From Pseudohypoparathyroidism to inactivating PTH/PTHrP Signalling Disorder (iPPSD), a novel classification proposed by the European EuroPHP network
Articolo
Data di Pubblicazione:
2016
Citazione:
From Pseudohypoparathyroidism to inactivating PTH/PTHrP Signalling Disorder (iPPSD), a novel classification proposed by the European EuroPHP network / S. Thiele, G. Mantovani, A. Barlier, V. Boldrin, P. Bordogna, L. de Sanctis, F. Elli, K. Freson, I. Garin, V. Grybek, P. Hanna, B. Izzi, O. Hiort, B. Lecumberri, A. Pereda, V. Saraff, C. Silve, S. Turan, A. Usardi, R. Werner, G. Perez de Nanclares, A. Linglart. - In: EUROPEAN JOURNAL OF ENDOCRINOLOGY. - ISSN 0804-4643. - 175:6(2016), pp. P1-P17.
Abstract:
Disorders caused by impairments in the parathyroid hormone (PTH) signalling pathway are historically classified under the term pseudohypoparathyroidism (PHP), that encompasses rare, related but highly heterogeneous diseases with demonstrated (epi)genetic causes. The actual classification is based on the presence or absence of specific clinical and biochemical signs together with an in vivo response to exogenous PTH and the results of an in vitro assay to measure Gsa protein activity. However, this classification disregards other related diseases like acrodysostosis (ACRDYS) or Progressive Osseous Heteroplasia (POH), as well as recent findings of clinical and genetic/epigenetic background of the different subtypes. Therefore, the EuroPHP network decided to develop a new classification that encompasses all disorders with impairments in PTH and/or PTHrP cAMP-mediated pathway.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
albrights hereditary osteodystophy; progressive osseous heteroplasia; stimulatory G-protein; GS-alpha gene; parathyroid-hormone resistance; nucleotide regulatory protein; paternal uniparental disomy; identifies PDE4D mutations; imprinting control element; gnas epigenetic defects
Elenco autori:
S. Thiele, G. Mantovani, A. Barlier, V. Boldrin, P. Bordogna, L. de Sanctis, F. Elli, K. Freson, I. Garin, V. Grybek, P. Hanna, B. Izzi, O. Hiort, B. Lecumberri, A. Pereda, V. Saraff, C. Silve, S. Turan, A. Usardi, R. Werner, G. Perez de Nanclares, A. Linglart
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