror.org/036rp1748","country_code":"BR","type":"education","lineage":["https://openalex.org/I17974374"]},{"id":"https://openalex.org/I4210145268","display_name":"Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo","ror":"https://ror.org/03se9eg94","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I4210145268"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"A. E. Billerbeck","raw_affiliation_strings":["Developmental Endocrinology Unit, Hospital das Cli\u0301nicas, Sa\u0303o Paulo University, Medical School (A.C.L., I.J.P.A., V.N.B. A.E.B., B.B.M), Sa\u0303o Paulo, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Developmental Endocrinology Unit, Hospital das Cli\u0301nicas, Sa\u0303o Paulo University, Medical School (A.C.L., I.J.P.A., V.N.B. A.E.B., B.B.M), Sa\u0303o Paulo, Brazil","institution_ids":["https://openalex.org/I17974374","https://openalex.org/I4210145268"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035015014","display_name":"Deborah L. Segaloff","orcid":"https://orcid.org/0000-0002-7577-0750","observed_orcids":["https://orcid.org/0000-0002-7577-0750"]},"institutions":[{"id":"https://openalex.org/I126307644","display_name":"University of Iowa","ror":"https://ror.org/036jqmy94","country_code":"US","type":"education","lineage":["https://openalex.org/I126307644"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"D. L. Segaloff","raw_affiliation_strings":["Department of Physiology and Biophysics, The University of Iowa College of Medicine (A.N.A., X.L., D.L.S.), Iowa City, Iowa;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Physiology and Biophysics, The University of Iowa College of Medicine (A.N.A., X.L., D.L.S.), Iowa City, Iowa;","institution_ids":["https://openalex.org/I126307644"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5008550885","display_name":"Berenice Bilharinho Mendonca","orcid":"https://orcid.org/0000-0003-1762-1084","observed_orcids":["https://orcid.org/0000-0003-1762-1084"]},"institutions":[{"id":"https://openalex.org/I17974374","display_name":"Universidade de S\u00e3o Paulo","ror":"https://ror.org/036rp1748","country_code":"BR","type":"education","lineage":["https://openalex.org/I17974374"]},{"id":"https://openalex.org/I4210145268","display_name":"Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo","ror":"https://ror.org/03se9eg94","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I4210145268"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"B. B. Mendonca","raw_affiliation_strings":["Developmental Endocrinology Unit, Hospital das Cli\u0301nicas, Sa\u0303o Paulo University, Medical School (A.C.L., I.J.P.A., V.N.B. A.E.B., B.B.M), Sa\u0303o Paulo, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Developmental Endocrinology Unit, Hospital das Cli\u0301nicas, Sa\u0303o Paulo University, Medical School (A.C.L., I.J.P.A., V.N.B. A.E.B., B.B.M), Sa\u0303o Paulo, Brazil","institution_ids":["https://openalex.org/I17974374","https://openalex.org/I4210145268"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3750,"currency":"USD","value_usd":3750},"apc_paid":null,"fwci":5.7555,"has_fulltext":false,"cited_by_count":100,"citation_normalized_percentile":{"value":0.97217806,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"83","issue":"7","first_page":"2435","last_page":"2440"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10960","display_name":"Hypothalamic control of reproductive hormones","score":0.9970999956130981,"subfield":{"id":"https://openalex.org/subfields/2743","display_name":"Reproductive Medicine"},"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/T10960","display_name":"Hypothalamic control of reproductive hormones","score":0.9970999956130981,"subfield":{"id":"https://openalex.org/subfields/2743","display_name":"Reproductive Medicine"},"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/T11956","display_name":"Sexual Differentiation and Disorders","score":0.0007999999797903001,"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/T11178","display_name":"Receptor Mechanisms and Signaling","score":0.0003000000142492354,"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/luteinizing-hormone-receptor","display_name":"luteinizing hormone receptor","score":0.9919999837875366},{"id":"https://openalex.org/keywords/gonadotropin-independent-precocious-puberty","display_name":"gonadotropin-independent precocious