|
Vitamin D-Dependent Rickets, Type 2A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia.
|
28698609 |
2017 |
|
Vitamin D-Dependent Rickets, Type 2A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets.
|
17970811 |
2008 |
|
Vitamin D-Dependent Rickets, Type 2A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness.
|
9005998 |
1997 |
|
Vitamin D-Dependent Rickets, Type 2A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets.
|
8675579 |
1996 |
|
Vitamin D-Dependent Rickets, Type 2A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Vitamin D receptors from patients with resistance to 1,25-dihydroxyvitamin D3: point mutations confer reduced transactivation in response to ligand and impaired interaction with the retinoid X receptor heterodimeric partner.
|
8961271 |
1996 |
|
Vitamin D-Dependent Rickets, Type 2A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hereditary 1 alpha,25-dihydroxyvitamin D-resistant rickets resulting from a mutation in the vitamin D receptor deoxyribonucleic acid-binding domain.
|
8106618 |
1994 |
|
Vitamin D-Dependent Rickets, Type 2A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two mutations causing vitamin D resistant rickets: modelling on the basis of steroid hormone receptor DNA-binding domain crystal structures.
|
7828346 |
1994 |
|
Vitamin D-Dependent Rickets, Type 2A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D3.
|
8392085 |
1993 |
|
Vitamin D-Dependent Rickets, Type 2A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A new point mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor in a kindred with hereditary 1,25-dihydroxyvitamin D-resistant rickets.
|
8381803 |
1993 |
|
Vitamin D-Dependent Rickets, Type 2A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II: utility of single-strand conformation polymorphism analysis for heterozygous carrier detection.
|
1652893 |
1991 |
|
Vitamin D-Dependent Rickets, Type 2A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A unique point mutation in the human vitamin D receptor chromosomal gene confers hereditary resistance to 1,25-dihydroxyvitamin D3.
|
2177843 |
1990 |
|
Vitamin D-Dependent Rickets, Type 2A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets.
|
2849209 |
1988 |
|
Vitamin D-Dependent Rickets, Type 2A
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Rickets
|
|
0.020 |
GeneticVariation
|
BEFREE |
Additionally, the binding affinity of the vitamin D analogs for the wild-type and the rickets-associated mutant R274L of VDR was evaluated.
|
30268505 |
2018 |
|
Rickets
|
|
0.020 |
GeneticVariation
|
BEFREE |
Using the reported VDR-1,25-dihydroxy vitamin D3 (1,25(OH)2D3) cocrystal structure, three 1,25(OH)2D3 analogues were designed to uniquely complement the rickets associated mutant VDR(Arg274-->Leu).
|
12599478 |
2002 |
|
Vitamin D-resistant rickets
|
|
0.010 |
GeneticVariation
|
BEFREE |
Novel screening system for high-affinity ligand of heredity vitamin D-resistant rickets-associated vitamin D receptor mutant R274L using bioluminescent sensor.
|
27864003 |
2017 |
|
Hypophosphatemic Rickets, X-Linked Dominant
|
|
0.010 |
GeneticVariation
|
BEFREE |
Novel screening system for high-affinity ligand of heredity vitamin D-resistant rickets-associated vitamin D receptor mutant R274L using bioluminescent sensor.
|
27864003 |
2017 |
|
Familial Hypophosphatemic Rickets
|
|
0.010 |
GeneticVariation
|
BEFREE |
These compounds might be potential therapeutics for HVDRR caused by the mutant VDR (R274L).
|
27864003 |
2017 |