Recombinant Human Phosphate-regulating neutral endopeptidase (PHEX)

1. Nonsense mutation (p.E145*) in PHEX is involved in X-linked dominant hypophosphatemic rickets. PMID: 29858904
2. Two novel variants of the PHEX gene were identified in two unrelated families with Xlinked dominant hypophosphatemic rickets by directly sequencing all 22 exon regions and intron/exon boundaries of the PHEX gene. PMID: 29393334
3. genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3 PMID: 29505567
4. PHEX mutations are still the most common genetic defects in the Turkish population and were found in 12 of 14 patients with hypophosphataemic rickets PMID: 28383812
5. dentification of the PHEX mutation by whole exome sequencing has facilitated genetic counseling and prenatal diagnosis for the family affected with hypophosphatemic rickets PMID: 28981921
6. Expression and inactivation of osteopontin-degrading PHEX enzyme in squamous cell carcinoma PMID: 27270332
7. The novel splicing mutation IVS21+2T>G of the PHEX geneis associated with X-linked hypophosphatemia. PMID: 28397222
8. c.931dupC and IVS14+1G>A are two novel mutations of the PHEX gene and might be the new pathogenic mutations of X-linked hypophosphatemic rickets PMID: 28506344
9. Herpes simplex virus 1 blocks MAVS-Pex mediated early interferon-stimulated gene activation through VP16 to dampen the immediate early antiviral innate immunity signaling from peroxisomes. PMID: 28222744
10. Mutation in the PHEX gene is associated with type 1 diabetes. PMID: 26894575
11. the findings of this study provide new insight into the spectrum of PHEX mutations and provide potential evidence of a critical domain in PHEX protein. PMID: 27840894
12. This report that mutations in PHEX are the most frequent cause of hypophosphatemic rickets PMID: 26051471
13. Downregulation of PHEX may constitute an important early component of bone loss and joint damage in leprosy PMID: 26362198
14. A new splice acceptor mutation was seen in intron 9 (c.1080-3C>A) in a family with hypophosphatemic rickets. This transcript skipped exons 10-14. A sporadic case had a new exon 11 mutation (c.1211_1215delACAAAinsTTTACAT, p.Asp404Valfs*5, de novo). PMID: 26107949
15. Two novel mutations were detected unrelated families with hypophosphatemic rickets. PMID: 24836714
16. PHEX c.*231A > G can masquerade as sporadic or X-linked recessive HR. PMID: 25042154
17. A novel de novo nonsense mutation of the PHEX gene has been identified in Chinese family expanding the mutation spectrum of PHEX leading to X-linked hypophosphatemic rickets. PMID: 25839938
18. exon 22 is the mutation hot spot and missense mutation is the most common type of mutation in the PHEX gene in Chinese X-link dominate hypophosphatemic rickets (XLH) patients PMID: 24857004
19. 15 PHEX mutations have been reported in Chinese populations with X-linked hypophosphatemic rickets PMID: 23813354
20. The c.732+1G>T mutation of PHEX is associated with hypophosphatasia pedigree. PMID: 24078575
21. study shows that PHEX mutation is a common cause of either familial or sporadic hypophosphatemic rickets in Turkish population PMID: 23079138
22. Mutations in PHEX and DMP1 play a role in causing hypophosphatemic rickets. PMID: 22695891
23. PHEX gene mutations were responsible for X-linked hypophosphatemia in these Chinese families. PMID: 22713460
24. Analysis of PHEX mRNA from peripheral blood would be appropriate for the first screening step in determining the etiology of FGF23-related hypophosphatemic rickets. PMID: 22577109
25. PTHrP(1-34)-mediated repression of the PHEX gene in osteoblastic cells involves the transcriptional repressor E4BP4. PMID: 21826652
26. Hypophosphatemic rickets (HR) is a rare hereditary disease in which dental problems in terms of spontaneous periapical infections are frequently reported PMID: 21902707
27. tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type in X-linked dominant Hypophosphatemic Rickets PMID: 21902834
