JCI - Citations to 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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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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Citations to this article (64)

Title and authors	Publication	Year
Venous thrombosis in a pseudohypoparathyroidism patient with a novel GNAS frameshift mutation and complete resolution of vascular calcifications with acetazolamide treatment Menevse TS, Iwasaki Y, Abali ZY, Tosun BG, Helvacioglu D, Dogru Ö, Bugdayci O, Cyr SM, Guran T, Bereket A, Bastepe M, Turan S	Hormone Research in Paediatrics	2023
Aberrant Bone Regulation in Albright Hereditary Osteodystrophy dueto Gnas Inactivation: Mechanisms and Translational Implications P McMullan, E Germain-Lee	Current Osteoporosis Reports	2022
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
Management of pseudohypoparathyroidism: EL Germain-Lee	Current Opinion in Pediatrics	2019
Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age, Hormonal Status, and BMI P Salemi, JM Olson, LE Dickson, EL Germain-Lee	The Journal of clinical endocrinology and metabolism	2017
Progressive Development of PTH Resistance in Patients With Inactivating Mutations on the Maternal Allele of GNAS A Usardi, A Mamoune, E Nattes, JC Carel, A Rothenbuhler, A Linglart	The Journal of clinical endocrinology and metabolism	2017
Endocrinology: Adult and Pediatric M Gurnell, TJ Visser, P Beck-Peccoz, VK Chatterjee	Endocrinology: Adult and Pediatric	2016
Endocrinology C Napier, SH Pearce	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	Annales d'Endocrinologie	2015
Reference Module in Biomedical Sciences DL Sackett, RB Haynes		2014
The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted gene Serap Turan, Murat Bastepe		2013
Methods in Enzymology JD Stone, AS Chervin, DH Aggen, DM Kranz	Protein Engineering for Therapeutics Part B	2012
Heterotopic ossifications in a mouse model of albright hereditary osteodystrophy DL Huso, S Edie, MA Levine, W Schwindinger, Y Wang, H Jüppner, EL Germain-Lee	PloS one	2011
Fetal and Neonatal Physiology LH Johnson, VK Bhutani	Fetal and Neonatal Physiology	2011
Heterotopic Ossifications in a Mouse Model of Albright Hereditary Osteodystrophy DL Huso, S Edie, MA Levine, W Schwindinger, Y Wang, H Jüppner, EL Germain-Lee, F Beier	PloS one	2011
Principles of Bone Biology CJ Rosen, T Niu	Principles of Bone Biology	2008
Compound Heterozygous Mutations in the GNAS Gene of a Boy with Morbid Obesity, Thyroid-Stimulating Hormone Resistance, Pseudohypoparathyroidism, and a Prothrombotic State K Freson, B Izzi, J Jaeken, MV Helvoirt, C Thys, C Wittevrongel, F de Zegher, CV Geet	The Journal of clinical endocrinology and metabolism	2008
Advances in Enzymology - and Related Areas of Molecular Biology H Waelsch	Advances in Enzymology and Related Areas of Molecular Biology	2006
A new mutation in the growth hormone-releasing hormone receptor gene in two Israeli Arab families O Haskin, L Lazar, L Jaber, R Salvatori, M Alba, L Kornreich, M Phillip, G Gat-Yablonski	Journal of Endocrinological Investigation	2006
The Pseudohypoparathyroidism Type 1b Locus Is Linked to a Region Including GNAS1 at 20q13.3 SM de Beur, JR O'Connell, R Peila, J Cho, Z Deng, S Kam, MA Levine	Journal of Bone and Mineral Research	2003
Discordance between Genetic and Epigenetic Defects in Pseudohypoparathyroidism Type 1b Revealed by Inconsistent Loss of Maternal Imprinting at GNAS1 SJ de Beur, C Ding, E Germain-Lee, J Cho, A Maret, MA Levine	The American Journal of Human Genetics	2003
Decreased Expression of the GHRH Receptor Gene Due to a Mutation in a Pit-1 Binding Site R Salvatori, X Fan, PE Mullis, A Haile, MA Levine	Molecular Endocrinology	2002
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	Clinical Endocrinology	2001
Absence of mutations in the growth hormone (GH)-releasing hormone receptor gene in GH-secreting pituitary adenomas R Salvatori, RV Thakker, MB Lopes, X Fan, JR Eswara, D Ellison, P Lees, B Harding, I Yang, MA Levine	Clinical Endocrinology	2001
The Parathyroids SJ Marx	The Parathyroids	2001
Endocrine Manifestations of Stimulatory G Protein α-Subunit Mutations and the Role of Genomic Imprinting LS Weinstein, S Yu, DR Warner, J Liu	Endocrine reviews	2001
