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Citations to this article

Deficient guanine nucleotide regulatory unit activity in cultured fibroblast membranes from patients with pseudohypoparathyroidism type I. A cause of impaired synthesis of 3',5'-cyclic AMP by intact and broken cells
Michael A. Levine, … , Robert W. Downs Jr., Allen M. Spiegel
Michael A. Levine, … , Robert W. Downs Jr., Allen M. Spiegel
Published July 1, 1983
Citation Information: J Clin Invest. 1983;72(1):316-324. https://doi.org/10.1172/JCI110971.
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Research Article

Deficient guanine nucleotide regulatory unit activity in cultured fibroblast membranes from patients with pseudohypoparathyroidism type I. A cause of impaired synthesis of 3',5'-cyclic AMP by intact and broken cells

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Abstract

Deficient activity of the guanine nucleotide regulatory protein (G unit), an integral component of the membrane-bound adenylate cyclase complex, has been implicated as the biochemical lesion in many patients with pseudohypoparathyroidism (PHP) type I. In addition to renal resistance to parathyroid hormone in this disorder, there is decreased responsiveness of diverse tissues to hormones that act via 3',5'-cyclic AMP (cAMP). To assess whether a deficiency of G units could account for impaired adenylate cyclase activity, we studied cAMP production in intact cultured fibroblasts and fibroblast plasma membranes from five patients with PHP in response to several activators of adenylate cyclase.

Authors

Michael A. Levine, Charles Eil, Robert W. Downs Jr., Allen M. Spiegel

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Citations to this article (64)

