{"id":"https://openalex.org/W2395977656","doi":"https://doi.org/10.1152/ajpendo.1989.257.2.e277","title":"New form of pseudohypoparathyroidism with abnormal catalytic adenylate cyclase","display_name":"New form of pseudohypoparathyroidism with abnormal catalytic adenylate cyclase","publication_year":1989,"publication_date":"1989-08-01","ids":{"openalex":"https://openalex.org/W2395977656","doi":"https://doi.org/10.1152/ajpendo.1989.257.2.e277","mag":"2395977656","pmid":"https://pubmed.ncbi.nlm.nih.gov/2548394"},"language":"en","primary_location":{"id":"doi:10.1152/ajpendo.1989.257.2.e277","doi":"https://doi.org/10.1152/ajpendo.1989.257.2.e277","is_oa":false,"landing_page_url":"https://doi.org/10.1152/ajpendo.1989.257.2.e277","pdf_url":null,"source":{"id":"https://openalex.org/S196637695","display_name":"American Journal of Physiology-Endocrinology and Metabolism","issn_l":"0193-1849","issn":["0193-1849","1522-1555"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320155","host_organization_name":"American Physiological Society","host_organization_lineage":["https://openalex.org/P4310320155"],"host_organization_lineage_names":["American Physiological Society"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Physiology-Endocrinology and 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/A5071478084","display_name":"David C.A. Barrett","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I72019824","display_name":"Virginia Commonwealth University Medical Center","ror":"https://ror.org/057xmsr27","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I72019824"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"D. Barrett","raw_affiliation_strings":["Division of Endocrinology and Metabolism, Medical College of Virginia, Richmond 23298"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Endocrinology and Metabolism, Medical College of Virginia, Richmond 23298","institution_ids":["https://openalex.org/I72019824"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010020179","display_name":"Neil A. Breslau","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I72019824","display_name":"Virginia Commonwealth University Medical Center","ror":"https://ror.org/057xmsr27","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I72019824"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"N. A. Breslau","raw_affiliation_strings":["Division of Endocrinology and Metabolism, Medical College of Virginia, Richmond 23298"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Endocrinology and Metabolism, Medical College of Virginia, Richmond 23298","institution_ids":["https://openalex.org/I72019824"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033711503","display_name":"Martin B. Wax","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I72019824","display_name":"Virginia Commonwealth University Medical Center","ror":"https://ror.org/057xmsr27","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I72019824"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"M. B. Wax","raw_affiliation_strings":["Division of Endocrinology and Metabolism, Medical College of Virginia, Richmond 23298"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Endocrinology and Metabolism, Medical College of Virginia, Richmond 23298","institution_ids":["https://openalex.org/I72019824"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110320353","display_name":"Perry B. Molinoff","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I72019824","display_name":"Virginia Commonwealth University Medical Center","ror":"https://ror.org/057xmsr27","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I72019824"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"P. B. Molinoff","raw_affiliation_strings":["Division of Endocrinology and Metabolism, Medical College of Virginia, Richmond 23298"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Endocrinology and Metabolism, Medical College of Virginia, Richmond 23298","institution_ids":["https://openalex.org/I72019824"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5111569587","display_name":"Robert W. Downs","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I72019824","display_name":"Virginia Commonwealth University Medical Center","ror":"https://ror.org/057xmsr27","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I72019824"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"R. W. Downs","raw_affiliation_strings":["Division of Endocrinology and Metabolism, Medical College of Virginia, Richmond 23298"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Endocrinology and Metabolism, Medical College of Virginia, Richmond 23298","institution_ids":["https://openalex.org/I72019824"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I72019824"],"apc_list":null,"apc_paid":null,"fwci":1.1908,"has_fulltext":false,"cited_by_count":40,"citation_normalized_percentile":{"value":0.80341506,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"257","issue":"2","first_page":"E277","last_page":"E283"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10516","display_name":"Parathyroid Disorders and