Impaired iloprost-induced platelet inhibition and phosphoproteome changes in patients with confirmed pseudohypoparathyroidism type Ia, linked to genetic mutations in GNAS.

doi:10.1038/s41598-020-68379-3

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Article

Impaired iloprost-induced platelet inhibition and phosphoproteome changes in patients with confirmed pseudohypoparathyroidism type Ia, linked to genetic mutations in GNAS.

Scientific reports - 9 Jul 2020

Swieringa Frauke, Solari Fiorella A, Pagel Oliver, Beck Florian, Huang Jingnan, Feijge Marion A H, Jurk Kerstin, Körver-Keularts Irene M L W, Mattheij Nadine J A, Faber Jörg, Pohlenz Joachim, Russo Alexandra, Stumpel Connie T R M, Schrander Dirk E, Zieger Barbara, van der Meijden Paola E J, Zahedi René P, Sickmann Albert, Heemskerk Johan W M

Abstract excerpt

Patients diagnosed with pseudohypoparathyroidism type Ia (PHP Ia) suffer from hormonal resistance and abnormal postural features, in a condition classified as Albright hereditary osteodystrophy (AHO) syndrome. This syndrome is linked to a maternally inherited mutation in the GNAS complex locus, encoding for the GTPase subunit Gsα. Here, we investigated how platelet phenotype and omics analysis can assist in the...

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PMID: 32647264
DOI: 10.1038/s41598-020-68379-3
PMCID: PMC7347634

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