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P McMullan, E Germain-Lee
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Parental Origin of Gsα Inactivation Differentially Affects Bone Remodeling in a Mouse Model of Albright Hereditary Osteodystrophy
P McMullan, P Maye, Q Yang, D Rowe, E GermainLee
JBMR Plus 2021
Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations
PC Hanley, HS Kanwar, C Martineau, MA Levine
The Journal of clinical endocrinology and metabolism 2020
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The Journal of clinical endocrinology and metabolism 2017
Progressive Development of PTH Resistance in Patients With Inactivating Mutations on the Maternal Allele of GNAS
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The Journal of clinical endocrinology and metabolism 2017
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Endocrinology: Adult and Pediatric 2016
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Endocrinology 2016
GNAS Spectrum of Disorders
S Turan, M Bastepe
Current Osteoporosis Reports 2015
Genetic and epigenetic defects at the GNAS locus cause different forms of pseudohypoparathyroidism
H Jüppner
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Reference Module in Biomedical Sciences
DL Sackett, RB Haynes
2014
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Advances in Enzymology - and Related Areas of Molecular Biology
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O Haskin, L Lazar, L Jaber, R Salvatori, M Alba, L Kornreich, M Phillip, G Gat-Yablonski
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The Pseudohypoparathyroidism Type 1b Locus Is Linked to a Region Including GNAS1 at 20q13.3
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R Salvatori, X Fan, PE Mullis, A Haile, MA Levine
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Isolated growth hormone (GH) deficiency due to compound heterozygosity for two new mutations in the GH-releasing hormone receptor gene
R Salvatori, X Fan, JA Phillips, M Prince, MA Levine
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Absence of mutations in the growth hormone (GH)-releasing hormone receptor gene in GH-secreting pituitary adenomas
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The Parathyroids
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The Parathyroids 2001
Endocrine Manifestations of Stimulatory G Protein α-Subunit Mutations and the Role of Genomic Imprinting
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Deficiency of the α-Subunit of the Stimulatory G Protein and Severe Extraskeletal Ossification
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Selective Resistance to Parathyroid Hormone Caused by a Novel Uncoupling Mutation in the Carboxyl Terminus of Gα s: A CAUSE OF PSEUDOHYPOPARATHYROIDISM TYPE Ib
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The Journal of biological chemistry 2000
Variable imprinting of the heterotrimeric G protein G s α-subunit within different segments of the nephron
LS Weinstein, S Yu, CA Ecelbarger
American journal of physiology. Renal physiology 2000
Pseudohypoparathyroidism 1b: Exclusion of Parathyroid Hormone and Its Receptors as Candidate Disease Genes1
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The Role of Genomic Imprinting of Gsα in the Pathogenesis of Albright Hereditary Osteodystrophy
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Trends in Endocrinology & Metabolism 1999
Hormone Resistance Syndromes
JL Jameson
1999
Identification of Two Novel Deletion Mutations within the Gsα Gene (GNAS1) in Albright Hereditary Osteodystrophy1
D Yu, S Yu, V Schuster, K Kruse, CL Clericuzio, LS Weinstein
The Journal of clinical endocrinology and metabolism 1999
G Proteins, Receptors, and Disease
AM Spiegel
1998
Reproductive Dysfunction in Women with Albright’s Hereditary Osteodystrophy1
AB Namnoum, GR Merriam, AM Moses, MA Levine
The Journal of clinical endocrinology and metabolism 1998
Targeted Disruption of Gnas in Embryonic Stem Cells*
WF Schwindinger, KJ Reese, AM Lawler, JD Gearhart, MA Levine
Endocrinology 1997
Normal parathyroid hormone responsiveness of bone-derived cells from a patient with pseudohypoparathyroidism
S Ish-Shalom, LG Rao, MA Levine, D Fraser, SW Kooh, RG Josse, R Mcbroom, MM Wong, TM Murray
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Mutations of signal-transducing G proteins in human disease
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Journal of Clinical Investigation 1994
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A novel Gs alpha mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase
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Pseudohypoparathyroidism with osteitis fibrosa cystica: Direct demonstration of skeletal responsiveness to parathyroid hormone in cells cultured from bone
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Chronic ethanol treatment increases expression of inhibitory G-proteins and reduces adenylylcyclase activity in the central nervous system of two lines of ethanol-sensitive mice
GS Wand, AM Diehl, MA Levine, D Wolfgang, S Samy
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Abnormal response to a human B cell growth factor in patients with common variable immunodeficiency (CVI)
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Mutation in the Gene Encoding the Stimulatory G Protein of Adenylate Cyclase in Albright's Hereditary Osteodystrophy
JL Patten, DR Johns, D Valle, C Eil, PA Gruppuso, G Steele, PM Smallwood, MA Levine
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Endocrine Function and Aging
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1990
Increase of the 40,000-mol wt pertussis toxin substrate (G protein) in the failing human heart
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Journal of Clinical Investigation 1988
Genetic deficiency of the alpha subunit of the guanine nucleotide-binding protein Gs as the molecular basis for Albright hereditary osteodystrophy
MA Levine, TG Ahn, SF Klupt, KD Kaufman, PM Smallwood, HR Bourne, KA Sullivan, CV Dop
Proceedings of the National Academy of Sciences 1988
Inhibition of the proliferation of Nb2 cells by femtomolar concentrations of cholera toxin and partial reversal of the effect by 12-O-tetradecanoyl-phorbol-13-acetate
M Pines, A Ashkenazi, N Cohen-Chapnik, L Binder, A Gertler
Journal of Cellular Biochemistry 1988
Reduced expression of multiple forms of the alpha subunit of the stimulatory GTP-binding protein in pseudohypoparathyroidism type Ia
A Carter, C Bardin, R Collins, C Simons, P Bray, A Spiegel
Proceedings of the National Academy of Sciences 1987
Characterization of soluble and particulate parathyroid hormone receptors using a biotinylated bioactive hormone analog
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Membrane Association of Soluble Protein Activators of Rat Liver Adenylate Cyclase Evidence for Distinctness from the Guanine Nucleotide-binding Stimulating Protein (N S )
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Impaired formation of beta-adrenergic receptor-nucleotide regulatory protein complexes in pseudohypoparathyroidism
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