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Literature for peptidase M13.091: PHEX peptidase

Summary Gene structure Alignment Tree Sequences Sequence features Distribution Literature Substrates

(Topics flags: M Mutation, K Knockout, I Inhibitor, V Review. To select only the references relevant to a single topic, click the link above. See explanation.)

    2025
  1. Alzoebie,L., Li,D., Wang,X., Weber,D.R. and Levine,M.A.<br>Unusual PHEX variants implicate uncommon genetic mechanisms for X-linked hypophosphatemic rickets<br>JBMR Plus (2025) 9, ziae152-ziae152. PubMed  Europe PubMed DOI  PMC  EPMC
    2. 2024
  2. Fraga,G., Herreros,M.A., Pybus,M., Aza-Carmona,M., Pilco-Teran,M., Furlano,M., Garcia-Borau,M.J., Torra,R. and Ars,E.<br>A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the PHEX Gene<br>Genes (Basel) (2024) 15 PubMed  Europe PubMed DOI  PMC  EPMC
  3. Kamenicky,P., Briot,K., Munns,C.F. and Linglart,A.<br>X-linked hypophosphataemia<br>Lancet (2024) 404, 887-901. PubMed  Europe PubMed DOI
  4. Wu,H., Ying,H., Zhao,W., Sun,Y., Wang,Y., Chen,X., Li,G., Yao,Y., Xu,S., Li,T., Fang,L., Sun,X., Wang,N., Xu,J., Guan,Q., Xia,W., Wang,L., Gao,L., Zhao,J. and Xu,C.<br>Characterization of novel PHEX variants in X-linked hypophosphatemic rickets and genotype-PHEX activity correlation<br>J Clin Endocrinol Metab (2024) 109, 2242-2255. PubMed  Europe PubMed DOI
    5. 2023
  5. Grimbly,C., Ludwig,K., Wu,Z., Caluseriu,O., Rosolowsky,E., Alexander,R.T., Ward,L.M. and Rauch,F.<br>X-linked hypophosphatemia caused by a deep intronic variant in PHEX identified by PCR-based RNA analysis of urine-derived cells<br>Bone (2023) 176, 116839-116839. PubMed  Europe PubMed DOI
    6. 2022
  6. Donmez,B.O., Karagur,E.R., Donmez,A.C., Choi,J. and Akkus,O.<br>Calciumƒ_'dependent activation of PHEX, MEPE and DMP1 in osteocytes<br>Mol Med Rep (2022) 26 PubMed  Europe PubMed DOI  PMC  EPMC
    7. 2021
  7. Alikasifoglu,A., Unsal,Y., Gonc,E.N., Ozon,Z.A., Kandemir,N. and Alikasifoglu,M.<br>Long-term effect of conventional phosphate and calcitriol treatment on metabolic recovery and catch-up growth in children with PHEX mutation<br>J Pediatr Endocrinol Metab (2021) PubMed  Europe PubMed DOI
  8. Constantacos,C., Hunter,J.D., Walsh,E.T. and South,A.M.<br>Rare PHEX variant with insidious presentation leads to a delayed diagnosis of X-linked hypophosphatemia<br>BMJ Case Rep (2021) 14, e240336-e240336. PubMed  Europe PubMed DOI  PMC  EPMC
  9. Ishihara,Y., Ohata,Y., Takeyari,S., Kitaoka,T., Fujiwara,M., Nakano,Y., Yamamoto,K., Yamada,C., Yamamoto,K., Michigami,T., Mabe,H., Yamaguchi,T., Matsui,K., Tamada,I., Namba,N., Yamamoto,A., Etoh,J., Kawaguchi,A., Kosugi,R., Ozono,K. and Kubota,T.<br>Genotype-phenotype analysis, and assessment of the importance of the zinc-binding site in PHEX in Japanese patients with X-linked hypophosphatemic rickets using 3D structure modeling<br>Bone (2021) 153, 116135-116135. PubMed  Europe PubMed DOI
