FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1574004569> ?p ?o ?g. }

• W1574004569 endingPage "393" @default.
• W1574004569 startingPage "387" @default.
• W1574004569 abstract "Background Mutations in the POU1F1 gene severely affect the development and function of the anterior pituitary gland and lead to combined pituitary hormone deficiency (CPHD). Objective The clinical and genetic analysis of a patient presenting with CPHD and functional characterization of identified mutations. Patient We describe a male patient with extreme short stature, learning difficulties, anterior pituitary hypoplasia, secondary hypothyroidism and undetectable prolactin, growth hormone (GH) and insulin-like growth factor 1 (IGF1), with normal random cortisol. Design The POU1F1 coding region was amplified by PCR and sequenced; the functional consequence of the mutations was analysed by cell transfection and in vitro assays. Results Genetic analysis revealed compound heterozygosity for two novel putative loss of function mutations in POU1F1: a transition at position +3 of intron 1 [IVS1+3nt(A>G)] and a point mutation in exon 6 resulting in a substitution of arginine by tryptophan (R265W). Functional analysis revealed that IVS1+3nt(A>G) results in a reduction in the correctly spliced POU1F1 mRNA, which could be corrected by mutations of the +4, +5 and +6 nucleotides. Analysis of POU1F1R265W revealed complete loss of function resulting from severely reduced protein stability. Conclusions Combined pituitary hormone deficiency in this patient is caused by loss of POU1F1 function by two novel mechanisms, namely aberrant splicing (IVS1+3nt (A>G) and protein instability (R265W). Identification of the genetic basis of CPHD enabled the cessation of hydrocortisone therapy without the need for further assessment for evolving endocrinopathy." @default.
• W1574004569 created "2016-06-24" @default.
• W1574004569 creator A5031452815 @default.
• W1574004569 creator A5046038903 @default.
• W1574004569 creator A5064729919 @default.
• W1574004569 creator A5083414853 @default.
• W1574004569 creator A5084293412 @default.
• W1574004569 date "2012-02-07" @default.
• W1574004569 modified "2023-10-14" @default.
• W1574004569 title "Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency" @default.
• W1574004569 cites W1492099467 @default.
• W1574004569 cites W1812895422 @default.
• W1574004569 cites W1969776185 @default.
• W1574004569 cites W1975261346 @default.
• W1574004569 cites W1981864913 @default.
• W1574004569 cites W1982810916 @default.
• W1574004569 cites W1989982146 @default.
• W1574004569 cites W2009357627 @default.
• W1574004569 cites W2009757848 @default.
• W1574004569 cites W2019702993 @default.
• W1574004569 cites W2024596477 @default.
• W1574004569 cites W2055723883 @default.
• W1574004569 cites W2061015706 @default.
• W1574004569 cites W2068151389 @default.
• W1574004569 cites W2079718340 @default.
• W1574004569 cites W2086329042 @default.
• W1574004569 cites W2111626274 @default.
• W1574004569 cites W2115694090 @default.
• W1574004569 cites W2119001276 @default.
• W1574004569 cites W2128609169 @default.
• W1574004569 cites W2133199944 @default.
• W1574004569 cites W2138522611 @default.
• W1574004569 cites W2156814975 @default.
• W1574004569 cites W2333690626 @default.
• W1574004569 cites W4232656065 @default.
• W1574004569 cites W4235784192 @default.
• W1574004569 cites W4251206617 @default.
• W1574004569 doi "https://doi.org/10.1111/j.1365-2265.2011.04236.x" @default.
• W1574004569 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22010633" @default.
• W1574004569 hasPublicationYear "2012" @default.
• W1574004569 type Work @default.
• W1574004569 sameAs 1574004569 @default.
• W1574004569 citedByCount "16" @default.
• W1574004569 countsByYear W15740045692012 @default.
• W1574004569 countsByYear W15740045692014 @default.
• W1574004569 countsByYear W15740045692015 @default.
• W1574004569 countsByYear W15740045692016 @default.
• W1574004569 countsByYear W15740045692017 @default.
• W1574004569 countsByYear W15740045692018 @default.
• W1574004569 countsByYear W15740045692019 @default.
• W1574004569 countsByYear W15740045692021 @default.
• W1574004569 countsByYear W15740045692022 @default.
• W1574004569 countsByYear W15740045692023 @default.
• W1574004569 crossrefType "journal-article" @default.
• W1574004569 hasAuthorship W1574004569A5031452815 @default.
• W1574004569 hasAuthorship W1574004569A5046038903 @default.
• W1574004569 hasAuthorship W1574004569A5064729919 @default.
• W1574004569 hasAuthorship W1574004569A5083414853 @default.
• W1574004569 hasAuthorship W1574004569A5084293412 @default.
• W1574004569 hasConcept C104317684 @default.
• W1574004569 hasConcept C126322002 @default.
• W1574004569 hasConcept C134018914 @default.
• W1574004569 hasConcept C143589142 @default.
• W1574004569 hasConcept C176944494 @default.
• W1574004569 hasConcept C180754005 @default.
• W1574004569 hasConcept C2777433750 @default.
• W1574004569 hasConcept C2777658017 @default.
• W1574004569 hasConcept C2777871287 @default.
• W1574004569 hasConcept C2779029589 @default.
• W1574004569 hasConcept C2984496839 @default.
• W1574004569 hasConcept C36823959 @default.
• W1574004569 hasConcept C501734568 @default.
• W1574004569 hasConcept C54355233 @default.
• W1574004569 hasConcept C71315377 @default.
• W1574004569 hasConcept C71924100 @default.
• W1574004569 hasConcept C86803240 @default.
• W1574004569 hasConceptScore W1574004569C104317684 @default.
• W1574004569 hasConceptScore W1574004569C126322002 @default.
• W1574004569 hasConceptScore W1574004569C134018914 @default.
• W1574004569 hasConceptScore W1574004569C143589142 @default.
• W1574004569 hasConceptScore W1574004569C176944494 @default.
• W1574004569 hasConceptScore W1574004569C180754005 @default.
• W1574004569 hasConceptScore W1574004569C2777433750 @default.
• W1574004569 hasConceptScore W1574004569C2777658017 @default.
• W1574004569 hasConceptScore W1574004569C2777871287 @default.
• W1574004569 hasConceptScore W1574004569C2779029589 @default.
• W1574004569 hasConceptScore W1574004569C2984496839 @default.
• W1574004569 hasConceptScore W1574004569C36823959 @default.
• W1574004569 hasConceptScore W1574004569C501734568 @default.
• W1574004569 hasConceptScore W1574004569C54355233 @default.
• W1574004569 hasConceptScore W1574004569C71315377 @default.
• W1574004569 hasConceptScore W1574004569C71924100 @default.
• W1574004569 hasConceptScore W1574004569C86803240 @default.
• W1574004569 hasIssue "3" @default.
• W1574004569 hasLocation W15740045691 @default.
• W1574004569 hasLocation W15740045692 @default.
• W1574004569 hasOpenAccess W1574004569 @default.
• W1574004569 hasPrimaryLocation W15740045691 @default.

• next