|
rs567349821
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We successfully generated the first large animal model of a rare human bone disease, hypophosphatasia (HPP) using CRISPR/Cas9 to introduce a single point mutation in the tissue nonspecific alkaline phosphatase (TNSALP) gene (ALPL) (1077 C > G) in sheep.
|
30446691 |
2018 |
|
rs1044498
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, association of K121Q (rs1044498) polymorphism of the ENPP1 gene with T2DM and bone disorders is evaluated.
|
28942038 |
2017 |
|
rs1982073
|
|
|
0.010 |
GeneticVariation |
BEFREE |
According to the sample size-stratified analysis, subjects with the rs1982073 C>T polymorphism in the allele model were more likely to develop the three bone diseases in both the small and large sample size groups, and only in the large sample size under the dominant model.
|
25501632 |
2016 |
|
rs397514672
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report an infant with severe OI born following a twin pregnancy in whom the bone disease is caused by a heterozygous pathogenic mutation, c.4160C >T, p.(Ala1387Val) located in the C-propeptide region of COL1A1.
|
27549894 |
2016 |
|
rs104893941
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we show that mice with a proline to leucine mutation at codon 394 of mouse sqstm1 (P394L), equivalent to the P392L SQSTM1 mutation in humans, develop a bone disorder with remarkable similarity to PDB.
|
21515589 |
2011 |
|
rs758272654
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The apparently contradictory results in women and men and the finding that the GNAS1 T393C genotype is an independent factor for time to aseptic loosening in male patients assigned this polymorphism as an interesting target for further investigations in bone diseases.
|
18634020 |
2008 |
|
rs72656351
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases.
|
11826020 |
2002 |
|
rs1289324472
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Patients presenting as children have an excess of compound heterozygotes of N370S and other mutations, such as 84GG, 1448C (L444P) and IVS2 + 1 in whom bone disease is common.
|
10087987 |
1998 |
|
rs421016
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Patients presenting as children have an excess of compound heterozygotes of N370S and other mutations, such as 84GG, 1448C (L444P) and IVS2 + 1 in whom bone disease is common.
|
10087987 |
1998 |
|
rs76763715
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Patients presenting as children have an excess of compound heterozygotes of N370S and other mutations, such as 84GG, 1448C (L444P) and IVS2 + 1 in whom bone disease is common.
|
10087987 |
1998 |