KEGG   NETWORK: N00292
Entry
N00292                      Network                                

Name
Mutation-inactivated CASR to CasR-PTH signaling pathway
Definition
Ca2+ -> CASR* // GNAQ
  Expanded
C00076 -> 846v1 // 2776
Class
nt06318 CaSR-PTH signaling
Type
Variant
Disease
H00246  Primary hyperparathyroidism
H02030  Neonatal hyperparathyroidism
Gene
846  CASR; calcium sensing receptor
2776  GNAQ; G protein subunit alpha q
Variant
846v1 (CASR*)  CASR mutation
Metabolite
C00076  Calcium cation
Reference
  Authors
Warner J, Epstein M, Sweet A, Singh D, Burgess J, Stranks S, Hill P, Perry-Keene D, Learoyd D, Robinson B, Birdsey P, Mackenzie E, Teh BT, Prins JB, Cardinal J
  Title
Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications.
  Journal
J Med Genet 41:155-60 (2004)
DOI:10.1136/jmg.2003.016725
Reference
  Authors
Hendy GN, Guarnieri V, Canaff L
  Title
Calcium-sensing receptor and associated diseases.
  Journal
Prog Mol Biol Transl Sci 89:31-95 (2009)
DOI:10.1016/S1877-1173(09)89003-0
Reference
  Authors
Colella M, Gerbino A, Hofer AM, Curci S
  Title
Recent advances in understanding the extracellular calcium-sensing receptor.
  Journal
F1000Res 5:F1000 Faculty Rev-2535 (2016)
DOI:10.12688/f1000research.8963.1
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