Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)-sensing receptor.

PubWeight™: 0.84‹?›

🔗 View Article (PMID 9253358)

Published in J Clin Endocrinol Metab on August 01, 1997

Authors

F De Luca1, K Ray, E E Mancilla, G F Fan, K K Winer, P Gore, A M Spiegel, J Baron

Author Affiliations

1: Developmental Endocrinology Branch, National Institute of Child Health and Human Development Bethesda, Maryland 20892, USA. delucaF@cc1.nichd.nih.gov

Articles by these authors

(truncated to the top 100)

Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science (1997) 7.95

Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med (1991) 7.17

The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindreds. Medicine (Baltimore) (1981) 5.29

Cost-effectiveness analysis in a setting of budget constraints--is it equitable? N Engl J Med (1996) 4.13

The Emerging Risk Factors Collaboration: analysis of individual data on lipid, inflammatory and other markers in over 1.1 million participants in 104 prospective studies of cardiovascular diseases. Eur J Epidemiol (2007) 3.81

Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription. Cell (1999) 3.16

Cancer risk after a hospital discharge diagnosis of endometriosis. Am J Obstet Gynecol (1997) 3.10

Antibodies directed against synthetic peptides distinguish between GTP-binding proteins in neutrophil and brain. J Biol Chem (1987) 2.99

Structure of the human liver/bone/kidney alkaline phosphatase gene. J Biol Chem (1988) 2.80

Toll-like receptors 2 and 4 are up-regulated during intestinal inflammation. Gastroenterology (2002) 2.80

Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect. Mol Vis (1998) 2.74

Tollip, a new component of the IL-1RI pathway, links IRAK to the IL-1 receptor. Nat Cell Biol (2000) 2.66

A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumors. Proc Natl Acad Sci U S A (2001) 2.57

Menin, the product of the MEN1 gene, is a nuclear protein. Proc Natl Acad Sci U S A (1998) 2.39

Increasing cancer risk in younger birth cohorts in Sweden. Lancet (1993) 2.39

Gi2 mediates alpha 2-adrenergic inhibition of adenylyl cyclase in platelet membranes: in situ identification with G alpha C-terminal antibodies. Proc Natl Acad Sci U S A (1989) 2.31

Reproduction of human fibrous dysplasia of bone in immunocompromised mice by transplanted mosaics of normal and Gsalpha-mutated skeletal progenitor cells. J Clin Invest (1998) 2.20

Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein. Am J Med (1983) 2.14

Signal transduction by guanine nucleotide binding proteins. Mol Cell Endocrinol (1987) 2.06

Cognitive processes and the decisions of some parents to forego pertussis vaccination for their children. J Clin Epidemiol (1996) 2.04

Prophylactic red-cell transfusions in pregnant patients with sickle cell disease. A randomized cooperative study. N Engl J Med (1988) 1.97

Abolition of the expression of inhibitory guanine nucleotide regulatory protein Gi activity in diabetes. Nature (1987) 1.93

Somatic mutation of the MEN1 gene in parathyroid tumours. Nat Genet (1997) 1.90

The hypotonic upper airway in obstructive sleep apnea: role of structures and neuromuscular activity. Am J Respir Crit Care Med (1998) 1.90

Order of magnitude smaller limit on the electric dipole moment of the electron. Science (2013) 1.89

Myristoylation of an inhibitory GTP-binding protein alpha subunit is essential for its membrane attachment. Proc Natl Acad Sci U S A (1990) 1.87

Body size in different periods of life and breast cancer risk in post-menopausal women. Int J Cancer (1998) 1.86

A second-generation genetic linkage map of the domestic dog, Canis familiaris. Genetics (1999) 1.85

Genetic mapping of the Gs-alpha subunit gene (GNAS1) to the distal long arm of chromosome 20 using a polymorphism detected by denaturing gradient gel electrophoresis. Genomics (1991) 1.84

Somatic mutations of the MEN1 tumor suppressor gene in sporadic gastrinomas and insulinomas. Cancer Res (1997) 1.82

Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. Proc Natl Acad Sci U S A (1990) 1.82

A transcript map for the 2.8-Mb region containing the multiple endocrine neoplasia type 1 locus. Genome Res (1997) 1.82

Multiple endocrine neoplasia type 1: clinical and genetic topics. Ann Intern Med (1998) 1.81

A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. Proc Natl Acad Sci U S A (1988) 1.80

Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. Hum Mol Genet (1997) 1.77

The G protein coupled to the thromboxane A2 receptor in human platelets is a member of the novel Gq family. J Biol Chem (1991) 1.73

Estrogen levels in childhood determined by an ultrasensitive recombinant cell bioassay. J Clin Invest (1994) 1.72

Oral contraceptives and breast cancer: final report of an epidemiological study. Br J Cancer (1983) 1.71

Identification of MEN1 gene mutations in sporadic carcinoid tumors of the lung. Hum Mol Genet (1997) 1.70

The tumor suppressor protein menin interacts with NF-kappaB proteins and inhibits NF-kappaB-mediated transactivation. Oncogene (2001) 1.69

Fibrous dysplasia of bone in the McCune-Albright syndrome: abnormalities in bone formation. Am J Pathol (1997) 1.67

Receptor and effector interactions of Gs. Functional studies with antibodies to the alpha s carboxyl-terminal decapeptide. FEBS Lett (1989) 1.65

Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone. J Bone Miner Res (2000) 1.65

Risk factors for colorectal cancer in patients with ulcerative colitis: a case-control study. Gastroenterology (1994) 1.64

Efficacy of pediatric trauma care: results of a population-based study. J Pediatr Surg (1993) 1.64

Body size and risk of breast cancer. Am J Epidemiol (1997) 1.63

Long-term hormone replacement therapy and risk of breast cancer in postmenopausal women. Am J Epidemiol (1995) 1.59

Results of a multidisciplinary strategy for management of mediastinal parathyroid adenoma as a cause of persistent primary hyperparathyroidism. Ann Surg (1992) 1.57

A linkage map of the canine genome. Genomics (1997) 1.56

Treatment of hypercalcemia secondary to parathyroid carcinoma with a novel calcimimetic agent. J Clin Endocrinol Metab (1998) 1.56

An activating Gs alpha mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome. J Clin Endocrinol Metab (1994) 1.54

Bacterial proteins that mediate the association of a defined subset of T cell receptor:CD4 complexes with class II MHC. J Immunol (1990) 1.54

Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism. Biochem Biophys Res Commun (1980) 1.54

The inclusion of patient testimonials in decision aids: effects on treatment choices. Med Decis Making (2001) 1.54

Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1. Arch Dermatol (1997) 1.53

G-protein beta gamma dimers. Membrane targeting requires subunit coexpression and intact gamma C-A-A-X domain. J Biol Chem (1991) 1.52

Specificity of the functional interactions of the beta-adrenergic receptor and rhodopsin with guanine nucleotide regulatory proteins reconstituted in phospholipid vesicles. J Biol Chem (1985) 1.52

Temporal assessment of Candida risk factors in the surgical intensive care unit. Arch Surg (2001) 1.51

The histopathology of fibrous dysplasia of bone in patients with activating mutations of the Gs alpha gene: site-specific patterns and recurrent histological hallmarks. J Pathol (1999) 1.48

Omission bias and pertussis vaccination. Med Decis Making (1994) 1.48

Parathyroid adenomas in the aortopulmonary window. Radiology (1996) 1.46

Look-back investigation after human immunodeficiency virus seroconversion in a pediatric dentist. J Infect Dis (1994) 1.46

Bidirectional transcriptional activity of PGK-neomycin and unexpected embryonic lethality in heterozygote chimeric knockout mice. Genesis (2001) 1.46

The GTP-binding regulatory proteins of neuroblastoma x glioma, NG108-15, and glioma, C6, cells. Immunochemical evidence of a pertussis toxin substrate that is neither Ni nor No. FEBS Lett (1986) 1.45

Cytoplasmic dynein (ddlc1) mutations cause morphogenetic defects and apoptotic cell death in Drosophila melanogaster. Mol Cell Biol (1996) 1.43

Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein GS. J Pediatr (1993) 1.43

Pseudohypoparathyroidism: the molecular basis for hormone resistance--a retrospective. N Engl J Med (1982) 1.42

Effects of estrogen on growth plate senescence and epiphyseal fusion. Proc Natl Acad Sci U S A (2001) 1.41

Fluoride stimulation of adenylate cyclase is dependent on the guanine nucleotide regulatory protein. J Biol Chem (1980) 1.40

Increased palmitoylation of the Gs protein alpha subunit after activation by the beta-adrenergic receptor or cholera toxin. J Biol Chem (1993) 1.40

