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Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism
Open accessAbstract
The osteocyte, a terminally differentiated cell comprising 90%-95% of all bone cells, may have multiple functions, including acting as a mechanosensor in bone (re)modeling. Dentin matrix protein 1 (encoded by DMP1) is highly expressed in osteocytes and, when deleted in mice, results in a hypomineralized bone phenotype. We investigated the potential for this gene not only to direct skeletal mineralization but also to regulate phosphate (P(i)) homeostasis. Both Dmp1-null mice and individuals with a newly identified disorder, autosomal recessive hypophosphatemic rickets, manifest rickets and osteomalacia with isolated renal phosphate-wasting associated with elevated fibroblast growth factor 23 (FGF23) levels and normocalciuria. Mutational analyses showed that autosomal recessive hypophosphatemic rickets family carried a mutation affecting the DMP1 start codon, and a second family carried a 7-bp deletion disrupting the highly conserved DMP1 C terminus. Mechanistic studies using Dmp1-null mice demonstrated that absence of DMP1 results in defective osteocyte maturation and increased FGF23 expression, leading to pathological changes in bone mineralization. Our findings suggest a bone-renal axis that is central to guiding proper mineral metabolism.
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“Impaired DMP1 function is associated with a hypomineralized bone phenotype, which can result in rickets or osteomalacia 40,41 .”
From Sex-specific gene expression signatures of calcific aortic valve stenosis in a large collection of human tissues (2026) · cites this paper as [41]
In the citing paper
“Mutations in genes that have highly enriched expression in osteocytes cause rare bone and mineral disorders.”
From Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease (2021) · cites this paper as [20]
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Cites
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InfluentialSelf-citationMutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis
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Mechanisms of phosphate transport
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Physiological Actions of Fibroblast Growth Factor-23
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“ARHR1 is caused by loss-of-function mutations in dentin matrix protein-1, which is required for normal mineralization of bone (18).”
Overview of the FGF23-Klotho axis
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“XLH and ARHR are caused by mutations in the PHEX (a phosphateregulating gene with homologies to endopeptidases on the X-chromosome) gene [14] and the DMP-1 (dentin matrix protein-1) gene [15, 16], respectively.”
BackgroundRafaelsen, S., Johansson, S., Ræder, H., & Bjerknes, R. (2015) · European Journal of Endocrinology · doi:10.1530/eje-15-0515 · Cited by 161
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“In diseases associated with phosphate imbalance, serum levels of FGF23 are pathologically altered with elevations in phosphate wasting diseases, such as autosomal-dominant hypophosphatemic rickets (ADHR) [8], X-linked hypophosphatemic rickets (XLH) and tumorinduced osteomalacia (TIO) [9, 10], and autosomal-recessive h…”
BackgroundFGF-23: More than a regulator of renal phosphate handling?
Jüppner, H., Wolf, M. S., & Salusky, I. B. (2010) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.170 · Cited by 164
“(41–43,47) Other inherited disorders with increased or inappropriately normal FGF-23 levels include X-linked hypophosphatemia (XLH), which is caused by inactivating mutations in PHEX,((41,43,45)) and two forms of autosomal recessive hypophosphatemia (ARHP) that are caused by homozygous mutations in either DMP1((48,49)…”
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Hypophosphatemia induced by intravenous administration of saccharated ferric oxide
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“Previous studies indicated that excess actions of FGF23 are responsible for several hypophosphatemic diseases including X-linked, autosomal dominant and autosomal recessive hypophosphatemic rickets/osteomalacia (XLH, ADHR, and ARHR) [5–10], tumor-induced rickets/osteomalacia (TIO) [1] and hypophosphatemic disease asso…”
BackgroundWöhrle, S., Henninger, C., Bonny, O., Thuery, A., Beluch, N., Hynes, N. E., Guagnano, V., Sellers, W. R., Hofmann, F., Kneissel, M., et al. (2012) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.1810 · Cited by 152
“Whereas ADHR is characterized by gain-of-function mutations in FGF23 itself,((17)) XLH and ARHR are caused by inactivating mutations in the PHEX and DMP1 genes, respectively, leading to elevated expression of FGF23 in bone.((13,14,18))”
BackgroundMethodOsteocyte Remodeling of the Perilacunar and Pericanalicular Matrix
Qing, H., & Bonewald, L. F. (2009) · International Journal of Oral Science · doi:10.4248/ijos.09019 · Cited by 152
Self-citationCarvalho, M. S., Cabral, J. M. S., da Silva, C. L., & Vashishth, D. (2021) · Polymers · doi:10.3390/polym13071095 · Cited by 163
“DMP-1-knockout mouse has further confirmed the potential role of DMP-1 in bone mineralization, since these mice have significant lower mineral content when compared to wild-type control mice [147,148].”
