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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.
    Unusual PHEX variants implicate uncommon genetic mechanisms for X-linked hypophosphatemic rickets
    JBMR Plus9, ziae152-ziae152. PubMed  Europe PubMed DOI
    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.
    A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the PHEX Gene
    Genes (Basel)15, PubMed  Europe PubMed DOI
  3. Kamenicky,P., Briot,K., Munns,C.F. and Linglart,A.
    X-linked hypophosphataemia
    Lancet404, 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.
    Characterization of novel PHEX variants in X-linked hypophosphatemic rickets and genotype-PHEX activity correlation
    J Clin Endocrinol Metab109, 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.
    X-linked hypophosphatemia caused by a deep intronic variant in PHEX identified by PCR-based RNA analysis of urine-derived cells
    Bone176, 116839-116839. PubMed  Europe PubMed DOI
    6. 2022
  6. Donmez,B.O., Karagur,E.R., Donmez,A.C., Choi,J. and Akkus,O.
    Calciumƒ_'dependent activation of PHEX, MEPE and DMP1 in osteocytes
    Mol Med Rep26, PubMed  Europe PubMed DOI
    7. 2021
  7. Alikasifoglu,A., Unsal,Y., Gonc,E.N., Ozon,Z.A., Kandemir,N. and Alikasifoglu,M.
    Long-term effect of conventional phosphate and calcitriol treatment on metabolic recovery and catch-up growth in children with PHEX mutation
    J Pediatr Endocrinol Metab PubMed  Europe PubMed DOI
  8. Constantacos,C., Hunter,J.D., Walsh,E.T. and South,A.M.
    Rare PHEX variant with insidious presentation leads to a delayed diagnosis of X-linked hypophosphatemia
    BMJ Case Rep14, e240336-e240336. PubMed  Europe PubMed DOI
  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.
    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
    Bone153, 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.
    X-linked hypophosphatemic rickets: a new mutation
    J Bras Nefrol PubMed  Europe PubMed DOI
  11. Minamizaki,T., Sakurai,K., Hayashi,I., Toshishige,M., Yoshioka,H., Kozai,K. and Yoshiko,Y.
    Active sites of human MEPE-ASARM regulating bone matrix mineralization
    Mol Cell Endocrinol517, 110931-110931. PubMed  Europe PubMed DOI
  12. Yamamoto,A., Nakamura,T., Ohata,Y., Kubota,T. and Ozono,K.
    Phenotypes of a family with XLH with a novel PHEX mutation
    Hum Genome Var7, 8-8. PubMed  Europe PubMed DOI  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.
    Identification of a p.Trp403* nonsense variant in PHEX causing X-linked hypophosphatemia by inhibiting p38 MAPK signaling
    Hum Mutat40, 879-885. PubMed  Europe PubMed DOI  M
    14. 2018
  14. Gao,Y., Wang,Z.M. and Li,X.L.
    Analysis of 2 novel mutations of PHEX gene inducing X-linked dominant hypophosphatemia rickets in 2 families: two case reports
    Medicine (Baltimore)97, e11453-e11453. PubMed  Europe PubMed DOI  M
  15. Liao,H., Zhu,H.M., Liu,H.Q., Li,L.P., Liu,S.L. and Wang,H.
    Two novel variants of the PHEX gene in patients with Xlinked dominant hypophosphatemic rickets and prenatal diagnosis for fetuses in these families
    Int J Mol Med41, 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.
    A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets
    Ann Pediatr Endocrinol Metab23, 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.
    Identification of a novel loss-of-function PHEX mutation, Ala720Ser, in a sporadic case of adult-onset hypophosphatemic osteomalacia
    Bone106, 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.
    Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets
    Int J Mol Med38, 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.
    Expression and inactivation of osteopontin-degrading PHEX enzyme in squamous cell carcinoma
    Int J Biochem Cell Biol77, 155-164. PubMed  Europe PubMed DOI
  20. Sui,T., Yuan,L., Liu,H., Chen,M., Deng,J., Wang,Y., Li,Z. and Lai,L.
    CRISPR/Cas9-mediated mutation of PHEX in rabbit recapitulates human X-linked hypophosphatemia (XLH)
    Hum Mol Genet25, 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.