Radioimmunoguided surgery benefits for recurrent colorectal cancer. Ann Surg Oncol (1997) 1.39

Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism: biochemical, endocrine, and genetic analysis of Albright's hereditary osteodystrophy in six kindreds. J Clin Endocrinol Metab (1986) 1.38

Insecticide-induced lupus erythematosus. Int J Dermatol (1994) 1.38

Regulation of growth plate chondrogenesis by bone morphogenetic protein-2. Endocrinology (2001) 1.37

Familial hypocalciuric hypercalcemia: recognition among patients referred after unsuccessful parathyroid exploration. Ann Intern Med (1980) 1.37

Multiple endocrine neoplasia type 1: new clinical and basic findings. Trends Endocrinol Metab (2001) 1.36

Organochlorine compounds in relation to breast cancer, endometrial cancer, and endometriosis: an assessment of the biological and epidemiological evidence. Crit Rev Toxicol (1995) 1.35

Effect of 3-amino-1,2,4-triazole on the stimulation of hepatic microsomal heme synthesis and induction of hepatic microsomal oxidases produced by phenobarbital. Mol Pharmacol (1969) 1.35

Activating and inactivating mutations of the alpha subunit of Gi2 protein have opposite effects on proliferation of NIH 3T3 cells. Proc Natl Acad Sci U S A (1991) 1.35

Palmitoylation of a G protein alpha i subunit requires membrane localization not myristoylation. J Biol Chem (1994) 1.34

Aspiration of enlarged parathyroid glands for parathyroid hormone assay. Radiology (1983) 1.34

Circulating parathyroid hormone activity: familial hypocalciuric hypercalcemia versus typical primary hyperparathyroidism. J Clin Endocrinol Metab (1978) 1.33

Linkage analysis and comparative mapping of canine progressive rod-cone degeneration (prcd) establishes potential locus homology with retinitis pigmentosa (RP17) in humans. Proc Natl Acad Sci U S A (1998) 1.33

The colonoscopic miss rate and true one-year recurrence of colorectal neoplastic polyps. Polyp Prevention Study Group. Am J Gastroenterol (1999) 1.33

Identification of the GTP-binding protein encoded by Gi3 complementary DNA. J Biol Chem (1988) 1.33

An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds. N Engl J Med (1982) 1.33

Reoperative parathyroid surgery for persistent hyperparathyroidism. Surgery (1978) 1.32

Divalent cation metabolism. Familial hypocalciuric hypercalcemia versus typical primary hyperparathyroidism. Am J Med (1978) 1.32

The association between traumatic experience, paranoia and hallucinations: a test of the predictions of psychological models. Acta Psychiatr Scand (2007) 1.32

Mutations of the MEN1 tumor suppressor gene in pituitary tumors. Cancer Res (1997) 1.31

Lipopolysaccharide response is linked to the GTP binding protein, Gi2, in the promonocytic cell line U937. J Biol Chem (1989) 1.30

Specificity of receptor-G protein interactions. Discrimination of Gi subtypes by the D2 dopamine receptor in a reconstituted system. J Biol Chem (1990) 1.29

Development of opiate receptors and GTP-binding regulatory proteins in neonatal rat brain. J Biol Chem (1987) 1.29

Multiple endocrine neoplasia type 1: clinical and genetic features of the hereditary endocrine neoplasias. Recent Prog Horm Res (1999) 1.29

Chemically induced hypothyroidism produces elevated amounts of the alpha subunit of the inhibitory guanine nucleotide binding protein (Gi) and the beta subunit common to all G-proteins. Biochem J (1987) 1.28

Multisite phosphorylation of the alpha subunit of transducin by the insulin receptor kinase and protein kinase C. Proc Natl Acad Sci U S A (1986) 1.28

Menin molecular interactions: insights into normal functions and tumorigenesis. Horm Metab Res (2005) 1.28

Organochlorine compounds and estrogen-related cancers in women. Cancer Causes Control (1995) 1.27

Functional reconstitution of the alpha 2-adrenergic receptor with guanine nucleotide regulatory proteins in phospholipid vesicles. J Biol Chem (1986) 1.27

Antibodies which recognize the C-terminus of the inhibitory guanine-nucleotide-binding protein (Gi) demonstrate that opioid peptides and foetal-calf serum stimulate the high-affinity GTPase activity of two separate pertussis-toxin substrates. Biochem J (1988) 1.27