BackgroundVitamin D Metabolism and Rickets in Domestic Animals
Dittmer, K. E., & Thompson, K. G. (2010) · Veterinary Pathology · doi:10.1177/0300985810375240 · Cited by 150
The expanding family of hypophosphatemic syndromes
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“The occurrence of yet another disorder, autosomal-recessive hypophosphatemic rickets (ARHR), was described in 2006 [50, 51].”
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FGF23 is a hormone-regulating phosphate metabolism—Unique biological characteristics of FGF23
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Central Role of Pyrophosphate in Acellular Cementum Formation
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“DMP1 is highly expressed in the osteocytes embedded in bone matrix, and is associated with maintenance of the lacunarcanalicular system of these cells [55–57].”
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Pathogenic role of Fgf23 in Dmp1 -null mice
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“X-LINKED HYPOPHOSPHATEMIA (XLH), autosomal recessive hypophosphatemic rickets (ARHR), and autosomal dominant hypophosphatemic rickets (ADHR) are hereditary hypophosphatemic disorders respectively caused by mutations of PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome) (1, 37), dent…”
BackgroundResultInfluentialSelf-citationOsteoblast Autonomous Pi Regulation via Pit1 Plays a Role in Bone Mineralization
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“elevated FGF23 levels in both human and mouse models (15),”
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FGFR3 and FGFR4 Do not Mediate Renal Effects of FGF23
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Regulation of renal phosphate transport by FGF23 is mediated by FGFR1 and FGFR4.
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“The hypophosphatemic disorders where FGF23 levels are elevated include tumor-induced osteomalacia, X-linked hypophosphatemic rickets, autosomal recessive hypophosphatemic rickets, and autosomal dominant hypophosphatemic rickets (5, 10, 12, 18, 21, 29, 35, 47).”
BackgroundType IIc Sodium–Dependent Phosphate Transporter Regulates Calcium Metabolism
Segawa, H., Onitsuka, A., Kuwahata, M., Hanabusa, E., Furutani, J., Kaneko, I., Tomoe, Y., Aranami, F., Matsumoto, N., Ito, M., et al. (2008) · Journal of the American Society of Nephrology · doi:10.1681/asn.2008020177 · Cited by 135
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Unique roles of phosphorus in endochondral bone formation and osteocyte maturation
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“We showed (1) that abnormal bone remodeling in Dmp1 null mice is due to reduced osteoclast number, which is secondary to a reduced ratio of RANKL/OPG expressed by osteoclast supporting cells and (2) that osteoblast extracellular matrix mineralization, growth plate maturation, secondary ossification center formation, a…”
BackgroundMethodInfluentialSelf-citationEffect of acute changes of serum phosphate on fibroblast growth factor (FGF)23 levels in humans
Ito, N., Fukumoto, S., Takeuchi, Y., Takeda, S., Suzuki, H., Yamashita, T., & Fujita, T. (2007) · Journal of Bone and Mineral Metabolism · doi:10.1007/s00774-007-0779-3 · Cited by 132
Amelogenesis Imperfecta and Other Biomineralization Defects in Fam20a and Fam20c Null Mice
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“ARHR is caused by inactivating mutations to dentin matrix protein 1 (DMP1).(27,54) DMP1 is produced by osteoblasts/osteocytes and accumulates in the extracellular matrix, where it facilitates mineralization of collagen in bone and promotes osteoblast/ odontoblast differentiation.”