Treatments","score":0.7592999935150146,"subfield":{"id":"https://openalex.org/subfields/2727","display_name":"Nephrology"},"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/T10516","display_name":"Parathyroid Disorders and Treatments","score":0.7592999935150146,"subfield":{"id":"https://openalex.org/subfields/2727","display_name":"Nephrology"},"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":0.17219999432563782,"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/T10169","display_name":"Protein Kinase Regulation and GTPase Signaling","score":0.01119999960064888,"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/pseudohypoparathyroidism","display_name":"pseudohypoparathyroidism","score":0.921999990940094},{"id":"https://openalex.org/keywords/hormone-resistance","display_name":"hormone resistance","score":0.8289999961853027},{"id":"https://openalex.org/keywords/gs-protein","display_name":"Gs protein","score":0.7089999914169312},{"id":"https://openalex.org/keywords/g-proteins","display_name":"G proteins","score":0.7919999957084656},{"id":"https://openalex.org/keywords/manganese-activation","display_name":"manganese activation","score":0.6679999828338623},{"id":"https://openalex.org/keywords/forskolin","display_name":"forskolin","score":0.9160000085830688},{"id":"https://openalex.org/keywords/phosphodiesterase","display_name":"phosphodiesterase","score":0.8539999723434448}],"concepts":[{"id":"https://openalex.org/C180526460","wikidata":"https://www.wikidata.org/wiki/Q356240","display_name":"Adenylate kinase","level":3,"score":0.9082170724868774},{"id":"https://openalex.org/C2780069284","wikidata":"https://www.wikidata.org/wiki/Q5198121","display_name":"Cyclase","level":3,"score":0.9078375101089478},{"id":"https://openalex.org/C2780356894","wikidata":"https://www.wikidata.org/wiki/Q819207","display_name":"Pseudohypoparathyroidism","level":4,"score":0.8811647891998291},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.6814026236534119},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.6726346015930176},{"id":"https://openalex.org/C2779276759","wikidata":"https://www.wikidata.org/wiki/Q412747","display_name":"Forskolin","level":3,"score":0.5028061866760254},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.46104615926742554},{"id":"https://openalex.org/C62826618","wikidata":"https://www.wikidata.org/wiki/Q424304","display_name":"Phosphodiesterase","level":3,"score":0.45831531286239624},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.40886324644088745},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3721436858177185},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.29423022270202637},{"id":"https://openalex.org/C2781208988","wikidata":"https://www.wikidata.org/wiki/Q202476","display_name":"Parathyroid hormone","level":3,"score":0.24811390042304993},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.12370091676712036},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.12195494771003723},{"id":"https://openalex.org/C519063684","wikidata":"https://www.wikidata.org/wiki/Q706","display_name":"Calcium","level":2,"score":0.08723872900009155}],"mesh":[{"descriptor_ui":"D000242","descriptor_name":"Cyclic AMP","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D000262","descriptor_name":"Adenylyl Cyclases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002460","descriptor_name":"Cell Line","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002462","descriptor_name":"Cell Membrane","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000187","qualifier_name":"drug effects","is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D005973","descriptor_name":"Glutamine","qualifier_ui":"Q000031","qualifier_name":"analogs & derivatives","is_major_topic":false},{"descriptor_ui":"D005973","descriptor_name":"Glutamine","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006160","descriptor_name":"Guanosine Triphosphate","qualifier_ui":"Q000494","qualifier_name":"pharmacology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007545","descriptor_name":"Isoproterenol","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D007545","descriptor_name":"Isoproterenol","qualifier_ui":"Q000494","qualifier_name":"pharmacology","is_major_topic":false},{"descriptor_ui":"D011547","descriptor_name":"Pseudohypoparathyroidism","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":true},{"descriptor_ui":"D012016","descriptor_name":"Reference Values","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012867","descriptor_name":"Skin","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":true},{"descriptor_ui":"D015105","descriptor_name":"3',5'-Cyclic-AMP Phosphodiesterases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1152/ajpendo.1989.257.2.e277","doi":"https://doi.org/10.1152/ajpendo.1989.257.2.e277","is_oa":false,"landing_page_url":"https://doi.org/10.1152/ajpendo.1989.257.2.e277","pdf_url":null,"source":{"id":"https://openalex.org/S196637695","display_name":"American Journal of Physiology-Endocrinology and Metabolism","issn_l":"0193-1849","issn":["0193-1849","1522-1555"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320155","host_organization_name":"American