|
Hypophosphatemic Rickets, X-Linked Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
X-linked hypophosphatemic rickets (XLHR) is the most common form of inherited rickets caused by pathogenic variants of PHEX gene with an X-linked dominant inheritance pattern.
|
31658436 |
2020 |
|
Hypophosphatemic Rickets, X-Linked Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Functional analysis of 22 splice-site mutations in the PHEX, the causative gene in X-linked dominant hypophosphatemic rickets.
|
31102713 |
2019 |
|
Hypophosphatemic Rickets, X-Linked Dominant
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Nephrocalcinosis and Nephrolithiasis in X-Linked Hypophosphatemic Rickets: Diagnostic Imaging and Risk Factors.
|
31065622 |
2019 |
|
Hypophosphatemic Rickets, X-Linked Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
X-linked hypophosphatemia (XLH), due to a PHEX gene mutation, is the most common genetic form of rickets and osteomalacia.
|
30711691 |
2019 |
|
Hypophosphatemic Rickets, X-Linked Dominant
|
1.000 |
Biomarker
|
disease |
BEFREE |
This mutation can make the PHEX protein become unstable and decay rapidly, which results in familial XLHR.
|
31537998 |
2019 |
|
Hypophosphatemic Rickets, X-Linked Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
X-linked Hypophosphatemia (XLH) is caused by loss of function mutations in the PHEX gene.
|
30682568 |
2019 |
|
Hypophosphatemic Rickets, X-Linked Dominant
|
1.000 |
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 |
|
Hypophosphatemic Rickets, X-Linked Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The role of FGF23 in the pathophysiology of XLH is here reviewed by describing what is known about phenotypes associated with various PHEX mutations, animal models of XLH, and non-nutritional diseases of hypophosphatemia, and by presenting molecular pathways that have been proposed to contribute to manifestations of XLH.
|
30808384 |
2019 |
|
Hypophosphatemic Rickets, X-Linked Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a nonsense variant in exon 11 of PHEX (c.1209G>A p.Trp403*) cosegregating with XLH in a Chinese family with a LOD score of 2.70.
|
30920082 |
2019 |
|
Hypophosphatemic Rickets, X-Linked Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
X-linked hypophosphataemic rickets (XLHR) is a genetic disorder resulting from a genetic mutation in the PHEX gene.
|
28440087 |
2019 |
|
Hypophosphatemic Rickets, X-Linked Dominant
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
|
Hypophosphatemic Rickets, X-Linked Dominant
|
1.000 |
Biomarker
|
disease |
MGD |
The elevation of circulating fibroblast growth factor 23 without kidney disease does not increase cardiovascular disease risk.
|
29735309 |
2018 |
|
Hypophosphatemic Rickets, X-Linked Dominant
|
1.000 |
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 |
|
Hypophosphatemic Rickets, X-Linked Dominant
|
1.000 |
Biomarker
|
disease |
BEFREE |
Using Raman spectroscopy, the carbonate (CO<sub>3</sub><sup>2-</sup>) to phosphate (PO<sub>4</sub><sup>3-</sup>) ion ratio was measured in HYP and wild-type mice and in primary and permanent teeth from XLH individuals and unaffected controls.
|
30719271 |
2018 |
|
Hypophosphatemic Rickets, X-Linked Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
X-linked hypophosphatemia (XLH) is a skeletal disorder arising from mutations in the PHEX gene, transmitted in most cases as an X-linked dominant trait.
|
29745817 |
2018 |
|
Hypophosphatemic Rickets, X-Linked Dominant
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
These results are consistent with impaired PHEX activity having local ECM effects in XLH.
|
28880715 |
2018 |
|
Hypophosphatemic Rickets, X-Linked Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two novel variants of the PHEX gene in patients with X‑linked dominant hypophosphatemic rickets and prenatal diagnosis for fetuses in these families.
|
29393334 |
2018 |
|
Hypophosphatemic Rickets, X-Linked Dominant
|
1.000 |
Biomarker
|
disease |
BEFREE |
PHEX deficiency in XLH/Hyp dramatically alters the periodontal phenotype, with hypoplasia of tooth root cementum associated with a lack of periodontal ligament attachment and the presence of an immature apatitic mineral phase of all periodontal mineralized tissues.
|
28764922 |
2017 |
|
Hypophosphatemic Rickets, X-Linked Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Seven young patients with X-linked hypophosphatemia (XLH, having inactivating PHEX mutations) were discovered to accumulate osteopontin (OPN) at the sites of defective bone mineralization near osteocytes - the so-called hallmark periosteocytic (lacunar) "halos" of XLH.
|
27884786 |
2017 |
|
Hypophosphatemic Rickets, X-Linked Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
X-linked hypophosphatemia (XLH) caused by mutations in the Phex gene is the most common human inherited phosphate wasting disorder characterized by enhanced synthesis of fibroblast growth factor 23 (FGF23) in bone, renal phosphate wasting, 1,25(OH)<sub>2</sub>D<sub>3</sub> (1,25D) deficiency, rickets and osteomalacia.
|
28728941 |
2017 |
|
Hypophosphatemic Rickets, X-Linked Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
19 patients with XLHR and a mutation in the PHEX gene.
|
28822957 |
2017 |
|
Hypophosphatemic Rickets, X-Linked Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
X-Linked hypophosphatemia (XLH) is the most common form of hereditary rickets caused by loss-of function mutations in the PHEX gene.
|
28130634 |
2017 |
|
Hypophosphatemic Rickets, X-Linked Dominant
|
1.000 |
Biomarker
|
disease |
BEFREE |
In summary, for the first time, we have successfully obtained PHEX KO rabbits and recapitulated human XLH using the CRISPR/Cas9 system.
|
27126636 |
2016 |
|
Hypophosphatemic Rickets, X-Linked Dominant
|
1.000 |
Biomarker
|
disease |
BEFREE |
PHEX, located at Xp22.1-p22.2, is the gene causing XLHR.
|
26559751 |
2016 |
|
Hypophosphatemic Rickets, X-Linked Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A compilation of XLH mutation hotspots based on the PHEX gene database and mutations found in the FGF23, DMP1, and ENPP1 genes are also made available in this review.
|
25894638 |
2015 |