Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our data highlight the wide spectrum of genetic variation that can be seen in PHEX, FGF23 and DMP1 when screening a large cohort with hypophosphatemic rickets.
|
21050253 |
2011 |
Familial Hypophosphatemic Rickets
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Overexpression of human PHEX under the human beta-actin promoter in Hyp mice rescued the bone phenotype almost completely, but did not affect phosphate homeostasis, suggesting that different, possibly independent, pathophysiological mechanisms contribute to hyperphosphaturia and bone abnormalities in XLH.
|
15940367 |
2005 |
Familial Hypophosphatemic Rickets
|
0.500 |
Biomarker
|
disease |
CTD_human |
Primary cultures of renal epithelial cells from X-linked hypophosphatemic (Hyp) mice express defects in phosphate transport and vitamin D metabolism.
|
3414685 |
1988 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recently, the expression of the PHEX gene in hypertrophied parathyroid glands of a patient with XLH has been reported.
|
15015068 |
2004 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets.
|
27840894 |
2016 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The PHEX mutations were detected in 6 familial and 3 sporadic hypophosphatemic rickets/osteomalacia.
|
24836714 |
2014 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The most common form of HR is X-linked dominant HR (XLHR) which is caused by inactivating mutations in the PHEX gene.
|
21902834 |
2011 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The most common heritable disorder of renal phosphate wasting, X-linked hypophosphataemia (XLH), was discovered to be caused by inactivating mutations in the phosphate regulating gene with homology to endopeptidases on the X-chromosome (PHEX) gene in 1995.
|
30207609 |
2019 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The study shows that PHEX mutation is a common cause of either familial or sporadic hypophosphatemic rickets in Turkish population.Gene dosage effect is not observed.
|
23079138 |
2013 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These data extend the spectrum of mutations in the PHEX gene in Han Chinese and confirm variability for XLH in Taiwan.
|
21293852 |
2011 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This leads to the question whether current screening methods for mutations in the PHEX gene are inadequate or whether there is a substantial number of patients with other genetic causes of hypophosphatemic rickets.
|
22577109 |
2012 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We investigated PHEX mutation in a sporadic Turkish girl with hypophosphatemic rickets.
|
25153221 |
2015 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report 3 cases of hypophosphatemic rickets with genetic mutational analysis of the PHEX gene.
|
21553362 |
2011 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
WES revealed a novel PHEX splice acceptor mutation in intron 9 (c.1080-3C>A) in a family with 3 affected individuals with HR.
|
26107949 |
2015 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
X-linked dominant hypophosphatemic rickets (XLHR) is the most prevalent genetic type of hypophosphatemic rickets and is caused by germ line mutations in the PHEX-gene.
|
23466123 |
2013 |