    10. 2020
  10. Maio,P., Mano,L., Rocha,S., Baptista,R.B., Francisco,T., Sousa,H., Freixo,J.P. and Abranches,M.<br>X-linked hypophosphatemic rickets: a new mutation<br>J Bras Nefrol (2020) PubMed  Europe PubMed DOI
  11. Minamizaki,T., Sakurai,K., Hayashi,I., Toshishige,M., Yoshioka,H., Kozai,K. and Yoshiko,Y.<br>Active sites of human MEPE-ASARM regulating bone matrix mineralization<br>Mol Cell Endocrinol (2020) 517, 110931-110931. PubMed  Europe PubMed DOI
  12. Yamamoto,A., Nakamura,T., Ohata,Y., Kubota,T. and Ozono,K.<br>Phenotypes of a family with XLH with a novel PHEX mutation<br>Hum Genome Var (2020) 7, 8-8. PubMed  Europe PubMed DOI  PMC  EPMC  M
    13. 2019
  13. Li,W., Tan,L., Li,X., Zhang,X., Wu,X., Chen,H., Hu,L., Wang,X., Luo,X., Wang,F., Xu,C., Chen,Q., Jin,R. and Wang,Q.K.<br>Identification of a p.Trp403* nonsense variant in PHEX causing X-linked hypophosphatemia by inhibiting p38 MAPK signaling<br>Hum Mutat (2019) 40, 879-885. PubMed  Europe PubMed DOI  M
    14. 2018
  14. Gao,Y., Wang,Z.M. and Li,X.L.<br>Analysis of 2 novel mutations of PHEX gene inducing X-linked dominant hypophosphatemia rickets in 2 families: two case reports<br>Medicine (Baltimore) (2018) 97, e11453-e11453. PubMed  Europe PubMed DOI  PMC  EPMC  M
  15. Liao,H., Zhu,H.M., Liu,H.Q., Li,L.P., Liu,S.L. and Wang,H.<br>Two novel variants of the PHEX gene in patients with Xlinked dominant hypophosphatemic rickets and prenatal diagnosis for fetuses in these families<br>Int J Mol Med (2018) 41, 2012-2020. PubMed  Europe PubMed DOI  M
  16. Yang,M., Kim,J., Yang,A., Jang,J., Jeon,T.Y., Cho,S.Y. and Jin,D.K.<br>A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets<br>Ann Pediatr Endocrinol Metab (2018) 23, 229-234. PubMed  Europe PubMed DOI  M
    17. 2017
  17. Goljanek-Whysall,K., Tridimas,A., McCormick,R., Russell,N.J., Sloman,M., Sorani,A., Fraser,W.D. and Hannan,F.M.<br>Identification of a novel loss-of-function PHEX mutation, Ala720Ser, in a sporadic case of adult-onset hypophosphatemic osteomalacia<br>Bone (2017) 106, 30-34. PubMed  Europe PubMed DOI  M
    18. 2016
  18. Li,S.S., Gu,J.M., Yu,W.J., He,J.W., Fu,W.Z. and Zhang,Z.L.<br>Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets<br>Int J Mol Med (2016) 38, 1703-1714. PubMed  Europe PubMed DOI  M
  19. Neves,R.L., Chiarantin,G.M., Nascimento,F.D., Pesquero,J.B., Nader,H.B., Tersariol,I.L., McKee,M.D., Carmona,A.K. and Barros,N.M.<br>Expression and inactivation of osteopontin-degrading PHEX enzyme in squamous cell carcinoma<br>Int J Biochem Cell Biol (2016) 77, 155-164. PubMed  Europe PubMed DOI
  20. Sui,T., Yuan,L., Liu,H., Chen,M., Deng,J., Wang,Y., Li,Z. and Lai,L.<br>CRISPR/Cas9-mediated mutation of PHEX in rabbit recapitulates human X-linked hypophosphatemia (XLH)<br>Hum Mol Genet (2016) 25, 2661-2671. PubMed  Europe PubMed DOI