    Identification of a novel PHEX mutation in a Chinese family with X-linked hypophosphatemic rickets using exome sequencing
    Biol Chem396, 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.
    A novel PHEX gene mutation in a patient with sporadic hypophosphatemic rickets
    Endocrinol Metab (Seoul)29, 195-201. PubMed  Europe PubMed DOI  M
  23. Liu,S., Wei,M., Xiao,J., Wang,C.Y. and Qiu,Z.Q.
    [Three PHEX gene mutations in Chinese subjects with hypophosphatemic rickets and literature review]
    Zhongguo Dang Dai Er Ke Za Zhi16, 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.
    Proteolytic processing of osteopontin by PHEX and accumulation of osteopontin fragments in Hyp mouse bone, the murine model of X-linked hypophosphatemia
    J Bone Miner Res28, 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.
    Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets
    Biochem Biophys Res Commun423, 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.
    A novel Phex mutation in a new mouse model of hypophosphatemic rickets
    J Cell Biochem113, 2432-2441. PubMed  Europe PubMed DOI  M
  27. Rowe,P.S.
    The chicken or the egg: PHEX, FGF23 and SIBLINGs unscrambled
    Cell Biochem Funct30, 355-375. PubMed  Europe PubMed DOI
  28. St-Louis,M. and Boileau,G.
    PHEX endopeptidase
    [ISSN:978-0-12-407744-7]3, 638-641. DOI
    29. 2011
  29. David,V., Martin,A., Hedge,A.M., Drezner,M.K. and Rowe,P.S.
    ASARM peptides: PHEX-dependent and -independent regulation of serum phosphate
    Am J Physiol Renal Physiol300, F783-F791. PubMed  Europe PubMed DOI
  30. Moriyama,K., Hanai,A., Mekada,K., Yoshiki,A., Ogiwara,K., Kimura,A. and Takahashi,T.
    Kbus/Idr, a mutant mouse strain with skeletal abnormalities and hypophosphatemia: Identification as an allele of 'Hyp'
    J Biomed Sci18, 60-60. PubMed  Europe PubMed DOI  M
    31. 2010
  31. Addison,W.N., Masica,D.L., Gray,J.J. and McKee,M.D.
    Phosphorylation-dependent inhibition of mineralization by osteopontin ASARM peptides is regulated by PHEX cleavage
    J Bone Miner Res25, 695-705. PubMed  Europe PubMed DOI
    32. 2009
  32. Gaucher,C., Walrant-Debray,O., Nguyen,T.M., Esterle,L., Garabedian,M. and Jehan,F.
    PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets
    Hum Genet125, 401-411. PubMed  Europe PubMed DOI  M
  33. Liang,G., Katz,L.D., Insogna,K.L., Carpenter,T.O. and Macica,C.M.
    Survey of the enthesopathy of X-linked hypophosphatemia and its characterization in Hyp mice
    Calcif Tissue Int85, 235-246. PubMed  Europe PubMed DOI  M
    34. 2008
  34. Addison,W.N., Nakano,Y., Loisel,T., Crine,P. and McKee,M.D.
    MEPE-ASARM peptides control extracellular matrix mineralization by binding to hydroxyapatite: an inhibition regulated by PHEX cleavage of ASARM
    J Bone Miner Res23, 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.
    The critical interaction of the metallopeptidase PHEX with heparan sulfate proteoglycans
    Int J Biochem Cell Biol40, 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.
    Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets
    Bone43, 663-666. PubMed  Europe PubMed DOI  M
  37. Strom,T.M. and Juppner,H.
    PHEX, FGF23, DMP1 and beyond
    Curr Opin Nephrol Hypertens17, 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.
    Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia
    J Clin Invest118, 722-734. PubMed  Europe PubMed DOI
    39. 2007
  39. Liu,S., Rowe,P.S., Vierthaler,L., Zhou,J. and Quarles,L.D.
    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
    J Endocrinol192, 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.
    Three novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic rickets
    Calcif Tissue Int81, 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.
    Pathogenic role of Fgf23 in Hyp mice
    Am J Physiol Endocrinol Metab291, 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.
    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)
    Bone36, 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.
    FGF23 is processed by proprotein convertases but not by PHEX
    Bone35, 455-462. PubMed  Europe PubMed DOI
  44. Boileau,G.
    PHEX endopeptidase
    [ISSN:0-12-079610-4]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.
    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
    Biochem J373, 271-279. PubMed  Europe PubMed DOI
  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.
    Evidence for the proteolytic processing of dentin matrix protein 1. Identification and characterization of processed fragments and cleavage sites
    J Biol Chem278, 34700-34708. PubMed  Europe PubMed DOI
  47. Sabbagh,Y., Boileau,G., Campos,M., Carmona,A.K. and Tenenhouse,H.S.
    Structure and function of disease-causing missense mutations in the PHEX gene
    J Clin Endocrinol Metab88, 2213-2222. PubMed  Europe PubMed DOI
    48. 2002
  48. [YEAR:1-6-2002]Bianchetti,L., Oudet,C. and Poch,O.
    M13 endopeptidases: New conserved motifs correlated with structure, and simultaneous phylogenetic occurrence of PHEX and the bony fish
    Proteins47, 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.
    Inhibition of MEPE cleavage by Phex
    Biochem Biophys Res Commun297, 38-45. PubMed  Europe PubMed DOI
  50. Hines,E.R., Collins,J.F., Jones,M.D., Serey,S.H. and Ghishan,F.K.
    Glucocorticoid regulation of the murine PHEX gene
    Am J Physiol Renal Physiol283, F356-F363. PubMed  Europe PubMed DOI
    51. 2001
  51. [YEAR:1-5-2001]Boileau,G., Tenenhouse,H.S., Desgroseillers,L. and Crine,P.
    Characterization of PHEX endopeptidase catalytic activity: identification of parathyroid-hormone-related peptide107-139 as a substrate and osteocalcin, PPi and phosphate as inhibitors
    Biochem J355, 707-713. PubMed  Europe PubMed
  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.
    FGF-23 inhibits renal tubular phosphate transport and is a PHEX substrate
    Biochem Biophys Res Commun284, 977-981. PubMed  Europe PubMed DOI
  53. Christie,P.T., Harding,B., Nesbit,M.A., Whyte,M.P. and Thakker,R.V.
    X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene
    J Clin Endocrinol Metab86, 3840-3844. PubMed  Europe PubMed DOI
  54. Guo,R., Liu,S.G., Spurney,R.F. and Quarles,L.D.
    Analysis of recombinant Phex: an endopeptidase in search of a substrate
    Am J Physiol Endocrinol Metab281, E837-E847. PubMed  Europe PubMed
  55. Miao,D., Bai,X., Panda,D., McKee,M., Karaplis,A. and Goltzman,D.
    Osteomalacia in Hyp mice is associated with abnormal Phex expression and with altered bone matrix protein expression and deposition
    Endocrinology142, 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.
    Neprilysin degrades both amyloid beta peptides 1-40 and 1-42 most rapidly and efficiently among thiorphan- and phosphoramidon-sensitive endopeptidases
    J Biol Chem276, 21895-21901. PubMed  Europe PubMed DOI  I
    57. 2000
  57. Drezner,M.K.
    PHEX gene and hypophosphatemia
    Kidney Int57, 9-18. PubMed  Europe PubMed DOI
  58. Sabbagh,Y., Jones,A.O. and Tenenhouse,H.S.
    PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia
    Hum Mutat16, 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.
    Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets
    Pediatr Res48, 536-540. PubMed  Europe PubMed DOI
  60. [YEAR:25-10-2000]Zoidis,E., Zapf,J. and Schmid,C.