Physiological Society","host_organization_lineage":["https://openalex.org/P4310320155"],"host_organization_lineage_names":["American Physiological Society"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Physiology-Endocrinology and Metabolism","raw_type":"journal-article"},{"id":"pmid:2548394","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/2548394","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 American journal of physiology","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.8560000061988831,"display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[],"study_designs":[],"awards":[{"id":"https://openalex.org/G1867400065","display_name":"GENERAL CLINICAL RESEARCH CENTER","funder_award_id":"M01RR000633","funder_id":"https://openalex.org/F4320337375","funder_display_name":"National Center for Research Resources"},{"id":"https://openalex.org/G26165529","display_name":null,"funder_award_id":"MO-1 RR-00633","funder_id":"https://openalex.org/F4320337375","funder_display_name":"National Center for Research Resources"},{"id":"https://openalex.org/G5966678231","display_name":"General Clinical Research Center","funder_award_id":"M01RR000065","funder_id":"https://openalex.org/F4320337375","funder_display_name":"National Center for Research Resources"},{"id":"https://openalex.org/G7198840314","display_name":"PARATHYROID PATHOPHYSIOLOGY:  ESTROGEN AND PREGNANCY","funder_award_id":"5r01am026253-05","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G917272939","display_name":null,"funder_award_id":"MO1-RR00065","funder_id":"https://openalex.org/F4320337375","funder_display_name":"National Center for Research Resources"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337375","display_name":"National Center for Research Resources","ror":"https://ror.org/04pw6fb54"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":21,"referenced_works":["https://openalex.org/W1501934404","https://openalex.org/W1530270875","https://openalex.org/W1530944849","https://openalex.org/W1547581311","https://openalex.org/W1775749144","https://openalex.org/W1972295492","https://openalex.org/W1985185693","https://openalex.org/W1985566703","https://openalex.org/W1989744185","https://openalex.org/W2007641172","https://openalex.org/W2029901427","https://openalex.org/W2055383210","https://openalex.org/W2067000996","https://openalex.org/W2085217067","https://openalex.org/W2088590824","https://openalex.org/W2090114948","https://openalex.org/W2101148377","https://openalex.org/W2169503005","https://openalex.org/W2249764954","https://openalex.org/W2341814959","https://openalex.org/W2397456260"],"related_works":["https://openalex.org/W2164155520","https://openalex.org/W1501934404","https://openalex.org/W2091437946","https://openalex.org/W2101148377","https://openalex.org/W2027554623","https://openalex.org/W2281292688","https://openalex.org/W1968834156","https://openalex.org/W1972295492","https://openalex.org/W2009987216","https://openalex.org/W2085217067"],"abstract_inverted_index":{"Patients":[0],"with":[1,36,69,115],"pseudohypoparathyroidism":[2,37],"type":[3],"Ia":[4],"have":[5,39],"resistance":[6,40,57,163],"to":[7,25,41,135,164],"multiple":[8,42,165],"hormones":[9,43,166],"because":[10],"of":[11,14,27,34,73,93,108,112,119,127,148],"deficient":[12],"activity":[13,100,139],"the":[15,51,76,109,145],"stimulatory":[16],"guanine":[17],"nucleotide-binding":[18],"protein":[19],"(Gs)":[20],"that":[21,167],"couples":[22],"membrane":[23,48,98],"receptors":[24],"activation":[26],"adenylate":[28,80,113,129,149,170],"cyclase.":[29,171],"However,":[30],"in":[31,144],"a":[32,67,159],"subset":[33],"patients":[35],"who":[38],"yet":[44,96],"possess":[45],"normal":[46,94,120,128],"erythrocyte":[47],"Gs":[49,85,99,136],"activity,":[50,95],"biochemical":[52],"abnormality":[53],"responsible":[54],"for":[55,153,161],"hormone":[56],"has":[58],"remained":[59],"undefined.":[60],"Cultured":[61],"skin":[62],"fibroblasts":[63],"were":[64,140],"derived":[65],"from":[66],"patient":[68],"this":[70],"atypical":[71],"form":[72],"pseudohypoparathyroidism.":[74],"In":[75],"patient's":[77],"fibroblast":[78,97],"membranes,":[79],"cyclase":[81,114,130,150],"stimulation":[82],"mediated":[83],"by":[84,102],"after":[86],"fluoride":[87],"ion":[88],"treatment":[89],"produced":[90,117,125],"only":[91],"52%":[92],"measured":[101],"cyc-":[103],"complementation":[104],"was":[105],"normal.":[106,141],"Activation":[107],"catalytic":[110,146],"unit":[111,147],"manganese":[116,122],"49%":[118],"activity;":[121],"plus":[123],"forskolin":[124],"54%":[126],"activity.":[131],"beta-Adrenergic":[132],"receptor":[133],"coupling":[134],"and":[137,156],"phosphodiesterase":[138],"A":[142],"defect":[143],"can":[151],"account":[152],"these":[154],"results":[155],"may":[157],"be":[158],"mechanism":[160],"clinical":[162],"act":[168],"through":[169]},"counts_by_year":[{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2018,"cited_by_count":3},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":1},{"year":2013,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