    21. 2015
  21. Yuan,L., Wu,S., Xu,H., Xiao,J., Yang,Z., Xia,H., Liu,A., Hu,P., Lu,A., Chen,Y., Xu,F. and Deng,H.<br>Identification of a novel PHEX mutation in a Chinese family with X-linked hypophosphatemic rickets using exome sequencing<br>Biol Chem (2015) 396, 27-33. PubMed  Europe PubMed DOI  M
    22. 2014
  22. Kang,Y.E., Hong,J.H., Kim,J., Joung,K.H., Kim,H.J., Ku,B.J. and Kim,K.S.<br>A novel PHEX gene mutation in a patient with sporadic hypophosphatemic rickets<br>Endocrinol Metab (Seoul) (2014) 29, 195-201. PubMed  Europe PubMed DOI  PMC  EPMC  M
  23. Liu,S., Wei,M., Xiao,J., Wang,C.Y. and Qiu,Z.Q.<br>[Three PHEX gene mutations in Chinese subjects with hypophosphatemic rickets and literature review]<br>Zhongguo Dang Dai Er Ke Za Zhi (2014) 16, 518-523. PubMed  Europe PubMed DOI  M  V
    24. 2013
  24. Barros,N.M., Hoac,B., Neves,R.L., Addison,W.N., Assis,D.M., Murshed,M., Carmona,A.K. and McKee,M.D.<br>Proteolytic processing of osteopontin by PHEX and accumulation of osteopontin fragments in Hyp mouse bone, the murine model of X-linked hypophosphatemia<br>J Bone Miner Res (2013) 28, 688-699. PubMed  Europe PubMed DOI
    25. 2012
  25. Kang,Q.L., Xu,J., Zhang,Z., He,J.W., Lu,L.S., Fu,W.Z. and Zhang,Z.L.<br>Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets<br>Biochem Biophys Res Commun (2012) 423, 793-798. PubMed  Europe PubMed DOI  M
  26. Owen,C., Chen,F., Flenniken,A.M., Osborne,L.R., Ichikawa,S., Adamson,S.L., Rossant,J. and Aubin,J.E.<br>A novel Phex mutation in a new mouse model of hypophosphatemic rickets<br>J Cell Biochem (2012) 113, 2432-2441. PubMed  Europe PubMed DOI  M
  27. Rowe,P.S.<br>The chicken or the egg: PHEX, FGF23 and SIBLINGs unscrambled<br>Cell Biochem Funct (2012) 30, 355-375. PubMed  Europe PubMed DOI
  28. St-Louis,M. and Boileau,G.<br>PHEX endopeptidase<br>[ISSN:978-0-12-407744-7] (2012) 3, 638-641. DOI
    29. 2011
  29. David,V., Martin,A., Hedge,A.M., Drezner,M.K. and Rowe,P.S.<br>ASARM peptides: PHEX-dependent and -independent regulation of serum phosphate<br>Am J Physiol Renal Physiol (2011) 300, F783-F791. PubMed  Europe PubMed DOI  PMC  EPMC
  30. Moriyama,K., Hanai,A., Mekada,K., Yoshiki,A., Ogiwara,K., Kimura,A. and Takahashi,T.<br>Kbus/Idr, a mutant mouse strain with skeletal abnormalities and hypophosphatemia: Identification as an allele of 'Hyp'<br>J Biomed Sci (2011) 18, 60-60. PubMed  Europe PubMed DOI  M
    31. 2010
  31. Addison,W.N., Masica,D.L., Gray,J.J. and McKee,M.D.<br>Phosphorylation-dependent inhibition of mineralization by osteopontin ASARM peptides is regulated by PHEX cleavage<br>J Bone Miner Res (2010) 25, 695-705. PubMed  Europe PubMed DOI
    32. 2009
  32. Gaucher,C., Walrant-Debray,O., Nguyen,T.M., Esterle,L., Garabedian,M. and Jehan,F.<br>PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets<br>Hum Genet (2009) 125, 401-411. PubMed  Europe PubMed DOI  M