BackgroundBone Mineral Density and Serum Biochemical Predictors of Bone Loss in Patients with CKD on Dialysis
Malluche, H. H., Davenport, D. L., Cantor, T. L., & Monier‐Faugere, M. (2014) · Clinical Journal of the American Society of Nephrology · doi:10.2215/cjn.09470913 · Cited by 131
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“Because the mineralization defect present in Dentin matrix protein-1 (Dmp-1)-deficient mice also leads to overexpression of Fgf23 [22], it is currently thought that osteocytes respond to impaired mineralization by increased Fgf23 secretion.”
BackgroundSelf-citationOsteoblast Lineage-Specific Effects of Notch Activation in the Skeleton
CANALIS, E. M., Parker, K., Feng, J. Q., & Zanotti, S. (2012) · Endocrinology · doi:10.1210/en.2012-1732 · Cited by 131
“Dmp1 is mostly expressed postnatally so that a prenatal phenotype was not expected (49).”
BackgroundSelf-citation3D Encapsulation and tethering of functionally engineered extracellular vesicles to hydrogels
Huang, C.-C., Kang, M., Shirazi, S., Lu, Y., Cooper, L. F., Gajendrareddy, P. K., & Ravindran, S. (2021) · Acta Biomaterialia · doi:10.1016/j.actbio.2021.03.030 · Cited by 131
Self-citationFibroblast growth factor 23: state of the field and future directions
Bhattacharyya, N., Chong, W. H., Gafni, R. I., & Collins, M. T. (2012) · Trends in Endocrinology and Metabolism · doi:10.1016/j.tem.2012.07.002 · Cited by 129
“Three monogenic hypophosphatemic disorders in which dysregulated FGF23 remains inadequately explained are autosomal recessive hypophosphatemic rickets (AHRH1), caused by mutations in the extracellular matrix protein, dentin matrix protein-1 (DMP-1) [69, 70], XLH, caused by mutations in the transmembrane endopeptidase…”
BackgroundMechanism of FGF23 processing in fibrous dysplasia
Bhattacharyya, N., Wiench, M., Dumitrescu, C. E., Connolly, B. M., Bugge, T. H., Patel, H. V., Gafni, R. I., Cherman, N., Cho, M., Hager, G. L., et al. (2012) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.1546 · Cited by 130
“ARHR),((9,10)) tumor-induced osteomalacia (TIO),((8)) and fibrous dysplasia of bone (FD).”
BackgroundDeshpande, A. S., Fang, P., Zhang, X., Jayaraman, T., Sfeir, C. S., & Beniash, E. (2011) · Biomacromolecules · doi:10.1021/bm2005214 · Cited by 128
The Role of the Osteocyte in Bone and Nonbone Disease
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“3-cre in osteoblasts and using DMP1-cre in early osteocytes and showed that most likely both osteoblasts and osteocytes are the physiologic source of FGF23.”
BackgroundInfluentialSelf-citationLu, Y., Ye, L., Yu, S., Zhang, S., Xie, Y., McKee, M. D., Li, Y. C., Kong, J., Eick, J. D., Dallas, S. L., et al. (2006) · Developmental Biology · doi:10.1016/j.ydbio.2006.11.001 · Cited by 129
“Mutational analyses revealed that autosomal recessive hypophosphatemia patients carried a mutation that ablated the DMP1 start codon or exhibited deletion of nucleotides in the highly conserved DMP1 C-terminus (Feng et al., 2006).”
Self-citationYao, W., Cheng, Z., Pham, A., Busse, C., Zimmermann, E. A., Ritchie, R. O., & Lane, N. E. (2008) · Arthritis & Rheumatism · doi:10.1002/art.23954 · Cited by 128
“Since our previous study had shown increased osteocyte lacunae size and local perilacunar demineralization and reduced elastic modulus after treatment with glucocorticoids (23), in the present study we evaluated whether expression of an osteocyte mineralization– regulating gene, Dmp1, might be altered by glucocorticoi…”
BackgroundFGF23 production by osteocytes
Bonewald, L. F., & Wacker, M. (2012) · Pediatric Nephrology · doi:10.1007/s00467-012-2309-3 · Cited by 128
“Loss-of-function mutations and knock-out murine models have been made for Phex, Dmp1, and Mepe [7, 20, 23–25].”
