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- W2912198115 abstract "Gsα is a ubiquitously expressed heterotrimeric G protein α-subunit that couples numerous heptahelical receptors to stimulate cAMP formation. Heterozygous, germline inactivating Gsα mutations cause the congenital syndrome Albright hereditary osteodystrophy (AHO). Mutations on the maternal allele result in AHO plus multihormone resistance (pseudohypoparathyroidism type 1A, PHP1A); whereas those on the paternal allele result in the AHO phenotype alone (pseudoPHP). Imprinting defects in the Gsα gene GNAS lead to a more isolated form of renal PTH resistance (PHP1B). Somatic gain-of-function mutations in Gsα lead to constitutive cAMP formation. When such mutations occur in a highly localized manner, they can cause monostotic fibrous dysplasia or isolated endocrine tumors. Mutations occurring much earlier in development lead to a mosaic distribution of mutation-bearing cells, and phenotypic manifestations, including polyostotic fibrous dysplasia, hyperfunction of multiple endocrine organs, cafe-au-lait skin pigmentation (all three together in McCune–Albright syndrome), and dysfunction of other organs." @default.
- W2912198115 created "2019-02-21" @default.
- W2912198115 creator A5003919068 @default.
- W2912198115 creator A5084587886 @default.
- W2912198115 date "2018-01-01" @default.
- W2912198115 modified "2023-09-27" @default.
- W2912198115 title "Gsα, Pseudohypoparathyroidism, Fibrous Dysplasia, and McCune–Albright Syndrome" @default.
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