  33. Liang,G., Katz,L.D., Insogna,K.L., Carpenter,T.O. and Macica,C.M.<br>Survey of the enthesopathy of X-linked hypophosphatemia and its characterization in Hyp mice<br>Calcif Tissue Int (2009) 85, 235-246. PubMed  Europe PubMed DOI  M
    34. 2008
  34. Addison,W.N., Nakano,Y., Loisel,T., Crine,P. and McKee,M.D.<br>MEPE-ASARM peptides control extracellular matrix mineralization by binding to hydroxyapatite: an inhibition regulated by PHEX cleavage of ASARM<br>J Bone Miner Res (2008) 23, 1638-1649. PubMed  Europe PubMed DOI
  35. Barros,N.M., Nascimento,F.D., Oliveira,V., Juliano,M.A., Juliano,L., Loisel,T., Nader,H.B., Boileau,G., Tersariol,I.L. and Carmona,A.K.<br>The critical interaction of the metallopeptidase PHEX with heparan sulfate proteoglycans<br>Int J Biochem Cell Biol (2008) 40, 2781-2792. PubMed  Europe PubMed DOI
  36. Ichikawa,S., Traxler,E.A., Estwick,S.A., Curry,L.R., Johnson,M.L., Sorenson,A.H., Imel,E.A. and Econs,M.J.<br>Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets<br>Bone (2008) 43, 663-666. PubMed  Europe PubMed DOI  PMC  EPMC  M
  37. Strom,T.M. and Juppner,H.<br>PHEX, FGF23, DMP1 and beyond<br>Curr Opin Nephrol Hypertens (2008) 17, 357-362. PubMed  Europe PubMed DOI
  38. Yuan,B., Takaiwa,M., Clemens,T.L., Feng,J.Q., Kumar,R., Rowe,P.S., Xie,Y. and Drezner,M.K.<br>Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia<br>J Clin Invest (2008) 118, 722-734. PubMed  Europe PubMed DOI  PMC  EPMC
    39. 2007
  39. Liu,S., Rowe,P.S., Vierthaler,L., Zhou,J. and Quarles,L.D.<br>Phosphorylated acidic serine-aspartate-rich MEPE-associated motif peptide from matrix extracellular phosphoglycoprotein inhibits phosphate regulating gene with homologies to endopeptidases on the X-chromosome enzyme activity<br>J Endocrinol (2007) 192, 261-267. PubMed  Europe PubMed DOI
  40. Xia,W., Meng,X., Jiang,Y., Li,M., Xing,X., Pang,L., Wang,O., Pei,Y., Yu,L.Y., Sun,Y., Hu,Y. and Zhou,X.<br>Three novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic rickets<br>Calcif Tissue Int (2007) 81, 415-420. PubMed  Europe PubMed DOI  M
    41. 2006
  41. Liu,S., Zhou,J., Tang,W., Jiang,X., Rowe,D.W. and Quarles,L.D.<br>Pathogenic role of Fgf23 in Hyp mice<br>Am J Physiol Endocrinol Metab (2006) 291, E38-E49. PubMed  Europe PubMed DOI
    42. 2005
  42. Rowe,P.S., Garrett,I.R., Schwarz,P.M., Carnes,D.L., Lafer,E.M., Mundy,G.R. and Gutierrez,G.E.<br>Surface plasmon resonance (SPR) confirms that MEPE binds to PHEX via the MEPE-ASARM motif: a model for impaired mineralization in X-linked rickets (HYP)<br>Bone (2005) 36, 33-46. PubMed  Europe PubMed DOI
    43. 2004
  43. Benet-Pages,A., Lorenz-Depiereux,B., Zischka,H., White,K.E., Econs,M.J. and Strom,T.M.<br>FGF23 is processed by proprotein convertases but not by PHEX<br>Bone (2004) 35, 455-462. PubMed  Europe PubMed DOI