BackgroundInfluentialSelf-citationOsteocytes and WNT: the Mechanical Control of Bone Formation
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“GSK3 can be phosphorylated by Akt (Cross et al., 1995; Pap and Cooper, 1998), in response to cytokines such as BMP and IGF-1 (Force and Woodgett, 2009), or the release of prostaglandins by mechanical stimulation (Bonewald and Johnson, 2008).”
BackgroundHart, P. S., & Hart, T. C. (2007) · Cells Tissues Organs · doi:10.1159/000102682 · Cited by 128
“Mutations in DMP1 were recently shown to underlie autosomal recessive hypophosphatemic rickets [Feng et al., 2006; Lorenz-Depiereux et al., 2006].”
BackgroundClinkenbeard, E. L., Farrow, E., Summers, L. J., Cass, T. A., Roberts, J. L., Bayt, C. A., Lahm, T., Albrecht, M. E., Allen, M. R., Peacock, M., et al. (2013) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.2049 · Cited by 126
“The ADHR phenotype parallels those of X‐ linked hypophosphatemic rickets (XLH; loss of function PHEX mutations), autosomal recessive hypophosphatemic rickets type 1 (ARHR1; loss of function DMP1mutations(6,7)) and ADHR type 2 (loss of function mutations in ENPP1(8,9)) and the acquired disorder, tumor‐induced osteomala…”
BackgroundSelf-citationRegulation of phosphate homeostasis by the phosphatonins and other novel mediators
Shaikh, A., Berndt, T. J., & Kumar, R. (2008) · Pediatric Nephrology · doi:10.1007/s00467-008-0751-z · Cited by 124
“hypophosphatemia (ARHP) As in TIO Mutations in the gene for DMP-1; associated with elevated concentrations of FGF-23 [14, 17 ]”
BackgroundSelective venous catheterization for the localization of phosphaturic mesenchymal tumors
Andreopoulou, P., Dumitrescu, C. E., Kelly, M. H., Brillante, B. A., Peck, C. M. C., Wodajo, F. M., Chang, R., & Collins, M. T. (2010) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.316 · Cited by 125
Recent advances in renal phosphate handling
Farrow, E., & White, K. E. (2010) · Nature Reviews Nephrology · doi:10.1038/nrneph.2010.17 · Cited by 128
“Autosomal recessive hypophosphatemic rickets Autosomal recessive hypophosphatemic rickets (ARHR) is a disorder caused by Dentin matrix protein-1 ( DMP1 )-inactivating mutations”
Self-citationActions and Mode of Actions of FGF19 Subfamily Members
Fukumoto, S. (2008) · Endocrine Journal · doi:10.1507/endocrj.kr07e-002 · Cited by 125
“Although the precise mechanism is unknown, model mice for XLH and DMP1 knockout mice show enhanced expression of FGF23 in bone [13–15].”
BackgroundInfluentialShah, F. A., Ruscsák, K., & Palmquist, A. (2019) · Bone Research · doi:10.1038/s41413-019-0053-z · Cited by 126
Prideaux, M., Wijenayaka, A. R., Kumarasinghe, D. D., Ormsby, R. T., Evdokiou, A., Findlay, D. M., & Atkins, G. J. (2014) · Calcified Tissue International · doi:10.1007/s00223-014-9879-y · Cited by 125
“DMP1 and SOST are expressed predominantly by osteocytes [4, 13, 15, 37], and we found that although expression of these genes was low in undifferentiated SaOS2 cells, it was up-regulated as a function of time in culture and mineral deposition.”
