Localization of Familial Benign Hypercalcemia, Oklahoma Variant (FBHOk), to Chromosome 19q13
Tài liệu tham khảo
Ashworth, 1995, An integrated metric physical map of human chromosome 19, Nat Genet, 11, 422, 10.1038/ng1295-422
Bachs, 1994, Calmodulin and calmodulin-binding proteins in the nucleus, Cell Calcium, 16, 289, 10.1016/0143-4160(94)90092-2
Bai, 1997, J Clin Invest, 99, 88, 10.1172/JCI119137
Berchtold, 1993, Localization of the human bona fide calmodulin genes CALM1, CALM2, and CALM3 to chromosomes 14q24-q31, 2p21.1-p21.3, and 19q13.2-q13.3, Genomics, 16, 461, 10.1006/geno.1993.1211
Birnbaumer, 1995, Mutations and diseases of G protein coupled receptors, J Recept Signal Transduct Res, 15, 131, 10.3109/10799899509045213
Brown, 1997, Mutations in the calcium-sensing receptor and their clinical implications, Horm Res, 48, 199, 10.1159/000185516
Chou, 1992, The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families, Nat Genet, 1, 295, 10.1038/ng0792-295
Crivici, 1995, Molecular and structural basis of target recognition by calmodulin, Annu Rev Biophys Biomol Struct, 24, 85, 10.1146/annurev.bb.24.060195.000505
Durocher, 1995, Genetic linkage mapping of the dehydroepiandrosterone sulfotransferase (STD) gene on the chromosome 19q13.3 region, Genomics, 29, 781, 10.1006/geno.1995.9935
European Consortium on MEN1, 1997, The Linkage disequilibrium studies in multiple endocrine neoplasia type 1 (MEN1), Hum Genet, 100, 657, 10.1007/s004390050569
Gnegy, 1995, Calmodulin: effects of cell stimuli and drugs on cellular activation, Prog Drug Res, 45, 33
Gyapay, 1994, The 1993-94 Généthon human genetic linkage map, Nat Genet, 7, 246, 10.1038/ng0694supp-246
Heath, 1993, Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity, Am J Hum Genet, 53, 193
Hebert, 1997, Role of the Ca2+-sensing receptor in divalent mineral ion homeostasis, J Exp Biol, 200, 295, 10.1242/jeb.200.2.295
Herrada, 1997, A novel family of putative pheromone receptors in mammals with a topographically organized and sexually dimorphic distribution, Cell, 90, 763, 10.1016/S0092-8674(00)80536-X
Hinson, 1997, Identification of putative transmembrane receptor sequences homologous to the calcium-sensing G-protein coupled receptor, Genomics, 45, 279, 10.1006/geno.1997.4943
Kahn, 1998, Calmodulin regulates L-selectin adhesion molecule expression and function through a protease-dependent mechanism, Cell, 92, 809, 10.1016/S0092-8674(00)81408-7
Koller, 1990, Structural organization of the human CaMIII calmodulin gene, Biochim Biophys Acta, 1087, 180, 10.1016/0167-4781(90)90203-E
Lloyd, 1996, A common molecular basis for three inherited kidney stone diseases, Nature, 379, 445, 10.1038/379445a0
Matsunami, 1997, A multigene family encoding a diverse array of putative pheromone receptors in mammals, Cell, 90, 775, 10.1016/S0092-8674(00)80537-1
McKusick, 1998, Hypocalciuric hypercalcemia, familial, 951
McMurtry, 1992, Significant developmental elevation in serum parathyroid hormone levels in a large kindred with familial benign (hypocalciuric) hypercalcemia, Am J Med, 93, 247, 10.1016/0002-9343(92)90229-5
Naito, 1998, Putative pheromone receptors related to the Ca2+-sensing receptor in Fugu, Proc Natl Acad Sci USA, 95, 5178, 10.1073/pnas.95.9.5178
Pearce, 1995, Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism, J Clin Invest, 96, 2683, 10.1172/JCI118335
Pearce, 1996, Calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia with recurrent pancreatitis, Clin Endocrinol (Oxf), 45, 675, 10.1046/j.1365-2265.1996.750891.x
Pearce, 1996, Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells, J Clin Invest, 98, 1860, 10.1172/JCI118987
Pearce, 1996, A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor, N Engl J Med, 335, 1115, 10.1056/NEJM199610103351505
Pollak, 1993, Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism, Cell, 75, 1297, 10.1016/0092-8674(93)90617-Y
Pollak, 1994, Autosomal dominant hypocalcemia caused by a Ca(2+)-sensing receptor gene mutation, Nat Genet, 8, 303, 10.1038/ng1194-303
Reed, 1994, Chromosome-specific microsatellite sets for fluorescence-based, semiautomated genome mapping, Nat Genet, 7, 390, 10.1038/ng0794-390
Rhyner, 1994, Structure of the human CALM1 calmodulin gene and identification of two CALM1-related pseudogenes CALM1P1 and CALM2P2, Eur J Biochem, 225, 71, 10.1111/j.1432-1033.1994.00071.x
Thakker, 1990, Mapping of the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies, J Clin Invest, 86, 40, 10.1172/JCI114712
Trump, 1995, Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) hypercalcemia (FBH) and developmental elevations in serum parathyroid hormone levels, indicate a third locus for FBH, Hum Genet, 96, 183, 10.1007/BF00207376