  44. Boileau,G.<br>PHEX endopeptidase<br>[ISSN:0-12-079610-4] (2004) 2, 438-440.  V
    45. 2003
  45. [YEAR:1-7-2003]Campos,M., Couture,C., Hirata,I.Y., Juliano,M.A., Loisel,T.P., Crine,P., Juliano,L., Boileau,G. and Carmona,A.K.<br>Human recombinant endopeptidase PHEX has a strict S1' specificity for acidic residues and cleaves peptides derived from fibroblast growth factor-23 and matrix extracellular phosphoglycoprotein<br>Biochem J (1-7-2003) 373, 271-279. PubMed  Europe PubMed DOI  PMC  EPMC
  46. [YEAR:5-9-2003]Qin,C., Brunn,J.C., Cook,R.G., Orkiszewski,R.S., Malone,J.P., Veis,A. and Butler,W.T.<br>Evidence for the proteolytic processing of dentin matrix protein 1. Identification and characterization of processed fragments and cleavage sites<br>J Biol Chem (5-9-2003) 278, 34700-34708. PubMed  Europe PubMed DOI
  47. Sabbagh,Y., Boileau,G., Campos,M., Carmona,A.K. and Tenenhouse,H.S.<br>Structure and function of disease-causing missense mutations in the PHEX gene<br>J Clin Endocrinol Metab (2003) 88, 2213-2222. PubMed  Europe PubMed DOI
    48. 2002
  48. [YEAR:1-6-2002]Bianchetti,L., Oudet,C. and Poch,O.<br>M13 endopeptidases: New conserved motifs correlated with structure, and simultaneous phylogenetic occurrence of PHEX and the bony fish<br>Proteins (1-6-2002) 47, 481-488. PubMed  Europe PubMed DOI
  49. [YEAR:13-9-2002]Guo,R., Rowe,P.S., Liu,S., Simpson,L.G., Xiao,Z.S. and Quarles,L.D.<br>Inhibition of MEPE cleavage by Phex<br>Biochem Biophys Res Commun (13-9-2002) 297, 38-45. PubMed  Europe PubMed DOI
  50. Hines,E.R., Collins,J.F., Jones,M.D., Serey,S.H. and Ghishan,F.K.<br>Glucocorticoid regulation of the murine PHEX gene<br>Am J Physiol Renal Physiol (2002) 283, F356-F363. PubMed  Europe PubMed DOI
    51. 2001
  51. [YEAR:1-5-2001]Boileau,G., Tenenhouse,H.S., Desgroseillers,L. and Crine,P.<br>Characterization of PHEX endopeptidase catalytic activity: identification of parathyroid-hormone-related peptide107-139 as a substrate and osteocalcin, PPi and phosphate as inhibitors<br>Biochem J (1-5-2001) 355, 707-713. PubMed  Europe PubMed  PMC  EPMC
  52. [YEAR:22-6-2001]Bowe,A.E., Finnegan,R., de Beur,S.M.J., Cho,J., Levine,M.A., Kumar,R. and Schiavi,S.C.<br>FGF-23 inhibits renal tubular phosphate transport and is a PHEX substrate<br>Biochem Biophys Res Commun (22-6-2001) 284, 977-981. PubMed  Europe PubMed DOI
  53. Christie,P.T., Harding,B., Nesbit,M.A., Whyte,M.P. and Thakker,R.V.<br>X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene<br>J Clin Endocrinol Metab (2001) 86, 3840-3844. PubMed  Europe PubMed DOI
  54. Guo,R., Liu,S.G., Spurney,R.F. and Quarles,L.D.<br>Analysis of recombinant Phex: an endopeptidase in search of a substrate<br>Am J Physiol Endocrinol Metab (2001) 281, E837-E847. PubMed  Europe PubMed