puberty","score":0.9679999947547913},{"id":"https://openalex.org/keywords/constitutive-receptor-activation","display_name":"constitutive receptor activation","score":0.8230000138282776},{"id":"https://openalex.org/keywords/camp-signaling","display_name":"cAMP signaling","score":0.6639999747276306},{"id":"https://openalex.org/keywords/gnrh-stimulation","display_name":"GnRH stimulation","score":0.5059999823570251},{"id":"https://openalex.org/keywords/exon-11","display_name":"exon 11","score":0.6140000224113464}],"concepts":[{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.6742042303085327},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5810437798500061},{"id":"https://openalex.org/C174510640","wikidata":"https://www.wikidata.org/wiki/Q489618","display_name":"HEK 293 cells","level":3,"score":0.5636835694313049},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5605888366699219},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.547114372253418},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.540664553642273},{"id":"https://openalex.org/C207583985","wikidata":"https://www.wikidata.org/wiki/Q128723","display_name":"Wild type","level":4,"score":0.520855724811554},{"id":"https://openalex.org/C29390026","wikidata":"https://www.wikidata.org/wiki/Q14904760","display_name":"Follicle-stimulating hormone receptor","level":5,"score":0.519961953163147},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.4735604524612427},{"id":"https://openalex.org/C118892022","wikidata":"https://www.wikidata.org/wiki/Q7834587","display_name":"Transmembrane domain","level":3,"score":0.4708920121192932},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.4616941213607788},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.32337281107902527},{"id":"https://openalex.org/C2778575703","wikidata":"https://www.wikidata.org/wiki/Q50265477","display_name":"Luteinizing hormone","level":3,"score":0.24945509433746338},{"id":"https://openalex.org/C71315377","wikidata":"https://www.wikidata.org/wiki/Q11364","display_name":"Hormone","level":2,"score":0.2270715832710266},{"id":"https://openalex.org/C2779279165","wikidata":"https://www.wikidata.org/wiki/Q200774","display_name":"Follicle-stimulating hormone","level":4,"score":0.1632014513015747},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.15872636437416077},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.1527506709098816}],"mesh":[{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001938","descriptor_name":"Brazil","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002462","descriptor_name":"Cell Membrane","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006065","descriptor_name":"Gonadotropins, Pituitary","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011629","descriptor_name":"Puberty, Precocious","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011974","descriptor_name":"Receptors, LH","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017433","descriptor_name":"Protein Structure, Secondary","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1210/jcem.83.7.4968","doi":"https://doi.org/10.1210/jcem.83.7.4968","is_oa":false,"landing_page_url":"https://doi.org/10.1210/jcem.83.7.4968","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":"doi:10.1210/jc.83.7.2435","doi":"https://doi.org/10.1210/jc.83.7.2435","is_oa":false,"landing_page_url":"https://doi.org/10.1210/jc.83.7.2435","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":"pmid:9661624","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9661624","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":0.8560000061988831,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G745556339","display_name":null,"funder_award_id":"HD-22196","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G7567427","display_name":"CORE CENTER--DIABETES AND