BackgroundLiu, S., Gupta, A., & Quarles, L. D. (2007) · Current Opinion in Nephrology & Hypertension · doi:10.1097/mnh.0b013e3281ca6ffd · Cited by 124
Self-citationMeox2Cre-mediated disruption of CSF-1 leads to osteopetrosis and osteocyte defects
Harris, S. E., MacDougall, M., Horn, D., Woodruff, K., Zimmer, S. N., Rebel, V. I., Fajardo, R., Feng, J. Q., Gluhak-Heinrich, J., Harris, M. A., et al. (2012) · Bone · doi:10.1016/j.bone.2011.09.038 · Cited by 116
“To visualize the osteocyte lacunar-canalicular system, SEM of acid-etched, resin-casted bone samples was performed as previously described [12,13] and images taken using a FEI/Philips XL30 field emission environmental SEM (Phillips, Hillsboro, OR).”
BackgroundMethodSelf-citationNovel Regulators of Fgf23 Expression and Mineralization in Hyp Bone
Liu, S., Tang, W., Fang, J., Ren, J., Li, H., Xiao, Z., & Quarles, L. D. (2009) · Molecular Endocrinology · doi:10.1210/me.2009-0085 · Cited by 122
Self-citationConditional deletion of Pkd1 in osteocytes disrupts skeletal mechanosensing in mice
Xiao, Z., Dallas, M., Qiu, N., Nicolella, D. P., Cao, L., Johnson, M. L., Bonewald, L. F., & Quarles, L. D. (2011) · The FASEB Journal · doi:10.1096/fj.10-180299 · Cited by 126
Self-citationMaurel, D. B., Jähn, K., & Lara-Castillo, N. (2017) · Biomedicines · doi:10.3390/biomedicines5040062 · Cited by 127
“FGF23 is known to act on the intestine and the kidney by downregulating the expression of sodium/phosphate co-transporters responsible to absorb and reabsorb phosphate [38–40].”
BackgroundInfluentialHuman Primary Osteocyte Differentiation in a 3D Culture System
Boukhechba, F., Balaguer, T., Michiels, J., Ackermann, K., Quincey, D., Bouler, J., Pyerin, W. G., Carle, G. F., & Rochet, N. (2009) · Journal of Bone and Mineral Research · doi:10.1359/jbmr.090517 · Cited by 126
“of the osteoblast markers such as COL1A1 and ALP and the upregulation of the osteocyte genes.((31,32)) Our results are consistent with these findings; we observed here that”
BackgroundMethodResultTumor-induced Osteomalacia: A Comprehensive Review
Minisola, S., Fukumoto, S., Xia, W., Corsi, A., Colangelo, L., Scillitani, A., Pepe, J., Cipriani, C., & Thakker, R. V. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnac026 · Cited by 135
New Aspect of Renal Phosphate Reabsorption: The Type IIc Sodium-Dependent Phosphate Transporter
Miyamoto, K., Ito, M., Tatsumi, S., Kuwahata, M., & Segawa, H. (2007) · American Journal of Nephrology · doi:10.1159/000107069 · Cited by 122
Genetic evidence for the vital function of osterix in cementogenesis
Cao, Z., Zhang, H., Zhou, X., Han, X., Ren, Y., Gao, T., Xiao, Y., Crombrugghe, B. D., Somerman, M. J., & Feng, J. Q. (2012) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.1552 · Cited by 122
“We next asked whether the deletion of Osx alters the ultrastructure of the cementocytes using an acid-etched, resin-casting technique.((30)) In this technique, the polished surfaces of the resin-embedded cementum were etched with acid to remove the minerals, leaving a relief cast of the nonmineralized areas infiltrate…”
Self-citationChanges in the osteocyte lacunocanalicular network with aging
Tiede-Lewis, L. M., & Dallas, S. L. (2019) · Bone · doi:10.1016/j.bone.2019.01.025 · Cited by 122
Trombetti, A., Al‐Daghri, N. M., Brandi, M. L., Cannata-Andía, J. B., Cavalier, E., Chandran, M., Chaussain, C., Cipullo, L., Cooper, C. C., Haffner, D., et al. (2022) · Nature Reviews Endocrinology · doi:10.1038/s41574-022-00662-x · Cited by 121
Serum fibroblast growth factor-23 (FGF-23) and fracture risk in elderly men
