Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Analysis of 2 novel mutations of PHEX gene inducing X-linked dominant hypophosphatemia rickets in 2 families: Two case reports.
|
30075510 |
2018 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Hence, PHEX c.*231A > G can masquerade as sporadic or X-linked recessive HR.
|
25042154 |
2015 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A review of medical records and mutational analyses of the PHEX and FGF23 genes were performed on 17 unrelated Korean children with HR.
|
16055933 |
2005 |
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 |
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 |
Mutational analysis of the PHEX gene in 15 unrelated Korean patients with hypophosphatemic rickets revealed eight mutations, including five novel mutations, in nine patients: two nonsense mutations, two missense mutations, one insertion, and three splicing acceptor/donor site mutations.
|
18162710 |
2007 |
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 |
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 |
Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets.
|
10737991 |
2000 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In hypophosphatemic rickets, there are both inherited and acquired forms, where X-linked dominant hypophosphatemic rickets (XLH) is the most prevalent genetic form and caused by mutations in the phosphate-regulating endopeptidase (PHEX) gene.
|
18775977 |
2008 |
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 |
PHEX mutations have been observed in XLH patients, and we have undertaken studies to characterize such mutations in 46 unrelated XLH kindreds and 22 unrelated patients with nonfamilial XLH by single stranded conformational polymorphism and DNA sequence analysis.
|
9768674 |
1998 |
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 |
Hypophosphatemic rickets is caused by renal phosphate wasting that is most commonly due to X-linked dominant mutations in PHEX.
|
31392510 |
2019 |
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 |
GeneticVariation
|
disease |
BEFREE |
XLH is associated with a large number of private mutations; 37 different mutations in the PHEX gene were identified in this cohort, 14 of which have not been previously reported.
|
29460029 |
2018 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic rickets.
|
25839938 |
2015 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Among these diseases, X-linked hypophosphatemia (XLH), which is caused by inactivating mutations in the phosphate-regulating endopeptidase homolog, X-linked (PHEX) gene, is the most prevalent form of genetic FGF23-related hypophosphatemic rickets.
|
29381780 |
2018 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Novel PHEX mutation associated with hypophosphatemic rickets.
|
17406123 |
2007 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
XLH is caused by inactivating mutations in PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome).
|
18625346 |
2008 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Hypophosphataemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in PHEX, FGF23, DMP1, ENPP1, CLCN5 or SLC34A3.
|
28383812 |
2017 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A de novo mosaic mutation of PHEX in a boy with hypophosphatemic rickets.
|
26559751 |
2016 |
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 |
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 |
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 |