Matches in SemOpenAlex for { <https://semopenalex.org/work/W2320139711> ?p ?o ?g. }
Showing items 1 to 61 of
61
with 100 items per page.
- W2320139711 abstract "Acrodysostosis (OMIM no. 101800) is a rare form of skeletal dysplasia with severe brachydactyly, facial dysostosis, nasal hypoplasia, and short stature. Several features of acrodysostosis are also present in patients with Albright hereditary osteodystrophy that characterizes pseudohypoparathyroidism type Ia (PHP1a), caused by loss of function mutations in the gene encoding GNAS. As described for PHP1a, resistance to either parathyroid hormone or thyrotropin has been suspected in some patients with acrodysostosis. We identified a germline recurrent de novo heterozygous mutation in the PRKAR1A gene, coding for the major regulatory subunit of the cAMP-dependent protein kinase (PKA) in three patients who presented with acrodysostosis and multiple hormonal resistance. The mutation causes PRKAR1A gain-of-function, which therefore represses constitutively the catalytic subunit and results in PKA insensitivity to cAMP. These results explain the phenotype of the patients, and the similarities with PHP1a, and will be the subject of the presentation." @default.
- W2320139711 created "2016-06-24" @default.
- W2320139711 creator A5050518805 @default.
- W2320139711 date "2012-09-04" @default.
- W2320139711 modified "2023-10-18" @default.
- W2320139711 title "Identification of a Recurrent Mutation in the PRKAR1A Gene in Patients Affected with Chondrodysplasia and Hormone Resistance" @default.
- W2320139711 doi "https://doi.org/10.1055/s-0032-1304252" @default.
- W2320139711 hasPublicationYear "2012" @default.
- W2320139711 type Work @default.
- W2320139711 sameAs 2320139711 @default.
- W2320139711 citedByCount "3" @default.
- W2320139711 countsByYear W23201397112013 @default.
- W2320139711 countsByYear W23201397112016 @default.
- W2320139711 countsByYear W23201397112018 @default.
- W2320139711 crossrefType "journal-article" @default.
- W2320139711 hasAuthorship W2320139711A5050518805 @default.
- W2320139711 hasConcept C104317684 @default.
- W2320139711 hasConcept C126322002 @default.
- W2320139711 hasConcept C134018914 @default.
- W2320139711 hasConcept C2777871287 @default.
- W2320139711 hasConcept C2780356894 @default.
- W2320139711 hasConcept C2781133459 @default.
- W2320139711 hasConcept C2781208988 @default.
- W2320139711 hasConcept C501734568 @default.
- W2320139711 hasConcept C519063684 @default.
- W2320139711 hasConcept C54355233 @default.
- W2320139711 hasConcept C71924100 @default.
- W2320139711 hasConcept C74231797 @default.
- W2320139711 hasConcept C86803240 @default.
- W2320139711 hasConceptScore W2320139711C104317684 @default.
- W2320139711 hasConceptScore W2320139711C126322002 @default.
- W2320139711 hasConceptScore W2320139711C134018914 @default.
- W2320139711 hasConceptScore W2320139711C2777871287 @default.
- W2320139711 hasConceptScore W2320139711C2780356894 @default.
- W2320139711 hasConceptScore W2320139711C2781133459 @default.
- W2320139711 hasConceptScore W2320139711C2781208988 @default.
- W2320139711 hasConceptScore W2320139711C501734568 @default.
- W2320139711 hasConceptScore W2320139711C519063684 @default.
- W2320139711 hasConceptScore W2320139711C54355233 @default.
- W2320139711 hasConceptScore W2320139711C71924100 @default.
- W2320139711 hasConceptScore W2320139711C74231797 @default.
- W2320139711 hasConceptScore W2320139711C86803240 @default.
- W2320139711 hasIssue "10" @default.
- W2320139711 hasLocation W23201397111 @default.
- W2320139711 hasOpenAccess W2320139711 @default.
- W2320139711 hasPrimaryLocation W23201397111 @default.
- W2320139711 hasRelatedWork W2094289073 @default.
- W2320139711 hasRelatedWork W2272671669 @default.
- W2320139711 hasRelatedWork W2611507417 @default.
- W2320139711 hasRelatedWork W2768775870 @default.
- W2320139711 hasRelatedWork W2782963889 @default.
- W2320139711 hasRelatedWork W2790241117 @default.
- W2320139711 hasRelatedWork W2943482006 @default.
- W2320139711 hasRelatedWork W2986796064 @default.
- W2320139711 hasRelatedWork W4206217125 @default.
- W2320139711 hasRelatedWork W4211258008 @default.
- W2320139711 hasVolume "44" @default.
- W2320139711 isParatext "false" @default.
- W2320139711 isRetracted "false" @default.
- W2320139711 magId "2320139711" @default.
- W2320139711 workType "article" @default.