    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
    Mol Cell Endocrinol168, 41-51. PubMed  Europe PubMed DOI
    61. 1999
  61. Ecarot,B. and Desbarats,M.
    1,25-(OH)2D3 down-regulates expression of Phex, a marker of the mature osteoblast
    Endocrinology140, 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.
    Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues
    Eur J Hum Genet7, 615-619. PubMed  Europe PubMed DOI  M
  63. Nesbitt,T., Fujiwara,I., Thomas,R., Xiao,Z.S., Quarles,L.D. and Drezner,M.K.
    Coordinated maturational regulation of PHEX and renal phosphate transport inhibitory activity: evidence for the pathophysiological role of PHEX in X-linked hypophosphatemia
    J Bone Miner Res14, 2027-2035. PubMed  Europe PubMed DOI
  64. Tenenhouse,H.S.
    X-linked hypophosphataemia: a homologous disorder in humans and mice
    Nephrol Dial Transplant14, 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.
    Mutational analysis of PHEX gene in X-linked hypophosphatemia
    J Clin Endocrinol Metab83, 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.
    Cloning of human PEX cDNA. Expression, subcellular localization, and endopeptidase activity
    J Biol Chem273, 13729-13737. PubMed  Europe PubMed DOI
  67. Ruchon,A.F., Marcinkiewicz,M., Siegfried,G., Tenenhouse,H.S., Desgroseillers,L., Crine,P. and Boileau,G.
    PEX mRNA is localized in developing mouse osteoblasts and odontoblasts
    J Histochem Cytochem46, 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.
    Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic mice
    J Clin Invest99, 1200-1209. PubMed  Europe PubMed DOI
  69. Econs,M.J. and Francis,F.
    Positional cloning of the PEX gene: new insights into the pathophysiology of X-linked hypophosphatemic rickets
    Am J Physiol273, 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.
    Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets
    Genome Res7, 573-585. PubMed  Europe PubMed
  71. Grieff,M., Mumm,S., Waeltz,P., Mazzarella,R., Whyte,M.P., Thakker,R.V. and Schlessinger,D.
    Expression and cloning of the human X-linked hypophosphatemia gene cDNA
    Biochem Biophys Res Commun231, 635-639. PubMed  Europe PubMed DOI
  72. Guo,R. and Quarles,L.D.
    Cloning and sequencing of human PEX from a bone cDNA library: evidence for its developmental stage-specific regulation in osteoblasts
    J Bone Miner Res12, 1009-1017. PubMed  Europe PubMed DOI
  73. Holm,I.A., Huang,X. and Kunkel,L.M.
    Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets
    Am J Hum Genet60, 790-797. PubMed  Europe PubMed
  74. 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.
    Distribution of mutations in the PEX gene in families with X- linked hypophosphataemic rickets (HYP)
    Hum Mol Genet6, 539-549. PubMed  Europe PubMed DOI
  75. Rowe,P.S.
    The PEX gene: Its role in X-linked rickets, osteomalacia, and bone mineral metabolism
    Exp Nephrol5, 355-363. PubMed  Europe PubMed
  76. Strom,T.M., Francis,F., Lorenz,B., Boddrich,A., Econs,M.J., Lehrach,H. and Meitinger,T.
    PEX gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia
    Hum Mol Genet6, 165-171. PubMed  Europe PubMed DOI
    77. 1995
  77. Francis,F., Hennig,S., Korn,B., Reinhardt,R., de Jong,P., Poustka,A., Lehrach,H., Rowe,P.S.N., Goulding,J.N., Summerfield,T., Mountford,R., Read,A.P., Popowska,E., Pronicka,E., Davies,K.E., O'Riordan,J.L.H., Econs,M.J., Nesbitt,T., Drezner,M.K., Oudet,C., Pannetier,S., Hanauer,A., Strom,T.M. and Meindl,A.
    A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets
    Nat Genet11, 130-136. PubMed  Europe PubMed DOI

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