28. Novel PHEX nonsense mutation in a patient with X-linked hypophosphatemic rickets and review of current therapeutic regimens. PMID: 21553362
29. Three novel mutations in the PHEX gene in Chinese subjects with hypophosphatemic rickets extends genotypic variability. PMID: 21293852
30. Data show the wide spectrum of genetic variation that can be seen in PHEX, FGF23 and DMP1 when screening a large cohort with hypophosphatemic rickets. PMID: 21050253
31. M. leprae is capable of inhibiting PHEX expression in osteoblasts in a very similar manner as that observed in Schwann cells, indicating that the bacillus modulates PHEX in both osteogenic and non-osteogenic cells. PMID: 20835608
32. Case Report: describe a novel nonsense mutation in exon 3 of the PHEX gene (Glu(96)X (c.286G>T) causing X linked hypophosphatemic rickets in a mother and daughter of Indian ancestry. PMID: 20664300
33. Cooperative role of NF-{kappa}B and poly(ADP-ribose) polymerase 1 (PARP-1) in the TNF-induced inhibition of PHEX expression in osteoblasts. PMID: 20817730
34. fibroblast growth factor-23 and matrix extracellular phosphoglycoprotein sequences are potential PHEX substrates PMID: 12678920
35. There is evidence for a hormone/enzyme/extracellular matrix protein cascade involving fibroblastic growth factor 23 (FGF23), a phosphate-regulating gene with homologies to (PHEX) and (MEPE)--REVIEW PMID: 12791601
36. regulates fgf23 expression as part of a potential hormonal axis between bone and kidney that controls systemic phosphate homeostasis and mineralization PMID: 12874285
37. Anthropometric characteristics arising from mutations of PHEX were evaluated. PMID: 15057978
38. a cis-element is required for PHEX gene transcription that participates in negative feedback control of PHEX expression and thereby modulates the actions of phosphatonin PMID: 15337762
39. In our present study, we found that suppression of PHEX expression by PHEX antisense in human osteoblast cells caused an increase in cathepsin D expression at protein, but not mRNA, levels. PMID: 15896324
40. Overexpression of human PHEX under the human beta-actin promoter in hypophosphatemia mice rescued the bone phenotype almost completely, but did not affect phosphate homeostasis. PMID: 15940367
41. seven PHEX mutations were detected in X-linked hypophosphatemic rickets patients: two missense mutations, two nonsense mutations, and three short deletions; no functional FGF23 mutation was detected in any patient PMID: 16055933
42. XLH is caused by mutations in the PHEX (phosphate regulating gene with homology to endopeptidases) gene, which is located on Xp22.1. PMID: 16437029
43. Our data support previous findings and therefore contribute to the decipherment of the pathogenetic pathways of XLH. PMID: 17406123
44. The results suggest that PHEX gene mutations were responsible for XLH in these patients and these mutations may contribute to a higher serum fibroblast growth factor 23 level. PMID: 18046499
45. Skeletal disease tended to be more severe in the group with a mutation in the C-terminal half of the PHEX gene, but no genotype-phenotype correlation was detected in other comparisons. PMID: 18162710
46. These data provide evidence that aberrant Phex function in osteoblasts and/or osteocytes alone is sufficient to underlie the hyp-mouse phenotype. PMID: 18172553
47. mRNA of PHEX involved in the pathogenesis of hypophosphataemic rickets is highly expressed in cells of the osteoblasts/osteocyte lineage. PMID: 18214537
48. Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX gene. PMID: 18252791
49. U(2)OS cells transfected with wild-type TNAP and polymorphism TNAP cDNA showed PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome) induction as in SaOS-2 cells. PMID: 18455459
50. Data indicate that there is no single predominant PHEX mutation responsible for X-linked hypophosphatemic rickets. PMID: 18625346

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HGNC: 8918

OMIM: 300550

KEGG: hsa:5251

STRING: 9606.ENSP00000368682

UniGene: Hs.495834