Rieko Takatani Angelo Molinaro Giedre Grigelioniene Olta Tafaj Tomoyuki Watanabe Monica Reyes Amita Sharma Vibha Singhal F Lucy Raymond Agnès Linglart Harald Jüppner
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 31(4) 796-805 Apr 2016
Proximal tubular resistance to parathyroid hormone (PTH) resulting in hypocalcemia and hyperphosphatemia are preeminent abnormalities in pseudohypoparathyroidism type Ib (PHP1B), but resistance toward other hormones as well as variable features of...
Pseudohypoparathyroidism type Ib (PHP1B) is caused by proximal tubular resistance to parathyroid hormone that occurs in most cases in the absence of Albright's Hereditary Osteodystrophy (AHO). Familial forms of PHP1B are caused by maternally inher...
Angelo Molinaro Dov Tiosano Rieko Takatani Dionisios Chrysis William Russell Nikolas Koscielniak Marie-Laure Kottler Patrizia Agretti Giuseppina De Marco Petteri Ahtiainen Marta Christov Outi Mäkitie Massimo Tonacchera Harald Jüppner
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 30(5) 906-12 May 2015
Hypocalcemia and hyperphosphatemia because of resistance toward parathyroid hormone (PTH) in the proximal renal tubules are the most prominent abnormalities in patients affected by pseudohypoparathyroidism type Ib (PHP-Ib). In this rare disorder, ...
Molecular and cellular endocrinology 339(1-2) 114-9 Jun 2011
AMP-activated protein kinase (AMPK) is a key sensor of cellular energetic conditions. Recent studies suggest that AMPK affects osteoblast differentiation, although its role and mechanism are not fully understood. One of the most important signals ...
Pathogenesis of pseudohypoparathyroidism type 1b (PHP-1b) is related to the loss of methylation at the GNAS exon A/B region, which is combined with epigenetic defects at other differentially methylated GNAS regions in most sporadic cases. In this ...
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