|
Familial Hypophosphatemic Rickets
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Homozygous or heterozygous mutations in the vitamin D receptor (<i>VDR</i>) gene leading to complete or partial target organ resistance to the action of 1α, 25-dihydroxyvitamin D3 (the active form of vitamin D) are responsible for HVDRR.
|
30555810 |
2018 |
|
Familial Hypophosphatemic Rickets
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Inactivating mutations in the VDR gene cause hereditary vitamin D-resistant rickets (HVDRR), a rare disorder characterized by an early onset of rickets, growth retardation, skeletal deformities, hypocalcemia, hypophosphatemia and secondary hyperparathyroidism, and in some cases alopecia.
|
29949513 |
2018 |
|
Familial Hypophosphatemic Rickets
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Without affecting the expression, conformation, nuclear location of VDR or heteridimerization with RXR, VDR-R343H impairs the transactivation activity of VDR on downstream transcription, accounting for HVDRR features with alopecia.
|
29127362 |
2017 |
|
Familial Hypophosphatemic Rickets
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) gene.
|
28301319 |
2017 |
|
Familial Hypophosphatemic Rickets
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder characterized by the early onset of rickets and is caused by mutations in the vitamin D receptor (VDR) gene.Some HVDRR patients also have alopecia.
|
28013309 |
2017 |
|
Familial Hypophosphatemic Rickets
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These compounds might be potential therapeutics for HVDRR caused by the mutant VDR (R274L).
|
27864003 |
2017 |
|
Familial Hypophosphatemic Rickets
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese.
|
26422470 |
2015 |
|
Familial Hypophosphatemic Rickets
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Hereditary vitamin D-resistant rickets (HVDRR) is a rare genetic disorder caused by mutations in the vitamin D receptor (VDR) gene, which result in end-organ resistance to 1,25-(OH)2D3.
|
25573344 |
2015 |
|
Familial Hypophosphatemic Rickets
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Patient 2 is a 37-year-old female with milder HVDRR and alopecia due to a homozygous p.Gly319Val mutation in the VDR ligand-binding domain.
|
25708797 |
2015 |
|
Familial Hypophosphatemic Rickets
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
After a poor response to standard treatment, genetic testing confirmed a c.147-2A>T novel mutation in the VDR gene consistent with HVDRR.
|
24917549 |
2015 |
|
Familial Hypophosphatemic Rickets
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These 4 unique mutations add to the previous 45 mutations identified in the VDR gene in patients with HVDRR.
|
24246681 |
2014 |
|
Familial Hypophosphatemic Rickets
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To study the vitamin D receptor (VDR) gene in five Egyptian patients with severe rickets and the clinical features of hereditary vitamin D-resistant rickets, including hypocalcemia, hypophosphatemia, total alopecia, and elevated serum levels of 1,25-dihydroxyvitamin D.
|
24859502 |
2014 |
|
Familial Hypophosphatemic Rickets
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A mutated vitamin D receptor in hereditary vitamin D-resistant rickets prevents induction of bronchial hyperreactivity and inflammation.
|
24885630 |
2014 |
|
Familial Hypophosphatemic Rickets
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel nonsense mutation in the ligand-binding domain of the vitamin d receptor gene and clinical description of two greek patients with hereditary vitamin d-resistant rickets and alopecia.
|
25060608 |
2014 |
|
Familial Hypophosphatemic Rickets
|
0.400 |
Biomarker
|
disease |
BEFREE |
The aim of the study was to investigate the role of vitamin D and the vitamin D receptor (VDR) in innate and adaptive immune responses in monocytes and lymphocytes from HVDRR patients.
|
23482605 |
2013 |
|
Familial Hypophosphatemic Rickets
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The mutation rendered the VDR non-functional, leading to HVDRR, with absence of alopecia.
|
23026218 |
2013 |
|
Familial Hypophosphatemic Rickets
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Photoprotection remained in hereditary vitamin D-resistant rickets fibroblasts expressing a VDR with a defective DNA-binding domain or a mutation in helix H1 of the classical ligand-binding domain, both defects resulting in a failure to mediate genomic responses, implicating nongenomic responses for photoprotection.
|
22322599 |
2012 |
|
Familial Hypophosphatemic Rickets
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The observation that mice with genetic disruption of the 1α-hydroxylase gene or of the VDR gene have an overstimulated RAS and consequently develop high blood pressure and cardiac hypertrophy raised concern about potential risks to the cardiovascular system in HVDRR patients.
|
23128575 |
2012 |
|
Familial Hypophosphatemic Rickets
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Report of two unrelated patients with hereditary vitamin D resistant rickets due to the same novel mutation in the vitamin D receptor.
|
22145479 |
2011 |
|
Familial Hypophosphatemic Rickets
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In this familial study, we concluded that the girl had compound heterozygous mutations in her VDR gene which caused HVDRR.
|
21860566 |
2011 |
|
Familial Hypophosphatemic Rickets
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Vitamin D dependent rickets type 2 (VDDR-II) is caused by a defect in the vitamin D receptor (VDR).
|
22145480 |
2011 |
|
Familial Hypophosphatemic Rickets
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We analyzed the VDR gene of a young girl who exhibited the clinical features of HVDRR without alopecia.
|
21812032 |
2011 |
|
Familial Hypophosphatemic Rickets
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Hereditary Vitamin D Resistant Rickets (HVDRR) is a rare disease caused by mutations in the vitamin D receptor (VDR).
|
21693169 |
2011 |
|
Familial Hypophosphatemic Rickets
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Presence of a deletion mutation (c.716delA) in the ligand binding domain of the vitamin D receptor in an Indian patient with vitamin D-dependent rickets type II.
|
19921089 |
2010 |
|
Familial Hypophosphatemic Rickets
|
0.400 |
Biomarker
|
disease |
BEFREE |
In this study, we examined the VDR from a young boy with clinical features of HVDRR including severe rickets, hypocalcemia, hypophosphatemia and partial alopecia.
|
19815438 |
2010 |