Rickets, X-Linked Hypophosphatemic
|
0.600 |
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 |
Rickets, X-Linked Hypophosphatemic
|
0.600 |
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 |
Rickets, X-Linked Hypophosphatemic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Key inclusion criteria were age 1-4 years at the time of informed consent; fasting serum phosphorus concentration of less than 0·97 mmol/L (3·0 mg/dL); serum creatinine 8·8-35·4 μmol/L (0·1-0·4 mg/dL); radiographic evidence of rickets (at least five participants were required to have a Thacher Rickets Severity Score of ≥1·5 at the knee); and a confirmed PHEX mutation or a variant of unknown significance in the patient or direct relative also affected with X-linked hypophosphataemia.
|
30638856 |
2019 |
Rickets, X-Linked Hypophosphatemic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Identification of a p.Trp403* nonsense variant in PHEX causing X-linked hypophosphatemia by inhibiting p38 MAPK signaling.
|
30920082 |
2019 |
Rickets, X-Linked Hypophosphatemic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
X‑linked hypophosphatemic rickets (XLHR; OMIM 307800) is an X‑linked dominant disorder caused by mutations in the phosphate‑regulating neutral endopeptidase homolog X‑linked (PHEX) gene, which is located at Xp22.11.
|
29393334 |
2018 |
Rickets, X-Linked Hypophosphatemic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Vibrational spectroscopic analysis of hydroxyapatite in HYP mice and individuals with X-linked hypophosphatemia.
|
30719271 |
2018 |
Rickets, X-Linked Hypophosphatemic
|
0.600 |
Biomarker
|
disease |
MGD |
The elevation of circulating fibroblast growth factor 23 without kidney disease does not increase cardiovascular disease risk.
|
29735309 |
2018 |
Rickets, X-Linked Hypophosphatemic
|
0.600 |
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 |
Rickets, X-Linked Hypophosphatemic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Fibroblast growth factor 23 (FGF23) plays a crucial role in renal phosphate regulation, exemplified by the causal role of PHEX and DMP1 mutations in X-linked hypophosphatemic rickets and autosomal recessive rickets type 1, respectively.
|
23325605 |
2013 |
Rickets, X-Linked Hypophosphatemic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
PHEX gene mutation in a Chinese family with six cases of X-linked hypophosphatemic rickets.
|
23813354 |
2013 |
Rickets, X-Linked Hypophosphatemic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
X-linked hypophosphatemic rickets is caused by mutations in PHEX.
|
23533226 |
2013 |
Rickets, X-Linked Hypophosphatemic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
X-linked hypophosphatemic rickets (XLHR) caused by mutations in the PHEX gene is considered to be the most frequent cause of fibroblast growth factor 23 (FGF23)-related congenital hypophosphatemic rickets.
|
22577109 |
2012 |
Rickets, X-Linked Hypophosphatemic
|
0.600 |
Biomarker
|
disease |
MGD |
New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis.
|
22527485 |
2012 |
Rickets, X-Linked Hypophosphatemic
|
0.600 |
Biomarker
|
disease |
MGD |
A novel Phex mutation in a new mouse model of hypophosphatemic rickets.
|
22573557 |
2012 |
Rickets, X-Linked Hypophosphatemic
|
0.600 |
Biomarker
|
disease |
MGD |
X-linked hypophosphatemia is the most common of the phosphate-wasting disorders mediated by elevated fibroblast growth factor 23 (FGF23) and occurs as a consequence of inactivating mutations of the PHEX gene product.
|
23038738 |
2012 |
Rickets, X-Linked Hypophosphatemic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Novel PHEX nonsense mutation in a patient with X-linked hypophosphatemic rickets and review of current therapeutic regimens.
|
21553362 |
2011 |
Rickets, X-Linked Hypophosphatemic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the phosphate-regulating endopeptidase homolog, X-linked, gene (PHEX), which encodes a zinc-dependent endopeptidase that is involved in bone mineralization and renal phosphate reabsorption, cause the most common form of hypophosphatemic rickets, X-linked hypophosphatemic rickets (XLH).
|
21293852 |
2011 |
Rickets, X-Linked Hypophosphatemic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Inactivating mutations of PHEX cause X-linked hypophosphatemia and result in increased circulating fibroblast growth factor 23 (FGF23).
|
19952276 |
2010 |
Rickets, X-Linked Hypophosphatemic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Novel PHEX gene mutation associated with X linked hypophosphatemic rickets.
|
20664300 |
2010 |
Rickets, X-Linked Hypophosphatemic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Prenatal diagnosis for a novel splice mutation of PHEX gene in a large Han Chinese family affected with X-linked hypophosphatemic rickets.
|
20578943 |
2010 |
Rickets, X-Linked Hypophosphatemic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets.
|
19513579 |
2009 |
Rickets, X-Linked Hypophosphatemic
|
0.600 |
Biomarker
|
disease |
CTD_human |
A case of X-linked hypophosphatemic rickets: complications and the therapeutic use of cinacalcet.
|
18775977 |
2008 |
Rickets, X-Linked Hypophosphatemic
|
0.600 |
Biomarker
|
disease |
MGD |
A search for such a model led us to the Phex Hyp-Duk mouse, a mutant allele of the Phex gene causing X-linked hypophosphatemic rickets.
|
18289812 |
2008 |
Rickets, X-Linked Hypophosphatemic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX gene.
|
18252791 |
2008 |
Rickets, X-Linked Hypophosphatemic
|
0.600 |
Biomarker
|
disease |
MGD |
A novel Phex mutation with defective glycosylation causes hypophosphatemia and rickets in mice.
|
17710565 |
2008 |