Autosomal Dominant Hypocalcemia Caused by a Novel Mutation in the Loop 2 Region of the Human Calcium Receptor Extracellular Domain

Journal of Bone and Mineral Research

Volumn 17, Issue 8, 2002, Pages 1461-1469

  Hu, Jianxin ^a   Mora, Stefano ^b   Colussi, Giacomo ^c,d   Proverbio, Maria Carla ^b   Jones, Kendra A ^a   Bolzoni, Laura ^b   De Ferrari, Maria E ^c   Civati, Giovanni ^c   Spiegel, Allen M ^a  

^a NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^b UNIVERSITY OF MILAN   (Italy)

^c OSPEDALE NIGUARDA CA GRANDA   (Italy)

^d OSPEDALE DI CIRCOLO   (Italy)

Author keywords

Autosomal dominant hypocalcemia; Extracellular domain; Human calcium receptor; Hypoparathyroidism; Mutation

Indexed keywords

CALCIUM; CALCIUM BINDING PROTEIN; PARATHYROID HORMONE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CALCIUM ABSORPTION; CALCIUM BLOOD LEVEL; EXTRACELLULAR CALCIUM; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; HYPOCALCEMIA; HYPOPARATHYROIDISM; MISSENSE MUTATION; PROTEIN DOMAIN; SITE DIRECTED MUTAGENESIS; ADULT; AMINO ACID SEQUENCE; BLOOD; CELL LINE; CHEMISTRY; DOMINANT GENE; FEMALE; GENETICS; MOLECULAR GENETICS; POINT MUTATION;

ADULT; AMINO ACID SEQUENCE; CALCIUM; CALCIUM-BINDING PROTEINS; CELL LINE; FEMALE; GENES, DOMINANT; HUMAN; HYPOCALCEMIA; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; PARATHYROID HORMONES; POINT MUTATION; SUPPORT, NON-U.S. GOV'T; HUMANS; PARATHYROID HORMONE;

EID: 0035992654     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.2002.17.8.1461     Document Type: Article

References (26)

1. Extracellular calcium sensing and extracellular calcium signaling
2. 2+ to function as a versatile extracellular first messenger
3. 2+-sensing receptor gene in two Japanese patients with sporadic hypoparathyroidism with hypercalciuria
4. 2+ receptor
5. 2+sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism
6. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor
7. 2+sensing receptor
8. 2+ receptor/metabotropic glutamate chimeric receptors
9. 2+-sensing receptor
10. New mutation of the calcium-sensing receptor
11. A novel activating mutation (C129S) in the calcium-sensing receptor gene in a Japanese family with autosomal dominant hypocalcemia
12. Structural basis of glutamate recognition by a dimeric metabotropic glutamate receptor
13. Calcium metabolism and calciotropic hormone levels in Gitelman's syndrome
14. Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism
15. A mouse model of human hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
16. The carhoxyl terminus of the human calcium receptor: Requirements for cell-surface expression and signal transduction
17. Identification of the sites of N-linked glycosylation on the human calcium receptor and assessment of their role in cell surface expression and signal transduction
18. 2+-sensing receptor gene mutation
19. Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia
20. Extracellular calcium-sensing receptor: Structural and functional features and association with diseases
21. Molecular tinkering of G protein-coupled receptors: An evolutionary success
22. 2+ receptor
23. 2+ receptor cysteine-rich domain: Analysis of function of mutant and chimeric receptors
24. 2+ receptor are not linked by disulfide bonds
25. The ligand-binding domain in metabotropic glutamate receptors is related to bacterial periplasmic binding proteins
26. Functional importance of the Ala 116-Pro 136 region in the calcium-sensing receptor