Matches in SemOpenAlex for { <https://semopenalex.org/work/W2008574562> ?p ?o ?g. }
Showing items 1 to 85 of
85
with 100 items per page.
- W2008574562 endingPage "284" @default.
- W2008574562 startingPage "273" @default.
- W2008574562 abstract "Pseudohypoparathyroidism (PHP) and Albright's hereditary osteodystrophy (AHO) are not interchangeable terms. AHO describes a constellation of physical features, including short adult stature, obesity, brachydactyly, and ectopic ossifications. PHP means end-organ resistance to PTH and is subclassified into types Ia, Ib, and Ic and type II. Pseudopseudohypoparathyroidism (PPHP) is a term used for individuals with AHO who have normal end-organ responses to PTH. Both the PHPIa and PPHP forms of AHO result from heterozygous deactivating mutations in the GNAS1 gene associated with a 50% reduction in bioactivity of the Gsalpha protein that it encodes. The GNAS1 gene is subject to tissue-specific genomic imprinting. Patients with mutations on their maternally derived allele are likely to have associated PHPIa, whereas mutations on the paternal allele usually cause PPHP. Isolated PTH resistance (PHPIb) can result from mutations within the GNAS1 gene but is more commonly caused by epigenetic imprinting abnormalities affecting the upstream exon 1A. The causes of PHP type Ic and PHP type II are not yet clear, and the latter is likely to be heterogeneous." @default.
- W2008574562 created "2016-06-24" @default.
- W2008574562 creator A5028713762 @default.
- W2008574562 creator A5085891634 @default.
- W2008574562 date "2002-01-01" @default.
- W2008574562 modified "2023-10-10" @default.
- W2008574562 title "Albright's Hereditary Osteodystrophy and Pseudohypoparathyroidism" @default.
- W2008574562 doi "https://doi.org/10.1055/s-2002-36726" @default.
- W2008574562 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12541184" @default.
- W2008574562 hasPublicationYear "2002" @default.
- W2008574562 type Work @default.
- W2008574562 sameAs 2008574562 @default.
- W2008574562 citedByCount "47" @default.
- W2008574562 countsByYear W20085745622012 @default.
- W2008574562 countsByYear W20085745622013 @default.
- W2008574562 countsByYear W20085745622015 @default.
- W2008574562 countsByYear W20085745622016 @default.
- W2008574562 countsByYear W20085745622017 @default.
- W2008574562 countsByYear W20085745622018 @default.
- W2008574562 countsByYear W20085745622019 @default.
- W2008574562 countsByYear W20085745622020 @default.
- W2008574562 countsByYear W20085745622021 @default.
- W2008574562 countsByYear W20085745622022 @default.
- W2008574562 countsByYear W20085745622023 @default.
- W2008574562 crossrefType "journal-article" @default.
- W2008574562 hasAuthorship W2008574562A5028713762 @default.
- W2008574562 hasAuthorship W2008574562A5085891634 @default.
- W2008574562 hasConcept C104317684 @default.
- W2008574562 hasConcept C126322002 @default.
- W2008574562 hasConcept C134018914 @default.
- W2008574562 hasConcept C150194340 @default.
- W2008574562 hasConcept C180754005 @default.
- W2008574562 hasConcept C190727270 @default.
- W2008574562 hasConcept C201492766 @default.
- W2008574562 hasConcept C2777871287 @default.
- W2008574562 hasConcept C2780356894 @default.
- W2008574562 hasConcept C2781000923 @default.
- W2008574562 hasConcept C2781133459 @default.
- W2008574562 hasConcept C2781208988 @default.
- W2008574562 hasConcept C519063684 @default.
- W2008574562 hasConcept C54355233 @default.
- W2008574562 hasConcept C71924100 @default.
- W2008574562 hasConcept C74231797 @default.
- W2008574562 hasConcept C86803240 @default.
- W2008574562 hasConcept C94715292 @default.
- W2008574562 hasConceptScore W2008574562C104317684 @default.
- W2008574562 hasConceptScore W2008574562C126322002 @default.
- W2008574562 hasConceptScore W2008574562C134018914 @default.
- W2008574562 hasConceptScore W2008574562C150194340 @default.
- W2008574562 hasConceptScore W2008574562C180754005 @default.
- W2008574562 hasConceptScore W2008574562C190727270 @default.
- W2008574562 hasConceptScore W2008574562C201492766 @default.
- W2008574562 hasConceptScore W2008574562C2777871287 @default.
- W2008574562 hasConceptScore W2008574562C2780356894 @default.
- W2008574562 hasConceptScore W2008574562C2781000923 @default.
- W2008574562 hasConceptScore W2008574562C2781133459 @default.
- W2008574562 hasConceptScore W2008574562C2781208988 @default.
- W2008574562 hasConceptScore W2008574562C519063684 @default.
- W2008574562 hasConceptScore W2008574562C54355233 @default.
- W2008574562 hasConceptScore W2008574562C71924100 @default.
- W2008574562 hasConceptScore W2008574562C74231797 @default.
- W2008574562 hasConceptScore W2008574562C86803240 @default.
- W2008574562 hasConceptScore W2008574562C94715292 @default.
- W2008574562 hasIssue "4" @default.
- W2008574562 hasLocation W20085745621 @default.
- W2008574562 hasLocation W20085745622 @default.
- W2008574562 hasOpenAccess W2008574562 @default.
- W2008574562 hasPrimaryLocation W20085745621 @default.
- W2008574562 hasRelatedWork W1969702194 @default.
- W2008574562 hasRelatedWork W2008574562 @default.
- W2008574562 hasRelatedWork W2059707979 @default.
- W2008574562 hasRelatedWork W2116610461 @default.
- W2008574562 hasRelatedWork W2477213359 @default.
- W2008574562 hasRelatedWork W2790241117 @default.
- W2008574562 hasRelatedWork W2915374540 @default.
- W2008574562 hasRelatedWork W2943482006 @default.
- W2008574562 hasRelatedWork W2986796064 @default.
- W2008574562 hasRelatedWork W580304057 @default.
- W2008574562 hasVolume "06" @default.
- W2008574562 isParatext "false" @default.
- W2008574562 isRetracted "false" @default.
- W2008574562 magId "2008574562" @default.
- W2008574562 workType "article" @default.