ENDOCRINOLOGY","funder_award_id":"P30DK025295","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"}],"funders":[{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"},{"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":30,"referenced_works":["https://openalex.org/W1445935732","https://openalex.org/W1489775551","https://openalex.org/W1586324645","https://openalex.org/W1890185838","https://openalex.org/W1936333617","https://openalex.org/W1954929088","https://openalex.org/W1971217896","https://openalex.org/W1977158207","https://openalex.org/W1981047025","https://openalex.org/W1992826371","https://openalex.org/W1999997426","https://openalex.org/W2007311397","https://openalex.org/W2019742616","https://openalex.org/W2025818505","https://openalex.org/W2026005641","https://openalex.org/W2043813981","https://openalex.org/W2060913542","https://openalex.org/W2069239888","https://openalex.org/W2071587854","https://openalex.org/W2078122870","https://openalex.org/W2083637735","https://openalex.org/W2092755401","https://openalex.org/W2132784461","https://openalex.org/W2147966467","https://openalex.org/W2160329901","https://openalex.org/W2166316892","https://openalex.org/W2169289447","https://openalex.org/W2321550529","https://openalex.org/W2398609442","https://openalex.org/W2416132671"],"related_works":["https://openalex.org/W2094119263","https://openalex.org/W2035020454","https://openalex.org/W2041321407","https://openalex.org/W2108455057","https://openalex.org/W1992826371","https://openalex.org/W1971217896","https://openalex.org/W2031642555","https://openalex.org/W2160329901","https://openalex.org/W2071587854","https://openalex.org/W4239541262"],"abstract_inverted_index":{"Several":[0],"constitutively":[1],"activating":[2,43,274],"mutations":[3,44,275],"have":[4],"been":[5],"demonstrated":[6],"in":[7,18,75,83,150,190,198,233,241,259],"the":[8,13,25,46,51,56,76,81,97,138,159,191,208,221,228,234,239,242,253,265,277],"sixth":[9],"transmembrane":[10,78,267],"helix":[11,79,268],"of":[12,45,50,55,62,80,100,130,144,148,161,173,195,210,238,256,276],"human":[14],"LH":[15],"receptor":[16,217],"(hLHR)":[17],"boys":[19,33],"with":[20,34,118,169],"gonadotropin-independent":[21,35],"precocious":[22,36,257,282],"puberty.":[23,283],"In":[24],"current":[26],"study,":[27],"we":[28],"examined":[29],"two":[30,40],"unrelated":[31],"Brazilian":[32],"puberty":[37,258],"caused":[38],"by":[39,164,184,193],"different":[41,215],"heterozygous":[42,60],"hLHR.":[47],"Direct":[48],"sequencing":[49],"entire":[52],"exon":[53],"11":[54],"hLHR":[57,82,93,110,114,165,278],"revealed":[58],"a":[59,91,170,214,270],"substitution":[61],"T":[63],"for":[64,273],"G":[65],"at":[66],"nucleotide":[67],"1370,":[68],"that":[69,207,264,279],"converts":[70],"Leu":[71],"457":[72],"to":[73,133,181],"Arg":[74],"third":[77,235,266],"one":[84],"affected":[85,244],"boy.":[86,261],"His":[87],"biological":[88],"parents":[89],"had":[90],"normal":[92,249],"gene":[94],"sequence,":[95],"establishing":[96],"sporadic":[98],"nature":[99],"this":[101,260],"novel":[102],"Leu457Arg":[103],"mutation.":[104],"Human":[105],"embryonic":[106],"293":[107],"cells":[108,122,136,152,167,176],"expressing":[109,123,137,177],"mutant":[111,212],"(L457R)":[112],"or":[113],"wild-type":[115,139,223],"bound":[116],"CG":[117,202],"high":[119],"affinity.":[120],"However,":[121],"hLHR(L457R)":[124,178,211],"exhibited":[125],"significantly":[126],"higher":[127],"basal":[128],"levels":[129,147,160],"cAMP":[131,149,162],"(7-":[132],"14-fold)":[134],"than":[135,220],"receptor,":[140],"indicating":[141],"constitutive":[142],"activation":[143],"hLHR(L457R).":[145],"Basal":[146],"hLHR(L457R)-expressing":[151],"were,":[153],"nonetheless,":[154],"not":[155],"as":[156,158],"great":[157],"produced":[163],"wild-type-expressing":[166],"incubated":[168],"saturating":[171],"concentration":[172],"CG.":[174,185],"Furthermore,":[175],"were":[179],"unresponsive":[180],"further":[182],"stimulation":[183],"This":[186],"finding":[187],"was":[188],"confirmed":[189],"patient":[192],"lack":[194],"an":[196],"increase":[197],"serum":[199],"testosterone":[200],"after":[201],"stimulation.":[203],"These":[204],"results":[205],"suggest":[206],"conformation":[209],"represents":[213],"activated":[216],"state":[218],"(R*)":[219],"agonist-occupied":[222],"receptor.":[224],"We":[225,262],"also":[226],"identified":[227],"previously":[229],"described":[230],"Ala568Val":[231],"mutation":[232],"intracellular":[236],"loop":[237],"LHR":[240],"other":[243],"African-Brazilian":[245],"boy":[246],"and":[247],"his":[248],"prepubertal":[250],"sister,":[251],"suggesting":[252],"inherited":[254],"form":[255],"conclude":[263],"is":[269],"potential":[271],"area":[272],"cause":[280],"male":[281]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":1},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":3},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":5},{"year":2014,"cited_by_count":6},{"year":2013,"cited_by_count":4},{"year":2012,"cited_by_count":3}],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2016-06-24T00:00:00"}