Mirza, M. A. I., Karlsson, M. K., Mellström, D., ORWOLL, E. S., Ohlsson, C., Ljunggren, Ö., & Larsson, T. E. (2010) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.263 · Cited by 121
“(3) Overexpression of FGF-23 in bone is an important pathogenic factor in several human skeletal disorders such as autosomal dominant hypophosphataemic rickets (ADHR),((4)) tumor-induced osteomalacia (TIO),((5)) fibrous dysplasia/McCune-Albright syndrome (FD/ MAS),((1)) X-linked hypophosphataemic rickets (XLH),((6)) a…”
BackgroundPiemontese, M., Onal, M., Xiong, J., Li, H., Thostenson, J. D., Almeida, M., & O’Brien, C. A. (2016) · Scientific Reports · doi:10.1038/srep24262 · Cited by 123
Fukumoto, S. (2008) · Internal Medicine · doi:10.2169/internalmedicine.47.0730 · Cited by 119
“Although the precise functions of PHEX and DMP1 proteins are not yet elucidated, enhanced expression of FGF23 in bone has been reported in model mice for XLH and DMP1-null mice (28, 30).”
BackgroundEstrogen receptor α in osteocytes regulates trabecular bone formation in female mice
Kondoh, S., Inoue, K., Igarashi, K., Sugizaki, H., Shirode-Fukuda, Y., Inoue, E., Yu, T., Takeuchi, J., Kanno, J., Bonewald, L. F., et al. (2013) · Bone · doi:10.1016/j.bone.2013.12.005 · Cited by 123
“In addition, they are known to be involved in mineral metabolism through expression of proteins such as FGF23, Phex, Mepe, and Dmp1 [21–24] (for review, see [25]).”
Self-citationProgress of genome wide association study in domestic animals
Zhang, H., Wang, Z., Wang, S., & Li, H. (2012) · Journal of Animal Science and Biotechnology/Journal of animal science and biotechnology · doi:10.1186/2049-1891-3-26 · Cited by 119
RetractedSpecies-specific homing mechanisms of human prostate cancer metastasis in tissue engineered bone
Holzapfel, B. M., Wagner, F., Loessner, D., Holzapfel, N. P., Thibaudeau, L., Crawford, R., Ling, M., Clements, J. A., Russell, P. J., & Hutmacher, D. W. (2014) · Biomaterials · doi:10.1016/j.biomaterials.2014.01.062 · Cited by 116
“The surface was then etched with 37% phosphoric acid for 2e10 s, washed with sodium hypochlorite and rinsed with ddH2O [34].”
MethodGenotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region
Strehle, E., Yu, L., Rosenfeld, J. A., Donkervoort, S. C., Zhou, Y., Chen, T., Martinez, J. E., Fan, Y., Barbouth, D., Zhu, H., et al. (2012) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35502 · Cited by 114
“Mutations of theDMP1 gene are associated with autosomal recessive hypophosphatemia, a disease that manifests as rickets and osteomalacia [Feng et al., 2006].”
BackgroundThe roles of osteocytes in alveolar bone destruction in periodontitis
Huang, X., Xie, M., Xie, Y., Feng, M., Lu, X., Li, X., & Chen, L. (2020) · Journal of Translational Medicine · doi:10.1186/s12967-020-02664-7 · Cited by 122
“The loss or mutation of DMP1 or phosphate-regulating gene with homologies to endopeptidases on the X chromosome (Phex), which are both highly expressed by osteocytes, can lead to upregulation of FGF23 in osteocytes and subsequent hypophosphatemia [128, 129].”
BackgroundSelf-citationOsteocyte-Specific Deletion of Fgfr1 Suppresses FGF23
Xiao, Z., Huang, J., Cao, L., Liang, Y., Han, X., & Quarles, L. D. (2014) · PLoS ONE · doi:10.1371/journal.pone.0104154 · Cited by 113
Self-citationTurner, C. H., Warden, S. J., Bellido, T., Plotkin, L. I., Kumar, N. C., Jasiuk, I., Danzig, J., & Robling, A. G. (2009) · Science Signaling · doi:10.1126/scisignal.268pt3 · Cited by 114
“This fluid also fills the space between the osteocyte processes and the lamina limitans (right) (7).”
