|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Patient II2 is asymptomatic, and has neither biochemical abnormalities, nor the familial CaSR gene mutation.He still has all his scalp hair.
|
28741586 |
2017 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To identify mutations of CASR gene in subjects affected by familial idiopathic hypoparathyroidism.
|
22789683 |
2012 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Dent's disease, an X-linked disorder characterized by low molecular weight proteinuria, hypercalciuria and nephrolithiasis, is due to mutations of the chloride/proton antiporter 5, CLC-5; ADHH is associated with activating mutations of the CaSR, which is a G-protein-coupled receptor; hypophosphatemic hypercalciuric nephrolithiasis associated with rickets is due to mutations in the type 2c sodium-phosphate co-transporter (NPT2c); and familial hypomagnesemia with hypercalciuria is due to mutations of paracellin-1, which is a member of the claudin family of membrane proteins that form the intercellular tight junction barrier in a variety of epithelia.
|
18446382 |
2009 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The role of inactivating and activating calcium-sensing receptor (CASR) mutations is discussed with respect to familial hypocalciuric hypercalemia (FHH) and autosomal dominant hypocalemia (ADH).
|
18370233 |
2008 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Dent's disease, an X-linked disorder characterized by low molecular weight proteinuria, hypercalciuria, and nephrolithiasis, is due to mutations of the chloride/proton antiporter, CLC-5; ADHH is associated with activating mutations of the calcium-sensing receptor, which is a G protein-coupled receptor; hypophosphatemic hypercalciuric nephrolithiasis associated with rickets is due to mutations in the type 2c sodium-phosphate cotransporter (NPT2c); and familial hypomagnesemia with hypercalciuria is due to mutations of paracellin-1, which is a member of the claudin family of membrane proteins that form the intercellular tight junction barrier in a variety of epithelia.
|
17872384 |
2007 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
De novo activating mutation of the CaSR gene typical of familial hypoparathyroidism is not common among patients with SIH in India.
|
16918956 |
2006 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene.
|
16642557 |
2006 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism.
|
15572418 |
2005 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the calcium-sensing receptor gene (CaSR) may result in disorders of calcium homeostasis manifesting as familial benign hypocalciuric hypercalcaemia (FBHH), neonatal severe hyperparathyroidism (NSHPT) or autosomal dominant hypocalcaemia with hypercalciuria (ADHH).
|
15588433 |
2004 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the CASR gene alter the set-point for extracellular ionised calcium [Ca2+]o and cause familial hypercalcaemia or hypocalcaemia.
|
10023897 |
1999 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations of the extracellular calcium (Ca2+e)-sensing receptor (CaR) gene, mostly in its extracellular domain, can cause both familial and sporadic hypoparathyroidism.
|
9661634 |
1998 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
The human CaSR gene is located on chromosome 3q13.3-q21, and loss of function CaSR mutations have been reported in the hypercalcaemic disorders of familial benign (hypocalciuric) hypercalcaemia (FBH or FHH) and neonatal severe primary hyperparathyroidism (NSHPT).
|
9920407 |
1998 |