Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor

Journal of Clinical Endocrinology and Metabolism

Volumn 85, Issue 5, 2000, Pages 2042-2047

  Carling, Tobias ^a   Szabo, Eva ^a   Bai, Mei ^b   Ridefelt, Peter ^a   Westin, Gunnar ^a   Gustavsson, Peter ^a   Trivedi, Sunita ^b   Hellman, Per ^a   Brown, Edward M ^b   Dahl, Niklas ^a   Rastad, Jonas ^a  

^a UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; CALCIUM SENSING RECEPTOR; LEUCINE; MAGNESIUM; PARATHYROID HORMONE; PHENYLALANINE;

ADULT; ARTICLE; CALCIUM CELL LEVEL; CALCIUM EXCRETION; CALCIUM URINE LEVEL; CHROMOSOME 3Q; CLINICAL ARTICLE; EXTRACELLULAR CALCIUM; FEMALE; GENE MUTATION; GENETIC LINKAGE; HUMAN; HYPERCALCEMIA; HYPERCALCIURIA; MAGNESIUM BLOOD LEVEL; MALE; PARATHYROID ADENOMA; PARATHYROID HORMONE BLOOD LEVEL; PARATHYROID HORMONE RELEASE; PARATHYROID HYPERPLASIA; PARATHYROIDECTOMY; POINT MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADULT; AGED; AMINO ACID SUBSTITUTION; CALCIUM; CALCIUM METABOLISM DISORDERS; CALCIUM-BINDING PROTEINS; CELL LINE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 3; DNA; EXONS; FEMALE; GENETIC MARKERS; HETEROZYGOTE; HUMANS; HYPERCALCEMIA; MALE; MIDDLE AGED; MUTAGENESIS, SITE-DIRECTED; PEDIGREE; POINT MUTATION; RECOMBINANT PROTEINS; TRANSFECTION;

EID: 17744369268     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.85.5.2042     Document Type: Article

References (45)

1. The calcium-sensing receptor: A window into the physiology and pathophysiology of mineral ion metabolism
2. (2+)-sensing receptor from bovine parathyroid
3. (2+)sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
4. Mutations in the calcium-sensing receptor and their clinical implications
5. Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism
6. (2+)sensing-receptor gene that cause familial hypocalciuric hypercalcemia
7. (2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
8. (2+)sensing receptor gene
9. Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains
10. (2+)-sensing receptor gene mutation
11. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor
12. (2+)-sensing receptor gene in human parathyroid tumors
13. Familial hypocalciuric hypercalcemia
14. Familial hypocalciuric hypercalcemia
15. The hypocalciruic or benign variant of familial hypercalcemia: Clinical and biochemical features in fifteen kindreds
16. Parathyroid glands in familial benign hypercalcemia (familial hypocalciuric hypercalcemia)
17. Familial isolated hyperparathyroidism maps to the hyperparathyroidism-jaw tumor locus in 1q21-q32 in a subset of families
18. Familial hyperparathyroid syndromes
19. Hereditary hyperparathyroidism-jaw tumor syndrome: The endocrine tumor gene HRPT2 maps to chromosome 1q21-q31
20. Multiple endocrine neoplasia type 1: Clinical features and screening
21. Vitamin D receptor genotypes in primary hyperparathyroidism
22. Frequent loss of chromosome arm 1p DNA in parathyroid adenomas
23. In situ hybridization mapping of a 500-kDa calcium-sensing protein gene (LRP2) to human chromosome region 2q31->q32.1 and porcine chromosome region 15q22->q24
24. The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families
25. Positional cloning of the gene for multiple endocrine neoplasia type 1
26. Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: Evidence for locus heterogeneity
27. Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs
28. Rapid and efficient site-specific mutagenesis without phenotypic selection
29. 2+-sensing receptor
30. Cytosolic calcium responses of single rMTC 44-2 cells to stimulation with external calcium and potassium
31. Antibodies cytotoxic to bovine parathyroid cells in automunune hypoparathyroidism
32. Vitamin D receptor polymorphisms correlate to parathyroid cell function in primary hyperparathyroidism
33. Easy calculations of lod scores and genetic risks on smaller computers
34. The parathyroid glands
35. Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13
36. Genetic basis of endocrine disease: Multiple endocrine neoplasia type 2
37. A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors
38. Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: Multiple different phenotypes associated with an inactivating Alu insertion mutation of the calcium-sensing receptor gene
39. Divalent cation metabolism. Familial hypocalciuric hypercalcemia vs. typical primary hyperparathyroidism
40. Primary hyperparathyroidism-epidemiology, clinical picture and diagnosis
41. Population-based health screening for primary hyperparathyroidism with serum calcium and parathyroid hormone values in menopausal women
42. Maximal urineconcentrating ability: Familial hypocalciuric hypercalcemia vs. typical primary hyperparathyroidism
43. Familial hypocalciuric hypercalcemia: Mild expression of the gene in heterozygotes and severe expression in homozygotes
44. Familial benign hypercalcemia: Hypercalciuria and hypocalciuria in affected members of a small kindred
45. The parathyroid glands in familial hypocalciuric hypercalcemia