G Mantovani - The Journal of Clinical Endocrinology & …, 2011 - academic.oup.com
Context: The term pseudohypoparathyroidism (PHP) indicates a group of heterogeneous disorders whose common feature is represented by impaired signaling of various hormones …
S Turan, M Bastepe - Current osteoporosis reports, 2015 - Springer
The GNAS complex locus encodes the alpha-subunit of the stimulatory G protein (Gsα), a ubiquitous signaling protein mediating the actions of many hormones, neurotransmitters …
S Thiele, G Mantovani, A Barlier… - European Journal of …, 2016 - academic.oup.com
Objective Disorders caused by impairments in the parathyroid hormone (PTH) signalling pathway are historically classified under the term pseudohypoparathyroidism (PHP), which …
I Nabipour, PN Sambrook, FM Blyth… - Journal of Bone and …, 2011 - academic.oup.com
Serum uric acid (UA) is a strong endogenous antioxidant. Since oxidative stress has been linked to osteoporosis, we examined the association between serum UA levels and bone …
G Mantovani, A Spada, FM Elli - Nature Reviews Endocrinology, 2016 - nature.com
Pseudohypoparathyroidism exemplifies an unusual form of hormone resistance as the underlying molecular defect is a partial deficiency of the α subunit of the stimulatory G …
Context: The two main subtypes of pseudohypoparathyroidism (PHP), PHP-Ia and-Ib, are caused by mutations in GNAS exons 1-13 and methylation defects in the imprinted GNAS …
A Batla, XY Tai, L Schottlaender, R Erro, B Balint… - Parkinsonism & related …, 2017 - Elsevier
Introduction There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called 'Fahr's' disease or syndrome. These are …
H Jüppner - The Journal of Clinical Endocrinology & …, 2021 - academic.oup.com
Pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are caused by mutations and/or epigenetic changes at the complex GNAS locus on …
O Tafaj, H Jüppner - Journal of Endocrinological Investigation, 2017 - Springer
Pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are caused by mutations and/or epigenetic changes at the complex GNAS locus on …