Deficiency of the α-Subunit of the Stimulatory G Protein and Severe Extraskeletal Ossification MC Eddy, SM de beur, SM Yandow, WH McAlister, EM Shore, FS Kaplan, MP Whyte, MA Levine	Journal of Bone and Mineral Research	2000
Selective Resistance to Parathyroid Hormone Caused by a Novel Uncoupling Mutation in the Carboxyl Terminus of Gα s: A CAUSE OF PSEUDOHYPOPARATHYROIDISM TYPE Ib WI Wu, WF Schwindinger, LF Aparicio, MA Levine	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 SM de Beur, CL Ding, MC LaBuda, TB Usdin, MA Levine	The Journal of clinical endocrinology and metabolism	2000
The Role of Genomic Imprinting of Gsα in the Pathogenesis of Albright Hereditary Osteodystrophy LS Weinstein, S Yu	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	Journal of Bone and Mineral Research	1996
Mutations of signal-transducing G proteins in human disease P Schnabel, M Bhm	Journal of Molecular Medicine	1995
Differential expression of guanosine triphosphate binding proteins in men at high and low risk for the future development of alcoholism GS Wand, C Waltman, CS Martin, ME McCaul, MA Levine, D Wolfgang	Journal of Clinical Investigation	1994
Molecular Endocrinology FF Bolander	Molecular Endocrinology	1994
A novel Gs alpha mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase WF Schwindinger, A Miric, D Zimmerman, MA Levine	The Journal of biological chemistry	1994
Pseudohypoparathyroidism with osteitis fibrosa cystica: Direct demonstration of skeletal responsiveness to parathyroid hormone in cells cultured from bone TM Murray, LG Rao, MM Wong, JP Waddell, R McBroom, CS Tam, F Rosen, MA Levine	Journal of Bone and Mineral Research	1993
G protein mutations in human disease LS Weinstein, A Shenker	Clinical Biochemistry	1993
Impaired β -adrenergic Receptor Activation of Adenylyl Cyclase in Airway Smooth Muscle in the Basenji-Greyhound Dog Model of Airway Hyperresponsiveness C Emala, C Black, C Curry, MA Levine, CA Hirshman	American journal of respiratory cell and molecular biology	1993
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	The Journal of biological chemistry	1993
The effect of donor age on human fibroblast beta-adrenergic receptor response and agonist-induced desensitization D Conlon, K O'Malley, SA Kilfeather	Mechanisms of Ageing and Development	1992
Abnormal response to a human B cell growth factor in patients with common variable immunodeficiency (CVI) JL Ambrus, S Haneiwich, L Chesky, P McFarland, MG Peters, RJ Engler	Journal of Allergy and Clinical Immunology	1991
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	New England Journal of Medicine	1990
Endocrine Function and Aging HJ Armbrecht, RM Coe, N Wongsurawat		1990
Increase of the 40,000-mol wt pertussis toxin substrate (G protein) in the failing human heart AM Feldman, AE Cates, WB Veazey, RE Hershberger, MR Bristow, KL Baughman, WA Baumgartner, CV Dop	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 DP Brennan, MA Levine	The Journal of biological chemistry	1987
Olfactory dysfunction in humans with deficient guanine nucleotide-binding protein RS Weinstock, HN Wright, AM Spiegel, MA Levine, AM Moses	Nature	1986
The Receptors RG Rosenfeld, RL Hintz	The Receptors	1986
Membrane Association of Soluble Protein Activators of Rat Liver Adenylate Cyclase Evidence for Distinctness from the Guanine Nucleotide-binding Stimulating Protein (N S ) TM Kelly, MA Levine, MA Pineyro, RI Gregerman	Endocrine Research	1986
Clinical Endocrinology A Labhart	Clinical Endocrinology	1986
Muscarinic receptors on intact human fibroblasts. Absence of receptor activity in adult skin cells DA van Riper, MP Absher, RH Lenox	Journal of Clinical Investigation	1985
Clinical Implications of Guanine Nucleotide–Binding Proteins as Receptor–Effector Couplers JS Flier, LH Underhill, AM Spiegel, P Gierschik, MA Levine, RW Downs	New England Journal of Medicine	1985
Impaired formation of beta-adrenergic receptor-nucleotide regulatory protein complexes in pseudohypoparathyroidism JA Heinsimer, AO Davies, RW Downs, MA Levine, AM Spiegel, MK Drezner, AD Lean, KA Wreggett, MG Caron, RJ Lefkowitz	Journal of Clinical Investigation	1984
Current Topics in Cellular Regulation G Cahill, T Aoki, R Smith	Current Topics in Cellular Regulation	1981

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