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Human Mutation|April 14, 2011
Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interactionSusanne Thiele, Luisa de Sanctis, Ralf Werner, et al.
Bone|October 3, 2009
Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemiaSerap Turan, Cumhur Aydin, Abdullah Bereket, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 2, 2004
Stimulatory G protein directly regulates hypertrophic differentiation of growth plate cartilage in vivoMurat Bastepe, Lee S Weinstein, Naoshi Ogata, et al.
Molecular Endocrinology (Baltimore, Md.)|December 13, 2005
Mechanisms of ligand binding to the parathyroid hormone (PTH)/PTH-related protein receptor: selectivity of a modified PTH(1-15) radioligand for GalphaS-coupled receptor conformationsThomas Dean, Agnes Linglart, Matthew J Mahon, et al.
The Journal of Clinical Endocrinology and Metabolism|September 3, 2021
Progression of PTH Resistance in Autosomal Dominant Pseudohypoparathyroidism Type Ib Due to Maternal STX16 DeletionsZentaro Kiuchi, Monica Reyes, Patrick Hanna, et al.
American Journal of Medical Genetics. Part A|December 18, 2018
Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencingMatthias Rath, Stefanie Spiegler, Tim M Strom, et al.
Intractable & Rare Diseases Research|February 22, 2021
A novel homozygous variant in exon 10 of the GALNT3 gene causing hyperphosphatemic familial tumoral calcinosis in a family from North IndiaDevi Dayal, Shruti Gupta, Rakesh Kumar, et al.
Endocrinology|February 18, 2006
Coding GNAS mutations leading to hormone resistance impair in vitro agonist- and cholera toxin-induced adenosine cyclic 3',5'-monophosphate formation mediated by human XLalphasAgnès Linglart, Matthew J Mahon, Mohammad A Kerachian, et al.
The Journal of Clinical Investigation|August 28, 2020
Selective pharmacological inhibition of the sodium-dependent phosphate cotransporter NPT2a promotes phosphate excretionValerie Clerin, Hiroshi Saito, Kevin J Filipski, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|December 8, 2004
Homozygous ablation of fibroblast growth factor-23 results in hyperphosphatemia and impaired skeletogenesis, and reverses hypophosphatemia in Phex-deficient miceDespina Sitara, Mohammed S Razzaque, Martina Hesse, et al.
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