FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2156814975> ?p ?o ?g. }

• W2156814975 endingPage "4770" @default.
• W2156814975 startingPage "4762" @default.
• W2156814975 abstract "Context: Mutations within the gene encoding the pituitary-specific transcription factor POU1F1 are associated with combined pituitary hormone deficiency (CPHD). Most of the affected individuals manifest GH, prolactin, and TSH deficiency. Objective: We have now screened 129 individuals with CPHD and isolated GH deficiency for mutations within POU1F1. Results: Causative mutations were identified in 10 of 129 individuals (7.8%). Of these, five patients harbored the dominant negative R271W mutation, which is a well-recognized mutational hot spot. We have also identified a second frequently occurring mutation, E230K, which appears to be common in Maltese patients. Additionally, we describe two novel mutations within POU1F1, an insertion of a single base pair (ins778A) and a missense mutation (R172Q). Functional studies have revealed that POU1F1 (E230K) is associated with a reduction in transactivation, although DNA-binding affinity is similar to the wild-type protein. On the other hand, POU1F1 (R172Q) is associated with a reduction in DNA binding and transactivation, whereas POU1F1 (ins778A) is associated with loss of DNA binding and a reduction in transactivation. Conclusions: Our data suggest that the phenotype associated with POU1F1 mutations may be more variable, with the occasional preservation of TSH secretion. Additionally, our data revealed POU1F1 mutations in three patients who were diagnosed as having ACTH deficiency but who, on further evaluation, were found to have normal cortisol secretion. Hence, elucidation of the genotype led to further evaluation of the phenotype, with the cessation of cortisol replacement that had been commenced unnecessarily. These data reflect the importance of mutational analysis in patients with CPHD." @default.
• W2156814975 created "2016-06-24" @default.
• W2156814975 creator A5001715515 @default.
• W2156814975 creator A5008664017 @default.
• W2156814975 creator A5009497247 @default.
• W2156814975 creator A5009972979 @default.
• W2156814975 creator A5018679942 @default.
• W2156814975 creator A5024813019 @default.
• W2156814975 creator A5031452815 @default.
• W2156814975 creator A5033021931 @default.
• W2156814975 creator A5038139940 @default.
• W2156814975 creator A5041588792 @default.
• W2156814975 creator A5048632936 @default.
• W2156814975 creator A5059820675 @default.
• W2156814975 creator A5062608249 @default.
• W2156814975 creator A5064729919 @default.
• W2156814975 creator A5074308093 @default.
• W2156814975 creator A5076757250 @default.
• W2156814975 creator A5091849587 @default.
• W2156814975 date "2005-08-01" @default.
• W2156814975 modified "2023-10-13" @default.
• W2156814975 title "Novel Mutations within the POU1F1 Gene Associated with Variable Combined Pituitary Hormone Deficiency" @default.
• W2156814975 cites W1977652189 @default.
• W2156814975 cites W1979219368 @default.
• W2156814975 cites W1981864913 @default.
• W2156814975 cites W1982810916 @default.
• W2156814975 cites W1989727764 @default.
• W2156814975 cites W1989982146 @default.
• W2156814975 cites W2004863520 @default.
• W2156814975 cites W2009357627 @default.
• W2156814975 cites W2018150478 @default.
• W2156814975 cites W2021052287 @default.
• W2156814975 cites W2025698019 @default.
• W2156814975 cites W2034008265 @default.
• W2156814975 cites W2034454625 @default.
• W2156814975 cites W2050939645 @default.
• W2156814975 cites W2052366220 @default.
• W2156814975 cites W2062502773 @default.
• W2156814975 cites W2062617470 @default.
• W2156814975 cites W2064557280 @default.
• W2156814975 cites W2080167845 @default.
• W2156814975 cites W2081164457 @default.
• W2156814975 cites W2093990034 @default.
• W2156814975 cites W2095690101 @default.
• W2156814975 cites W2111261132 @default.
• W2156814975 cites W2138522611 @default.
• W2156814975 cites W2138641434 @default.
• W2156814975 cites W2141343816 @default.
• W2156814975 cites W2145698079 @default.
• W2156814975 cites W2148885938 @default.
• W2156814975 cites W2150105325 @default.
• W2156814975 cites W2333690626 @default.
• W2156814975 doi "https://doi.org/10.1210/jc.2005-0570" @default.
• W2156814975 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15928241" @default.
• W2156814975 hasPublicationYear "2005" @default.
• W2156814975 type Work @default.
• W2156814975 sameAs 2156814975 @default.
• W2156814975 citedByCount "116" @default.
• W2156814975 countsByYear W21568149752012 @default.
• W2156814975 countsByYear W21568149752013 @default.
• W2156814975 countsByYear W21568149752014 @default.
• W2156814975 countsByYear W21568149752015 @default.
• W2156814975 countsByYear W21568149752016 @default.
• W2156814975 countsByYear W21568149752017 @default.
• W2156814975 countsByYear W21568149752018 @default.
• W2156814975 countsByYear W21568149752019 @default.
• W2156814975 countsByYear W21568149752020 @default.
• W2156814975 countsByYear W21568149752021 @default.
• W2156814975 countsByYear W21568149752022 @default.
• W2156814975 countsByYear W21568149752023 @default.
• W2156814975 crossrefType "journal-article" @default.
• W2156814975 hasAuthorship W2156814975A5001715515 @default.
• W2156814975 hasAuthorship W2156814975A5008664017 @default.
• W2156814975 hasAuthorship W2156814975A5009497247 @default.
• W2156814975 hasAuthorship W2156814975A5009972979 @default.
• W2156814975 hasAuthorship W2156814975A5018679942 @default.
• W2156814975 hasAuthorship W2156814975A5024813019 @default.
• W2156814975 hasAuthorship W2156814975A5031452815 @default.
• W2156814975 hasAuthorship W2156814975A5033021931 @default.
• W2156814975 hasAuthorship W2156814975A5038139940 @default.
• W2156814975 hasAuthorship W2156814975A5041588792 @default.
• W2156814975 hasAuthorship W2156814975A5048632936 @default.
• W2156814975 hasAuthorship W2156814975A5059820675 @default.
• W2156814975 hasAuthorship W2156814975A5062608249 @default.
• W2156814975 hasAuthorship W2156814975A5064729919 @default.
• W2156814975 hasAuthorship W2156814975A5074308093 @default.
• W2156814975 hasAuthorship W2156814975A5076757250 @default.
• W2156814975 hasAuthorship W2156814975A5091849587 @default.
• W2156814975 hasBestOaLocation W21568149751 @default.
• W2156814975 hasConcept C104317684 @default.
• W2156814975 hasConcept C126322002 @default.
• W2156814975 hasConcept C1292079 @default.
• W2156814975 hasConcept C134018914 @default.
• W2156814975 hasConcept C151730666 @default.
• W2156814975 hasConcept C2779064019 @default.
• W2156814975 hasConcept C2779343474 @default.
• W2156814975 hasConcept C501734568 @default.
• W2156814975 hasConcept C54355233 @default.

• next