Matches in SemOpenAlex for { <https://semopenalex.org/work/W2102633546> ?p ?o ?g. }
- W2102633546 endingPage "72" @default.
- W2102633546 startingPage "67" @default.
- W2102633546 abstract "Albright hereditary osteodystrophy (AHO) is characterized by multiple somatic defects secondary to mutations in the GNAS1 gene. AHO patients with mutations on maternally inherited alleles are resistant to multiple hormones (e.g., PTH, TSH), a variant termed pseudohypoparathyroidism (PHP) type 1a, due to presumed tissue-specific paternal imprinting of the α chain of Gs as demonstrated in murine renal proximal tubule and fat cells. Studies in human tissues thus far revealed imprinting only in pituitary. Because mild hypothyroidism due to TSH resistance occurs in most PHP type 1a patients, we investigated whether Gαs is imprinted in thyroid. Examination of eight normal thyroids demonstrated significantly greater expression from the maternal GNAS1 allele, with paternal Gαs transcripts accounting for only 25.9–40.4%. Expression of NESP55, XLαs, and 1A was uniallelic. We conclude that Gαs is incompletely imprinted in the thyroid, which provides an explanation for mild TSH resistance in PHP type 1a." @default.
- W2102633546 created "2016-06-24" @default.
- W2102633546 creator A5014357890 @default.
- W2102633546 creator A5037862124 @default.
- W2102633546 creator A5044046286 @default.
- W2102633546 creator A5059498646 @default.
- W2102633546 creator A5070614030 @default.
- W2102633546 creator A5074454934 @default.
- W2102633546 creator A5080067188 @default.
- W2102633546 date "2002-08-01" @default.
- W2102633546 modified "2023-10-14" @default.
- W2102633546 title "Paternal imprinting of Gαs in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a" @default.
- W2102633546 cites W1501934404 @default.
- W2102633546 cites W1572003867 @default.
- W2102633546 cites W1947580298 @default.
- W2102633546 cites W1963598729 @default.
- W2102633546 cites W1965669105 @default.
- W2102633546 cites W1980130541 @default.
- W2102633546 cites W1996931195 @default.
- W2102633546 cites W2004515772 @default.
- W2102633546 cites W2009987216 @default.
- W2102633546 cites W2015600409 @default.
- W2102633546 cites W2026437164 @default.
- W2102633546 cites W2043643936 @default.
- W2102633546 cites W2064270647 @default.
- W2102633546 cites W2076315763 @default.
- W2102633546 cites W2081934037 @default.
- W2102633546 cites W2084283037 @default.
- W2102633546 cites W2088379199 @default.
- W2102633546 cites W2095470260 @default.
- W2102633546 cites W2120179521 @default.
- W2102633546 cites W2125826558 @default.
- W2102633546 cites W2130395300 @default.
- W2102633546 cites W2149830483 @default.
- W2102633546 cites W2151585204 @default.
- W2102633546 cites W2170546885 @default.
- W2102633546 cites W2222548602 @default.
- W2102633546 cites W2420927372 @default.
- W2102633546 doi "https://doi.org/10.1016/s0006-291x(02)00833-1" @default.
- W2102633546 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12147228" @default.
- W2102633546 hasPublicationYear "2002" @default.
- W2102633546 type Work @default.
- W2102633546 sameAs 2102633546 @default.
- W2102633546 citedByCount "137" @default.
- W2102633546 countsByYear W21026335462012 @default.
- W2102633546 countsByYear W21026335462013 @default.
- W2102633546 countsByYear W21026335462014 @default.
- W2102633546 countsByYear W21026335462015 @default.
- W2102633546 countsByYear W21026335462016 @default.
- W2102633546 countsByYear W21026335462017 @default.
- W2102633546 countsByYear W21026335462018 @default.
- W2102633546 countsByYear W21026335462019 @default.
- W2102633546 countsByYear W21026335462020 @default.
- W2102633546 countsByYear W21026335462021 @default.
- W2102633546 countsByYear W21026335462022 @default.
- W2102633546 countsByYear W21026335462023 @default.
- W2102633546 crossrefType "journal-article" @default.
- W2102633546 hasAuthorship W2102633546A5014357890 @default.
- W2102633546 hasAuthorship W2102633546A5037862124 @default.
- W2102633546 hasAuthorship W2102633546A5044046286 @default.
- W2102633546 hasAuthorship W2102633546A5059498646 @default.
- W2102633546 hasAuthorship W2102633546A5070614030 @default.
- W2102633546 hasAuthorship W2102633546A5074454934 @default.
- W2102633546 hasAuthorship W2102633546A5080067188 @default.
- W2102633546 hasConcept C104317684 @default.
- W2102633546 hasConcept C126322002 @default.
- W2102633546 hasConcept C134018914 @default.
- W2102633546 hasConcept C150194340 @default.
- W2102633546 hasConcept C180754005 @default.
- W2102633546 hasConcept C190727270 @default.
- W2102633546 hasConcept C201492766 @default.
- W2102633546 hasConcept C2779258352 @default.
- W2102633546 hasConcept C2780356894 @default.
- W2102633546 hasConcept C2781000923 @default.
- W2102633546 hasConcept C2781208988 @default.
- W2102633546 hasConcept C519063684 @default.
- W2102633546 hasConcept C526584372 @default.
- W2102633546 hasConcept C54355233 @default.
- W2102633546 hasConcept C71315377 @default.
- W2102633546 hasConcept C71924100 @default.
- W2102633546 hasConcept C74231797 @default.
- W2102633546 hasConcept C86803240 @default.
- W2102633546 hasConcept C94715292 @default.
- W2102633546 hasConceptScore W2102633546C104317684 @default.
- W2102633546 hasConceptScore W2102633546C126322002 @default.
- W2102633546 hasConceptScore W2102633546C134018914 @default.
- W2102633546 hasConceptScore W2102633546C150194340 @default.
- W2102633546 hasConceptScore W2102633546C180754005 @default.
- W2102633546 hasConceptScore W2102633546C190727270 @default.
- W2102633546 hasConceptScore W2102633546C201492766 @default.
- W2102633546 hasConceptScore W2102633546C2779258352 @default.
- W2102633546 hasConceptScore W2102633546C2780356894 @default.
- W2102633546 hasConceptScore W2102633546C2781000923 @default.
- W2102633546 hasConceptScore W2102633546C2781208988 @default.
- W2102633546 hasConceptScore W2102633546C519063684 @default.
- W2102633546 hasConceptScore W2102633546C526584372 @default.
- W2102633546 hasConceptScore W2102633546C54355233 @default.
- W2102633546 hasConceptScore W2102633546C71315377 @default.