|
rs1442384172
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified in one family a p.Arg50Gln mutation in the APOB gene, which occurs in a region not usually associated with ADH.
|
29386597 |
2018 |
|
rs28942111
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Pravastatin treatment of multiple clones led to an average increase of LDL uptake of 2.19 ± 0.77-fold in HLC-S127R compared to 1.38 ± 0.49 fold in control HLCs (P<0.01), in line with the good response to statin treatment of individuals carrying the S127R mutation (mean LDL cholesterol reduction=60.4%, n=5).
|
26586530 |
2016 |
|
rs369067856
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Compared to control cells, cells originally derived from an individual with ADH (HLC-S127R) secreted less PCSK9 in the media (-38.5%; P=0.038) and had a 71% decrease (P<0.001) of low-density lipoprotein (LDL) uptake, whereas cells originally derived from an individual with FHBL (HLC-R104C/V114A) displayed a strong decrease in PCSK9 secretion (-89.7%; P<0.001) and had a 106% increase (P=0.0104) of LDL uptake.
|
26586530 |
2016 |
|
rs775988212
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Compared to control cells, cells originally derived from an individual with ADH (HLC-S127R) secreted less PCSK9 in the media (-38.5%; P=0.038) and had a 71% decrease (P<0.001) of low-density lipoprotein (LDL) uptake, whereas cells originally derived from an individual with FHBL (HLC-R104C/V114A) displayed a strong decrease in PCSK9 secretion (-89.7%; P<0.001) and had a 106% increase (P=0.0104) of LDL uptake.
|
26586530 |
2016 |
|
rs879254464
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Compared to control cells, cells originally derived from an individual with ADH (HLC-S127R) secreted less PCSK9 in the media (-38.5%; P=0.038) and had a 71% decrease (P<0.001) of low-density lipoprotein (LDL) uptake, whereas cells originally derived from an individual with FHBL (HLC-R104C/V114A) displayed a strong decrease in PCSK9 secretion (-89.7%; P<0.001) and had a 106% increase (P=0.0104) of LDL uptake.
|
26586530 |
2016 |
|
rs104893706
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We then selected two activating mutations locating in the extracellular (C129S) and transmembrane (A843E) domains, and generated two strains of CaSR knock-in mice to build an ADH mouse model.
|
25967373 |
2015 |
|
rs965814
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genome-wide analysis on 15 family members detected significant association for ADH and dbSNP RS ID rs965814 (G/A), located in 8q24.22 cytoband.
|
20629670 |
2011 |
|
rs137929307
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings imply that major rearrangements of the LDLR gene as well as 2 point mutations (p.G592E in LDLR and p.R3527Q in APOB) are frequent causes of ADH in Poland.
|
20145306 |
2010 |
|
rs397514728
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we describe members of a Korean family with a heterozygous Pro221Leu mutation causing ADH.This case is the first report in Korea.
|
20119591 |
2010 |
|
rs5742904
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings imply that major rearrangements of the LDLR gene as well as 2 point mutations (p.G592E in LDLR and p.R3527Q in APOB) are frequent causes of ADH in Poland.
|
20145306 |
2010 |
|
rs144467873
|
|
|
0.010 |
GeneticVariation |
BEFREE |
On the other hand, we identified six previously reported LDLR gene mutations (C107Y, D69N, R385W, W462X, G170X, V408M), two novel LDLR gene mutations (FsG631 and splice junction mutation of intron 10), and one known mutation (R3500W) and one novel missense mutation (T3540M) in the APOB gene that were present in 55 members from 18 ADH families (60%).
|
17964958 |
2007 |
|
rs368278927
|
|
|
0.010 |
GeneticVariation |
BEFREE |
On the other hand, we identified six previously reported LDLR gene mutations (C107Y, D69N, R385W, W462X, G170X, V408M), two novel LDLR gene mutations (FsG631 and splice junction mutation of intron 10), and one known mutation (R3500W) and one novel missense mutation (T3540M) in the APOB gene that were present in 55 members from 18 ADH families (60%).
|
17964958 |
2007 |
|
rs397514729
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two monozygotic twin sisters (T1 and T2) with autosomal dominant hypocalcemia (ADH) due to a nonconservative activating CaSR mutation in the extracellular domain (K29E) were studied.
|
17048213 |
2006 |
|
rs104893708
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This article describes a patient with ADH due to a gain-of-function mutation in the CaSR, L125P, associated with a Bartter-like syndrome that is characterized by a decrease in distal tubular fractional chloride reabsorption rate and negative NaCl balance with secondary hyperaldosteronism and hypokalemia.
|
12191970 |
2002 |
|
rs104893710
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We conclude that the Ser(820)Phe mutation in the CaR caused ADH in this family.
|
12050233 |
2002 |
|
rs1394440820
|
|
|
0.010 |
GeneticVariation |
BEFREE |
All mutant receptors were expressed at a similar level to that of the wild type; however, whereas mutants R220W and A835T (the ADH mutant) were fully glycosylated and were visualized on the cell surface, glycosylation of mutants G549R and C850-851 ins/fs was impaired, resulting in reduced cell surface staining.
|
11889203 |
2002 |
|
rs1482119762
|
|
|
0.010 |
GeneticVariation |
BEFREE |
All mutant receptors were expressed at a similar level to that of the wild type; however, whereas mutants R220W and A835T (the ADH mutant) were fully glycosylated and were visualized on the cell surface, glycosylation of mutants G549R and C850-851 ins/fs was impaired, resulting in reduced cell surface staining.
|
11889203 |
2002 |