FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2102174888> ?p ?o ?g. }

• W2102174888 endingPage "611" @default.
• W2102174888 startingPage "605" @default.
• W2102174888 abstract "OBJECTIVE: Most mutations of the arginine vasopressin-neurophysin II (AVP-NPII) gene cause autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI). Such mutations are predicted to alter the three-dimensional structure of the prohormone, which accumulates in the cell body, ultimately leading to neuronal degeneration and hormonal deficit. In this study we describe the case of a 26-year-old female reporting a long-lasting history of polyuria/polydipsia. The father of the patient was affected by diabetes insipidus and was under desmopressin treatment until the time of his death. Nevertheless, the patient had never been subjected to endocrine evaluation. DESIGN AND METHODS: Clinical and genetic studies were performed. An 8-h fluid deprivation test plus desmopressin challenge and a 5% saline solution test were performed, in order to confirm the diagnosis. DNA was extracted from peripheral blood lymphocytes and subjected to direct sequencing of the entire coding region of the AVP-NPII gene. RESULTS AND CONCLUSIONS: Clinical assessment of the patient confirmed the diagnosis of neurohypophyseal diabetes insipidus. Desmopressin treatment was started, which effectively reversed the polyuria/ polydipsia syndrome. Genetic analysis revealed a novel mutation (1665T>A) in exon 2 of the AVP-NPII gene, disrupting one of the disulfide bonds present in the NPII moiety which play a fundamental role in determining the proper folding of the molecule. In summary, in the present study we have described a novel mutation of the AVP-NPII gene, which is consistent with the malfolding/toxicity hypothesis underlying the pathogenesis of adFNDI." @default.
• W2102174888 created "2016-06-24" @default.
• W2102174888 creator A5007458013 @default.
• W2102174888 creator A5012905728 @default.
• W2102174888 creator A5037045475 @default.
• W2102174888 creator A5049759930 @default.
• W2102174888 creator A5086743232 @default.
• W2102174888 date "2004-11-01" @default.
• W2102174888 modified "2023-09-28" @default.
• W2102174888 title "Identification of a novel mutation in the arginine vasopressin-neurophysin II gene affecting the sixth intrachain disulfide bridge of the neurophysin II moiety" @default.
• W2102174888 cites W1576525021 @default.
• W2102174888 cites W1881432776 @default.
• W2102174888 cites W1965949551 @default.
• W2102174888 cites W1979738337 @default.
• W2102174888 cites W1984717026 @default.
• W2102174888 cites W1984853469 @default.
• W2102174888 cites W1992189713 @default.
• W2102174888 cites W1997501747 @default.
• W2102174888 cites W1999347864 @default.
• W2102174888 cites W2005530363 @default.
• W2102174888 cites W2010011508 @default.
• W2102174888 cites W2010454897 @default.
• W2102174888 cites W2015642465 @default.
• W2102174888 cites W2017290645 @default.
• W2102174888 cites W2020815069 @default.
• W2102174888 cites W2033487261 @default.
• W2102174888 cites W2045463547 @default.
• W2102174888 cites W2045865115 @default.
• W2102174888 cites W2047000276 @default.
• W2102174888 cites W2047736053 @default.
• W2102174888 cites W2048592634 @default.
• W2102174888 cites W2070889253 @default.
• W2102174888 cites W2081685280 @default.
• W2102174888 cites W2087262323 @default.
• W2102174888 cites W2096042446 @default.
• W2102174888 cites W2106001283 @default.
• W2102174888 cites W2116759665 @default.
• W2102174888 cites W2118350579 @default.
• W2102174888 cites W2123361284 @default.
• W2102174888 cites W2128388629 @default.
• W2102174888 cites W2135926635 @default.
• W2102174888 cites W2142733627 @default.
• W2102174888 cites W2165136392 @default.
• W2102174888 cites W2313201523 @default.
• W2102174888 doi "https://doi.org/10.1530/eje.0.1510605" @default.
• W2102174888 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15538939" @default.
• W2102174888 hasPublicationYear "2004" @default.
• W2102174888 type Work @default.
• W2102174888 sameAs 2102174888 @default.
• W2102174888 citedByCount "20" @default.
• W2102174888 countsByYear W21021748882012 @default.
• W2102174888 countsByYear W21021748882015 @default.
• W2102174888 countsByYear W21021748882017 @default.
• W2102174888 countsByYear W21021748882019 @default.
• W2102174888 countsByYear W21021748882020 @default.
• W2102174888 countsByYear W21021748882021 @default.
• W2102174888 crossrefType "journal-article" @default.
• W2102174888 hasAuthorship W2102174888A5007458013 @default.
• W2102174888 hasAuthorship W2102174888A5012905728 @default.
• W2102174888 hasAuthorship W2102174888A5037045475 @default.
• W2102174888 hasAuthorship W2102174888A5049759930 @default.
• W2102174888 hasAuthorship W2102174888A5086743232 @default.
• W2102174888 hasBestOaLocation W21021748881 @default.
• W2102174888 hasConcept C126322002 @default.
• W2102174888 hasConcept C134018914 @default.
• W2102174888 hasConcept C2776370428 @default.
• W2102174888 hasConcept C2776958162 @default.
• W2102174888 hasConcept C2778702241 @default.
• W2102174888 hasConcept C2779624480 @default.
• W2102174888 hasConcept C2780180277 @default.
• W2102174888 hasConcept C54355233 @default.
• W2102174888 hasConcept C555293320 @default.
• W2102174888 hasConcept C6162580 @default.
• W2102174888 hasConcept C71924100 @default.
• W2102174888 hasConcept C86803240 @default.
• W2102174888 hasConceptScore W2102174888C126322002 @default.
• W2102174888 hasConceptScore W2102174888C134018914 @default.
• W2102174888 hasConceptScore W2102174888C2776370428 @default.
• W2102174888 hasConceptScore W2102174888C2776958162 @default.
• W2102174888 hasConceptScore W2102174888C2778702241 @default.
• W2102174888 hasConceptScore W2102174888C2779624480 @default.
• W2102174888 hasConceptScore W2102174888C2780180277 @default.
• W2102174888 hasConceptScore W2102174888C54355233 @default.
• W2102174888 hasConceptScore W2102174888C555293320 @default.
• W2102174888 hasConceptScore W2102174888C6162580 @default.
• W2102174888 hasConceptScore W2102174888C71924100 @default.
• W2102174888 hasConceptScore W2102174888C86803240 @default.
• W2102174888 hasLocation W21021748881 @default.
• W2102174888 hasLocation W21021748882 @default.
• W2102174888 hasOpenAccess W2102174888 @default.
• W2102174888 hasPrimaryLocation W21021748881 @default.
• W2102174888 hasRelatedWork W1979258691 @default.
• W2102174888 hasRelatedWork W2011789834 @default.
• W2102174888 hasRelatedWork W2033746374 @default.
• W2102174888 hasRelatedWork W2071155830 @default.
• W2102174888 hasRelatedWork W2074358091 @default.
• W2102174888 hasRelatedWork W2078735590 @default.
• W2102174888 hasRelatedWork W2079915471 @default.

• next