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Studies in pseudohypoparathyroidism: Two new cases with a probable selective deficiency of thyrotropin

✍ Scribed by Elias Zisman; Myron Lotz; Melvin E. Jenkins; Frederic G. Bartter

Book ID
115675716
Publisher
Elsevier Science
Year
1969
Tongue
English
Weight
580 KB
Volume
46
Category
Article
ISSN
1555-7162

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πŸ“œ SIMILAR VOLUMES

Functional characterization of GNAS muta
Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively GsΞ±-receptor interaction
✍ Susanne Thiele; Luisa de Sanctis; Ralf Werner; Joachim GrΓΆtzinger; Cumhur Aydin; πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 260 KB

Pseudohypoparathyroidism type Ia (PHPIa) is caused by GNAS mutations leading to deficiency of the a-subunit of stimulatory G proteins (Gsa) that mediate signal transduction of G protein-coupled receptors via cAMP. PHP type Ic (PHPIc) and PHPIa share clinical features of Albright hereditary osteodyst