Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains.
about
Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implicationsRegulation of Differentiation by Calcium-Sensing Receptor in Normal and Tumoral Developing Nervous SystemIn vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial beniExpression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor.Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells.Structural mechanism of ligand activation in human calcium-sensing receptor.Cloning and characterization of two promoters for the human calcium-sensing receptor (CaSR) and changes of CaSR expression in parathyroid adenomas.Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) geneCommon variants in the calcium-sensing receptor gene are associated with total serum calcium levels.Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cM region on chromosome 1qPolymorphisms in the calcium-sensing receptor gene are associated with clinical outcome of neuroblastoma.Structure and function of the human calcium-sensing receptor: insights from natural and engineered mutations and allosteric modulators.Interaction between birthweight and polymorphism in the calcium-sensing receptor gene in determination of adult bone mass: the Hertfordshire cohort study.Pharmacochaperone-mediated rescue of calcium-sensing receptor loss-of-function mutants.Association between calcium sensing receptor gene polymorphisms and chronic pancreatitis in a US population: role of serine protease inhibitor Kazal 1type and alcohol.Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.A novel CASR mutation in a Tunisian FHH/NSHPT family associated with a mental retardation.Functional characterization of calcium sensing receptor polymorphisms and absence of association with indices of calcium homeostasis and bone mineral density.Changes in cytoplasmic calcium determine the secretory response to extracellular cations in human parathyroid cells: a confocal microscopy study using FM1-43 dyeThe calcium sensing receptor and its alternatively spliced form in keratinocyte differentiation.
P2860
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P2860
Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains.
description
1996 nî lūn-bûn
@nan
1996 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年学术文章
@wuu
1996年学术文章
@zh-cn
1996年学术文章
@zh-hans
1996年学术文章
@zh-my
1996年学术文章
@zh-sg
1996年學術文章
@yue
name
Clustered inactivating mutatio ...... t receptor functional domains.
@ast
Clustered inactivating mutatio ...... t receptor functional domains.
@en
type
label
Clustered inactivating mutatio ...... t receptor functional domains.
@ast
Clustered inactivating mutatio ...... t receptor functional domains.
@en
prefLabel
Clustered inactivating mutatio ...... t receptor functional domains.
@ast
Clustered inactivating mutatio ...... t receptor functional domains.
@en
P2093
P3181
P356
P1476
Clustered inactivating mutatio ...... t receptor functional domains.
@en
P2093
Capuano IV
Garrett JE
Heath H 3rd
Jackson CE
Krapcho KJ
Leppert MF
P304
P3181
P356
10.1210/JC.81.4.1312
P407
P50
P577
1996-04-01T00:00:00Z