Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

G Mantovani, M Bastepe, D Monk… - Nature Reviews …, 2018 - nature.com
Abstract This Consensus Statement covers recommendations for the diagnosis and
management of patients with pseudohypoparathyroidism (PHP) and related disorders …

Pseudohypoparathyroidism: diagnosis and treatment

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 …

GNAS Spectrum of Disorders

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 …

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

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 …

Serum uric acid is associated with bone health in older men: a cross‐sectional population‐based study

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 …

Pseudohypoparathyroidism and Gsα–cAMP-linked disorders: current view and open issues

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 …

Pseudohypoparathyroidism and GNAS Epigenetic Defects: Clinical Evaluation of Albright Hereditary Osteodystrophy and Molecular Analysis in 40 Patients

G Mantovani, L de Sanctis, AM Barbieri… - The Journal of …, 2010 - academic.oup.com
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 …

Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes

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 …

Molecular definition of pseudohypoparathyroidism variants

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 …

Pseudohypoparathyroidism: one gene, several syndromes

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 …