{"id":"https://openalex.org/W2192653901","doi":null,"title":"[Mutations in the arginine vasopressin neurophysin-II gene in familial neurohypophyseal diabetes insipidus patients].","display_name":"[Mutations in the arginine vasopressin neurophysin-II gene in familial neurohypophyseal diabetes insipidus patients].","publication_year":2008,"publication_date":"2008-05-01","ids":{"openalex":"https://openalex.org/W2192653901","mag":"2192653901","pmid":"https://pubmed.ncbi.nlm.nih.gov/18807739"},"language":"es","primary_location":{"id":"pmid:18807739","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18807739","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":"Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion","raw_type":"English Abstract"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5078597840","display_name":"Valeria Peralta-Leal","orcid":"https://orcid.org/0000-0001-7152-7297","observed_orcids":["https://orcid.org/0000-0001-7152-7297"]},"institutions":[{"id":"https://openalex.org/I193181351","display_name":"Universidad de Guadalajara","ror":"https://ror.org/043xj7k26","country_code":"MX","type":"education","lineage":["https://openalex.org/I193181351"]}],"countries":["MX"],"is_corresponding":false,"raw_author_name":"Valeria Peralta-Leal","raw_affiliation_strings":["Centre Universitario, Ciencias de la Salud, Universidad de Guadalajara"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre Universitario, Ciencias de la Salud, Universidad de Guadalajara","institution_ids":["https://openalex.org/I193181351"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049797536","display_name":"Jorge Dur\u00e1n-Gonz\u00e1lez","orcid":"https://orcid.org/0000-0002-6811-9900","observed_orcids":["https://orcid.org/0000-0002-6811-9900"]},"institutions":[{"id":"https://openalex.org/I164915025","display_name":"Mexican Social Security Institute","ror":"https://ror.org/03xddgg98","country_code":"MX","type":"government","lineage":["https://openalex.org/I164915025"]}],"countries":["MX"],"is_corresponding":false,"raw_author_name":"Jorge Dur\u00e1n-Gonz\u00e1lez","raw_affiliation_strings":["Instituto Mexicano del Seguro Social, Centro M\u00e9dico Nacional de Occidente, Guadalajara, Jalisco, M\u00e9xico"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Instituto Mexicano del Seguro Social, Centro M\u00e9dico Nacional de Occidente, Guadalajara, Jalisco, M\u00e9xico","institution_ids":["https://openalex.org/I164915025"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5072379619","display_name":"Evelia Leal\u2010Ugarte","orcid":"https://orcid.org/0000-0002-0527-0726","observed_orcids":["https://orcid.org/0000-0002-0527-0726"]},"institutions":[{"id":"https://openalex.org/I65481309","display_name":"Autonomous University of Tamaulipas","ror":"https://ror.org/04hhneb29","country_code":"MX","type":"education","lineage":["https://openalex.org/I65481309"]}],"countries":["MX"],"is_corresponding":false,"raw_author_name":"Evelia Leal-Ugarte","raw_affiliation_strings":["Universidad Aut\u00f3noma de Tamaulipas, Unidad Acad\u00e9mica de Ciencias de la Salud y Tecnolog\u00eda, Matamoros, Tamaulipas, M\u00e9xico"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidad Aut\u00f3noma de Tamaulipas, Unidad Acad\u00e9mica de Ciencias de la Salud y Tecnolog\u00eda, Matamoros, Tamaulipas, M\u00e9xico","institution_ids":["https://openalex.org/I65481309"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"60","issue":"3","first_page":"255","last_page":"62"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11967","display_name":"Electrolyte and hormonal disorders","score":0.7432000041007996,"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/T11967","display_name":"Electrolyte and hormonal disorders","score":0.7432000041007996,"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/T11541","display_name":"Neuroendocrine regulation and behavior","score":0.16220000386238098,"subfield":{"id":"https://openalex.org/subfields/2807","display_name":"Endocrine and Autonomic Systems"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10724","display_name":"Ion Transport and Channel Regulation","score":0.02969999983906746,"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/central-diabetes-insipidus","display_name":"central diabetes insipidus","score":0.9409999847412109},{"id":"https://openalex.org/keywords/vasopressin","display_name":"vasopressin","score":0.9860000014305115},{"id":"https://openalex.org/keywords/neurophysin-ii","display_name":"neurophysin II","score":0.9290000200271606},{"id":"https://openalex.org/keywords/mutation","display_name":"genetic mutations","score":0.6629999876022339},{"id":"https://openalex.org/keywords/cytotoxicity","display_name":"cytotoxicity","score":0.7279999852180481},{"id":"https://openalex.org/keywords/magnocellular-neurons","display_name":"magnocellular neurons","score":0.8059999942779541},{"id":"https://openalex.org/keywords/water-deprivation-test","display_name":"water deprivation test","score":0.9039999842643738},{"id":"https://openalex.org/keywords/desmopressin","display_name":"desmopressin","score":0.7570000290870667},{"id":"https://openalex.org/keywords/gene-therapy","display_name":"gene therapy","score":0.7799999713897705},{"id":"https://openalex.org/keywords/polyuria","display_name":"polyuria","score":0.5149999856948853},{"id":"https://openalex.org/keywords/polydipsia","display_name":"polydipsia","score":0.9670000076293945}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7475207448005676},{"id":"https://openalex.org/C15708023","wikidata":"https://www.wikidata.org/wiki/Q80083","display_name":"Humanities","level":1,"score":0.6833255887031555},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.2657355070114136}],"mesh":[{"descriptor_ui":"D006801","descriptor_name":"Humans","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":true},{"descriptor_ui":"D009481","descriptor_name":"Neurophysins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011498","descriptor_name":"Protein