Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction

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

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Detalhes bibliográficos
Main Authors: Thiele, Susanne, de Sanctis, Luisa, Werner, Ralf, Grötzinger, Joachim, Aydin, Cumhur, Jüppner, Harald, Bastepe, Murat, Hiort, Olaf
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3103608/
https://ncbi.nlm.nih.gov/pubmed/21488135
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21489
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