Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
Tóm tắt
Từ khóa
Tài liệu tham khảo
Attie, 1983, Urinary calcium excretion in familial hypocalciuric hypercalcemia: persistence of relative hypocalciuria after induction of hypoparathyroidism, J. Clin. Invest., 72, 667, 10.1172/JCI111016
Ausubel, 1989
Bell, 1986, Human epidermal growth factor precursor: cDNA sequence, expression in vitro and gene organization, Nucl. Acids Res., 14, 8427, 10.1093/nar/14.21.8427
Brown, 1991, Extracellular Ca2+ sensing, regulation of parathyroid cell function, and role of Ca2+ and other ions as extracellular (first) messengers, Physiol. Rev., 71, 371, 10.1152/physrev.1991.71.2.371
Brown, 1993, Cloning, expression, and characterization of an extracellular Ca2+ sensing receptor from bovine parathyroid, Nature, 366, 575, 10.1038/366575a0
Chou, 1992, The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families, Nature Genet., 1, 295, 10.1038/ng0792-295
Feinberg, 1984, A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity, Anal. Biochem., 137, 266, 10.1016/0003-2697(84)90381-6
Gamba, 1993, Primary structure and functional expression of a cDNA encoding the thiazide-sensitive, electroneutral sodium-chloride cotransporter, 90, 2749
Holcombe, 1987, Relationship of the genes for Chediak-Higashi syndrome (beige) and the T-cell receptor γ chain in mouse and man, Genomics, 1, 287, 10.1016/0888-7543(87)90058-9
Khosla, 1993, Calcium infusion suggests a “set-point” abnormality of parathyroid gland function in familial benign hypercalcemia and more complex disturbances in primary hyperparathyroidism, J. Clin. Endocrinol. Metabol., 76, 715, 10.1210/jc.76.3.715
Kunkel, 1993, Charged amino acids required for signal transduction by the m3 muscarinic acetylcholine receptor, EMBO J., 12, 3809, 10.1002/j.1460-2075.1993.tb06059.x
Law, 1985, Familial benign hypercalcemia (hypocalciuric hypercalcemia): clinical and pathogenetic studies in 21 families, Ann. Int. Med., 102, 511, 10.7326/0003-4819-102-4-511
Maggio, 1993, Coexpression studies with mutant muscarinic/adrenergic receptors provide evidence for intramolecular “cross-talk” between G-protein-linked receptors, 90, 3103
Marx, 1977, Family studies in patients with primary parathyroid hyperplasia, Am. J. Med., 62, 698, 10.1016/0002-9343(77)90873-7
Marx, 1981, The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindreds, Medic̊ine, 60, 397, 10.1097/00005792-198111000-00002
Marx, 1982, An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds, N. Engl. J. Med., 306, 257, 10.1056/NEJM198202043060502
Marx, 1985, Familial hypocalciuric hypercalcemia: mild expression of the gene in heterozygotes and severe expression in homozygotes, Am. J. Med., 62, 698, 10.1016/0002-9343(77)90873-7
Marx, 1986, Secretory dysfunction in parathyroid cells from a neonate with severe primary hyperparathyroidism, J. Clin. Endocrinol. Metabol., 62, 445, 10.1210/jcem-62-2-445
Masu, 1991, Sequence and expression of a metabotropic glutamate receptor, Nature, 349, 760, 10.1038/349760a0
O'Hara, 1993, The ligand-binding domain in metabotropic glutamate receptors is related to bacterial periplasmic binding proteins, Neuron, 11, 41, 10.1016/0896-6273(93)90269-W
Ott, 1983
Pollak, 1994, Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism: the effects of mutant gene dosage on phenotype, J. Clin. Invest., 10.1172/JCI117062
Rosenzweig, 1991, Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic diagnosis of blood lymphocytes, N. Engl. J. Med., 325, 1753, 10.1056/NEJM199112193252501
Southern, 1975, Detection of specific sequences amoung DNA fragments separated by gel electrophoresis, J. Mol. Biol., 98, 503, 10.1016/S0022-2836(75)80083-0
Steinmann, 1984, Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcemia, Helv. Pediatr. Acta, 39, 171