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A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
- Source :
-
Nature genetics [Nat Genet] 1995 Dec; Vol. 11 (4), pp. 389-94. - Publication Year :
- 1995
-
Abstract
- Mice lacking the calcium-sensing receptor (Casr) were created to examine the receptor's role in calcium homeostasis and to elucidate the mechanism by which inherited human Casr gene defects cause diseases. Casr+/- mice, analogous to humans with familial hypocalciuric hypercalcemia, had benign and modest elevations of serum calcium, magnesium and parathyroid hormone levels as well as hypocalciuria. In contrast, Casr-/- mice, like humans with neonatal severe hyperparathyroidism, had markedly elevated serum calcium and parathyroid hormone levels, parathyroid hyperplasia, bone abnormalities, retarded growth and premature death. Our findings suggest that Casr mutations cause these human disorders by reducing the number of functional receptor molecules on the cell surface.
- Subjects :
- Animals
Bone Diseases, Developmental genetics
Calcium blood
Calcium urine
Calcium-Binding Proteins genetics
Heterozygote
Homeostasis
Homozygote
Humans
Hyperplasia
Infant, Newborn
Mice
Mice, Inbred C57BL
Mice, Knockout
Molecular Sequence Data
Parathyroid Glands pathology
Parathyroid Hormone blood
Calcium-Binding Proteins physiology
Disease Models, Animal
Hypercalcemia genetics
Hypercalcemia metabolism
Hyperparathyroidism genetics
Hyperparathyroidism metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 1061-4036
- Volume :
- 11
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Nature genetics
- Publication Type :
- Academic Journal
- Accession number :
- 7493018
- Full Text :
- https://doi.org/10.1038/ng1295-389