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 …

Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target‐organ involvement, treatment, and challenges for future research

JP Bilezikian, A Khan, JT Potts Jr… - Journal of Bone and …, 2011 - academic.oup.com
Recent advances in understanding the epidemiology, genetics, diagnosis, clinical
presentations, skeletal involvement, and therapeutic approaches to hypoparathyroidism led …

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 …

Pseudohypoparathyroidism

A Linglart, MA Levine, H Jüppner - … and Metabolism Clinics, 2018 - endo.theclinics.com
On binding of parathyroid hormone (PTH) to its receptor, the heptahelical PTH/PTHrP
receptor (PTH1R), leads to dissociation of Gsa (encoded by GNAS), the alphasubunit of the …

Signaling pathways in bone development and their related skeletal dysplasia

A Guasto, V Cormier-Daire - International journal of molecular sciences, 2021 - mdpi.com
Bone development is a tightly regulated process. Several integrated signaling pathways
including HH, PTHrP, WNT, NOTCH, TGF-β, BMP, FGF and the transcription factors SOX9 …

GNAS Mutations in Pseudohypoparathyroidism Type 1a and Related Disorders

MC Lemos, RV Thakker - Human mutation, 2015 - Wiley Online Library
Pseudohypoparathyroidism type 1a (PHP 1a) is characterized by hypocalcaemia and
hyperphosphatemia due to parathyroid hormone resistance, in association with the features …

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 …

An update on the clinical and molecular characteristics of pseudohypoparathyroidism

MA Levine - Current Opinion in Endocrinology, Diabetes and …, 2012 - journals.lww.com
An update on the clinical and molecular characteristics of p... : Current Opinion in
Endocrinology, Diabetes and Obesity An update on the clinical and molecular …