Precursors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014667","descriptor_name":"Vasopressins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020790","descriptor_name":"Diabetes Insipidus, Neurogenic","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D020790","descriptor_name":"Diabetes Insipidus, Neurogenic","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D020790","descriptor_name":"Diabetes Insipidus, Neurogenic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020790","descriptor_name":"Diabetes Insipidus, Neurogenic","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false}],"locations_count":1,"locations":[{"id":"pmid:18807739","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18807739","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":"Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion","raw_type":"English Abstract"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.98580002784729,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":60,"referenced_works":["https://openalex.org/W186630489","https://openalex.org/W1512978052","https://openalex.org/W1576525021","https://openalex.org/W1601531352","https://openalex.org/W1923196424","https://openalex.org/W1965949551","https://openalex.org/W1966095508","https://openalex.org/W1967508887","https://openalex.org/W1975764099","https://openalex.org/W1978442645","https://openalex.org/W1982527120","https://openalex.org/W1983997496","https://openalex.org/W1984853469","https://openalex.org/W1987643530","https://openalex.org/W1988033591","https://openalex.org/W1999347864","https://openalex.org/W2002332915","https://openalex.org/W2005530363","https://openalex.org/W2006649522","https://openalex.org/W2007911078","https://openalex.org/W2008563236","https://openalex.org/W2011477714","https://openalex.org/W2011625470","https://openalex.org/W2015176258","https://openalex.org/W2017290645","https://openalex.org/W2021913731","https://openalex.org/W2027339955","https://openalex.org/W2036695477","https://openalex.org/W2045400148","https://openalex.org/W2046853476","https://openalex.org/W2047000276","https://openalex.org/W2047736053","https://openalex.org/W2048592634","https://openalex.org/W2056038578","https://openalex.org/W2062140160","https://openalex.org/W2064599712","https://openalex.org/W2067133179","https://openalex.org/W2070889253","https://openalex.org/W2081357936","https://openalex.org/W2081685280","https://openalex.org/W2085144207","https://openalex.org/W2087262323","https://openalex.org/W2093265081","https://openalex.org/W2098360529","https://openalex.org/W2099171673","https://openalex.org/W2102174888","https://openalex.org/W2102290655","https://openalex.org/W2106001283","https://openalex.org/W2106630116","https://openalex.org/W2107604964","https://openalex.org/W2107814524","https://openalex.org/W2111250434","https://openalex.org/W2116759665","https://openalex.org/W2123361284","https://openalex.org/W2123558768","https://openalex.org/W2128388629","https://openalex.org/W2130041628","https://openalex.org/W2135926635","https://openalex.org/W2162273886","https://openalex.org/W2423808785"],"related_works":["https://openalex.org/W3120058422","https://openalex.org/W3038429389","https://openalex.org/W1984853469","https://openalex.org/W2515393537","https://openalex.org/W2146935081","https://openalex.org/W2015180555","https://openalex.org/W2977760407","https://openalex.org/W2161790394","https://openalex.org/W2102174888","https://openalex.org/W2033487261"],"abstract_inverted_index":{"Neurogenic":[0],"diabetes":[1,33],"insipidus":[2,34],"(NDI)":[3],"is":[4,59],"a":[5,22,108,119],"rare":[6],"condition":[7],"characterized":[8],"by":[9,14,52],"polyuria":[10],"and":[11,41,70,75,100,114,131,136],"polydipsia":[12],"caused":[13],"deficient":[15],"arginine":[16,92],"vasopressin":[17,93],"hormone":[18,69,124],"production.":[19],"More":[20],"than":[21],"50":[23],"mutations":[24,37],"have":[25],"been":[26,83,146,163],"identified":[27],"for":[28,150,153],"familial":[29],"autosomic":[30],"dominant":[31],"neurogenic":[32],"(FadNDI).":[35],"These":[36],"can":[38],"cause":[39],"citotoxicity":[40],"lead":[42],"to":[43],"the":[44,50,62,85,91,98,104,126,129,137,158],"degeneration":[45],"of":[46,49,67,80,88,106,122,128],"magnocellular":[47],"neurons":[48],"hipofisis":[51],"aberrant":[53],"protein":[54,160],"accumulation.":[55],"The":[56,116],"NDI":[57,134,151],"diagnosis":[58],"based":[60],"on":[61],"water":[63],"deprivation":[64],"test,":[65],"quantification":[66],"AVP":[68,123],"Magnetic":[71],"Resonance":[72],"Image":[73],"(MRI),":[74],"in":[76,90,133,139,142,156],"families":[77],"with":[78,103,118],"history":[79],"FadNDI":[81],"has":[82,145,162],"suggested":[84],"molecular":[86],"analysis":[87],"mutation":[89],"neurophisin":[94],"II":[95],"gene":[96,140],"before":[97],"signs":[99,130],"symptoms":[101,132],"development,":[102],"purpose":[105],"offering":[107],"suitable":[109],"diagnosis,":[110],"clinical":[111],"follow":[112],"up":[113],"treatment.":[115],"treatment":[117],"synthetic":[120],"analogue":[121],"allows":[125],"remission":[127],"patients":[135],"advances":[138],"therapy":[141],"animal":[143],"models":[144],"promising,":[147],"as":[148,152],"much":[149],"other":[154],"diseases":[155],"which":[157],"mutant":[159],"production":[161],"involved.":[164]},"counts_by_year":[{"year":2013,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