  55. Miao,D., Bai,X., Panda,D., McKee,M., Karaplis,A. and Goltzman,D.<br>Osteomalacia in Hyp mice is associated with abnormal Phex expression and with altered bone matrix protein expression and deposition<br>Endocrinology (2001) 142, 926-939. PubMed  Europe PubMed DOI
  56. [YEAR:15-6-2001]Shirotani,K., Tsubuki,S., Iwata,N., Takaki,Y., Harigaya,W., Maruyama,K., Kiryu-Seo,S., Kiyama,H., Iwata,H., Tomita,T., Iwatsubo,T. and Saido,T.C.<br>Neprilysin degrades both amyloid beta peptides 1-40 and 1-42 most rapidly and efficiently among thiorphan- and phosphoramidon-sensitive endopeptidases<br>J Biol Chem (15-6-2001) 276, 21895-21901. PubMed  Europe PubMed DOI  I
    57. 2000
  57. Drezner,M.K.<br>PHEX gene and hypophosphatemia<br>Kidney Int (2000) 57, 9-18. PubMed  Europe PubMed DOI
  58. Sabbagh,Y., Jones,A.O. and Tenenhouse,H.S.<br>PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia<br>Hum Mutat (2000) 16, 1-6. PubMed  Europe PubMed DOI
  59. Sato,K., Tajima,T., Nakae,J., Adachi,M., Asakura,Y., Tachibana,K., Suwa,S., Katsumata,N., Tanaka,T., Hayashi,Y., Abe,S., Murashita,M., Okuhara,K., Shinohara,N. and Fujieda,K.<br>Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets<br>Pediatr Res (2000) 48, 536-540. PubMed  Europe PubMed DOI
  60. [YEAR:25-10-2000]Zoidis,E., Zapf,J. and Schmid,C.<br>Phex cDNA cloning from rat bone and studies on Phex mRNA expression: tissue-specificity, age-dependency, and regulation by insulin-like growth factor (IGF) I in vivo<br>Mol Cell Endocrinol (25-10-2000) 168, 41-51. PubMed  Europe PubMed DOI
    61. 1999
  61. Ecarot,B. and Desbarats,M.<br>1,25-(OH)2D3 down-regulates expression of Phex, a marker of the mature osteoblast<br>Endocrinology (1999) 140, 1192-1199. PubMed  Europe PubMed DOI
  62. Filisetti,D., Ostermann,G., von Bredow,M., Strom,T., Filler,G., Ehrich,J., Pannetier,S., Garnier,J.M., Rowe,P., Francis,F., Julienne,A., Hanauer,A., Econs,M.J. and Oudet,C.<br>Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues<br>Eur J Hum Genet (1999) 7, 615-619. PubMed  Europe PubMed DOI  M
  63. Nesbitt,T., Fujiwara,I., Thomas,R., Xiao,Z.S., Quarles,L.D. and Drezner,M.K.<br>Coordinated maturational regulation of PHEX and renal phosphate transport inhibitory activity: evidence for the pathophysiological role of PHEX in X-linked hypophosphatemia<br>J Bone Miner Res (1999) 14, 2027-2035. PubMed  Europe PubMed DOI
  64. Tenenhouse,H.S.<br>X-linked hypophosphataemia: a homologous disorder in humans and mice<br>Nephrol Dial Transplant (1999) 14, 333-341. PubMed  Europe PubMed DOI
    65. 1998
  65. Dixon,P.H., Christie,P.T., Wooding,C., Trump,D., Grieff,M., Holm,I., Gertner,J.M., Schmidtke,J., Shah,B., Shaw,N., Smith,C., Tau,C., Schlessinger,D., Whyte,M.P. and Thakker,R.V.<br>Mutational analysis of PHEX gene in X-linked hypophosphatemia<br>J Clin Endocrinol Metab (1998) 83, 3615-3623. PubMed  Europe PubMed DOI  M
