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Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction.
Thiele S, de Sanctis L, Werner R, Grötzinger J, Aydin C, Jüppner H, Bastepe M, Hiort O. Thiele S, et al. Among authors: aydin c. Hum Mutat. 2011 Jun;32(6):653-60. doi: 10.1002/humu.21489. Epub 2011 Apr 12. Hum Mutat. 2011. PMID: 21488135 Free PMC article.
Ablation of the Stimulatory G Protein α-Subunit in Renal Proximal Tubules Leads to Parathyroid Hormone-Resistance With Increased Renal Cyp24a1 mRNA Abundance and Reduced Serum 1,25-Dihydroxyvitamin D.
Zhu Y, He Q, Aydin C, Rubera I, Tauc M, Chen M, Weinstein LS, Marshansky V, Jüppner H, Bastepe M. Zhu Y, et al. Among authors: aydin c. Endocrinology. 2016 Feb;157(2):497-507. doi: 10.1210/en.2015-1639. Epub 2015 Dec 15. Endocrinology. 2016. PMID: 26671181 Free PMC article.
682 results