Affiliation: Harvard University
Bastepe M, Juppner H. GNAS locus and pseudohypoparathyroidism. Horm Res. 2005;63:65-74 pubmed
Karaca A, Reyes M, Shumate L, Taskaldiran I, Omma T, Ersoz Gulcelik N, et al
. Severe brachydactyly and short stature resulting from a novel pathogenic TRPS1 variant within the GATA DNA-binding domain. Bone. 2019;123:153-158 pubmed publisher
Bastepe M. The GNAS locus and pseudohypoparathyroidism. Adv Exp Med Biol. 2008;626:27-40 pubmed
..Most sporadic PHP-Ib cases also have imprinting abnormalities of GNAS that involve multiple DMRs, but the genetic lesion(s) responsible for these imprinting abnormalities remain to be discovered. ..
Bastepe M. Relative functions of G?s and its extra-large variant XL?s in the endocrine system. Horm Metab Res. 2012;44:732-40 pubmed publisher
..This article reviews the cellular actions of G?s and XL?s, focusing on the significance of XL?s relative to G?s in mammalian physiology and human disease. ..
Bastepe M. Genetics and epigenetics of parathyroid hormone resistance. Endocr Dev. 2013;24:11-24 pubmed publisher
Karaca A, Malladi V, Zhu Y, Tafaj O, Paltrinieri E, WU J, et al
. Constitutive stimulatory G protein activity in limb mesenchyme impairs bone growth. Bone. 2018;110:230-237 pubmed publisher
..Given that Gsα haploinsufficiency also leads to short bones, as in patients with Albright's hereditary osteodystrophy, these results suggest that a tight control of Gsα activity is essential for normal growth plate physiology. ..
Turan S, Thiele S, Tafaj O, Brix B, Atay Z, Abali S, et al
. Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS. Bone. 2015;71:53-7 pubmed publisher
..These findings suggest that PTH and other hormone resistance may not be an exclusive feature of PHP-Ia and could also be observed in patients with PPHP. ..
Bastepe M, Turan S, He Q. Heterotrimeric G proteins in the control of parathyroid hormone actions. J Mol Endocrinol. 2017;58:R203-R224 pubmed publisher
..Here, we review the bone and renal actions of PTH with respect to the different signaling pathways downstream of these G proteins, as well as the disorders caused by GNAS mutations. ..
He Q, Zhu Y, Corbin B, Plagge A, Bastepe M. The G protein Î± subunit variant XLÎ±s promotes inositol 1,4,5-trisphosphate signaling and mediates the renal actions of parathyroid hormone in vivo. Sci Signal. 2015;8:ra84 pubmed publisher
..Together, our findings suggest that XLÎ±s enhances Gq/11 signaling to mediate the renal actions of PTH during early postnatal development. ..