  66. [YEAR:29-5-1998]Lipman,M.L., Panda,D., Bennett,H.P., Henderson,J.E., Shane,E., Shen,Y., Goltzman,D. and Karaplis,A.C.<br>Cloning of human PEX cDNA. Expression, subcellular localization, and endopeptidase activity<br>J Biol Chem (29-5-1998) 273, 13729-13737. PubMed  Europe PubMed DOI
  67. Ruchon,A.F., Marcinkiewicz,M., Siegfried,G., Tenenhouse,H.S., Desgroseillers,L., Crine,P. and Boileau,G.<br>PEX mRNA is localized in developing mouse osteoblasts and odontoblasts<br>J Histochem Cytochem (1998) 46, 459-468. PubMed  Europe PubMed
    68. 1997
  68. Beck,L., Soumounou,Y., Martel,J., Krishnamurthy,G., Gauthier,C., Goodyer,C.G. and Tenenhouse,H.S.<br>Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic mice<br>J Clin Invest (1997) 99, 1200-1209. PubMed  Europe PubMed DOI  PMC  EPMC
  69. Econs,M.J. and Francis,F.<br>Positional cloning of the PEX gene: new insights into the pathophysiology of X-linked hypophosphatemic rickets<br>Am J Physiol (1997) 273, F489-F498. PubMed  Europe PubMed  K
  70. Francis,F., Strom,T.M., Hennig,S., Boddrich,A., Lorenz,B., Brandau,O., Mohnike,K.L., Cagnoli,M., Steffens,C., Klages,S., Borzym,K., Pohl,T., Oudet,C., Econs,M.J., Rowe,P.S., Reinhardt,R., Meitinger,T. and Lehrach,H.<br>Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets<br>Genome Res (1997) 7, 573-585. PubMed  Europe PubMed
  71. Grieff,M., Mumm,S., Waeltz,P., Mazzarella,R., Whyte,M.P., Thakker,R.V. and Schlessinger,D.<br>Expression and cloning of the human X-linked hypophosphatemia gene cDNA<br>Biochem Biophys Res Commun (1997) 231, 635-639. PubMed  Europe PubMed DOI
  72. Guo,R. and Quarles,L.D.<br>Cloning and sequencing of human PEX from a bone cDNA library: evidence for its developmental stage-specific regulation in osteoblasts<br>J Bone Miner Res (1997) 12, 1009-1017. PubMed  Europe PubMed DOI
  73. Holm,I.A., Huang,X. and Kunkel,L.M.<br>Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets<br>Am J Hum Genet (1997) 60, 790-797. PubMed  Europe PubMed  PMC  EPMC
  74. Rowe,P.S.<br>The PEX gene: Its role in X-linked rickets, osteomalacia, and bone mineral metabolism<br>Exp Nephrol (1997) 5, 355-363. PubMed  Europe PubMed
  75. Rowe,P.S., Oudet,C.L., Francis,F., Sinding,C., Pannetier,S., Econs,M.J., Strom,T.M., Meitinger,T., Garabedian,M., David,A., Macher,M.A., Questiaux,E., Popowska,E., Pronicka,E., Read,A.P., Mokrzycki,A., Glorieux,F.H., Drezner,M.K., Hanauer,A., Lehrach,H., Goulding,J.N. and O'Riordan,J.L.<br>Distribution of mutations in the PEX gene in families with X- linked hypophosphataemic rickets (HYP)<br>Hum Mol Genet (1997) 6, 539-549. PubMed  Europe PubMed DOI
  76. Strom,T.M., Francis,F., Lorenz,B., Boddrich,A., Econs,M.J., Lehrach,H. and Meitinger,T.<br>PEX gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia<br>Hum Mol Genet (1997) 6, 165-171. PubMed  Europe PubMed DOI
    77. 1995
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