BackgroundBiomineralization‐Inspired Material Design for Bone Regeneration
Pereira, D. D. M., & Habibović, P. (2018) · Advanced Healthcare Materials · doi:10.1002/adhm.201800700 · Cited by 112
An Overview of Rickets in Children
Chanchlani, R., Nemer, P., Sinha, R., Nemer, L., Krishnappa, V., Sochett, E. B., Safadi, F. F., & Raina, R. (2020) · Kidney International Reports · doi:10.1016/j.ekir.2020.03.025 · Cited by 112
“Autosomal Recessive Hypophosphatemic Rickets ARHR type 1 occurs due to loss of function mutations in DMP 1, a noncollagenous bone matrix protein expressed in osteoblasts and osteocytes.(45,56) DMP1 has a role in osteocyte proliferation and in the downregulation of FGF-23 and hence loss of its function will augment FGF…”
BackgroundMolecular determinants of extracellular matrix mineralization in bone and blood vessels
Murshed, M., & McKee, M. D. (2010) · Current Opinion in Nephrology & Hypertension · doi:10.1097/mnh.0b013e3283393a2b · Cited by 114
Biomineralization of bone: a fresh view of the roles of non-collagenous proteins
Gorski, J. P. (2011) · Frontiers in bioscience · doi:10.2741/3875 · Cited by 116
“DMP1 null mice and patients with DMP1 mutations exhibit autosomic hypophosphatemic rickets (92, 93).”
The role of osteocytes in bone mechanotransduction
Santos, A., Bakker, A. D., & Klein‐Nulend, J. (2009) · Osteoporosis International · doi:10.1007/s00198-009-0858-5 · Cited by 110
“A number of molecules have been identified as important markers of osteocytes, such as matrix extracellular phosphoglycoprotein [6] sclerostin [7], dentin matrix protein-1 [8], and phex protein [8].”
Atkins, G., Welldon, K. J., Holding, C., Haynes, D., Howie, D., & Findlay, D. (2009) · Biomaterials · doi:10.1016/j.biomaterials.2009.03.035 · Cited by 110
Genetic Disorders of Renal Phosphate Transport
Prié, D., & Friedlander, G. (2010) · New England Journal of Medicine · doi:10.1056/nejmra0904186 · Cited by 107
SCPP Gene Evolution and the Dental Mineralization Continuum
Kawasaki, K., & Weiss, K. M. (2008) · Journal of Dental Research · doi:10.1177/154405910808700608 · Cited by 112
“However, Dmp1-null mice are severely hypophosphatemic, and in humans the loss of DMP1 activity has been associated with autosomal-recessive hypophosphatemic rickets (no dentin defect has been reported) (Feng et al., 2006; Lorenz-Depiereux et al., 2006).”
BackgroundAono, Y., Hasegawa, H., Yamazaki, Y., Shimada, T., Fujita, T., Yamashita, T., & Fukumoto, S. (2010) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.275 · Cited by 107
Bone Formation Regulates Circulating Concentrations of Fibroblast Growth Factor 23
Samadfam, R., Richard, C., Nguyen‐Yamamoto, L., Bolivar, I., & Goltzman, D. (2009) · Endocrinology · doi:10.1210/en.2009-0472 · Cited by 106
“Increased turnover was induced by administering exogenous PTH(1-34) (34).”
BackgroundStrom, T. M., & Jüppner, H. (2008) · Current Opinion in Nephrology & Hypertension · doi:10.1097/mnh.0b013e3282fd6e5b · Cited by 106
Survey of the Enthesopathy of X-Linked Hypophosphatemia and Its Characterization in Hyp Mice
Liang, G., Katz, L. D., Insogna, K. L., Carpenter, T. O., & Macica, C. M. (2009) · Calcified Tissue International · doi:10.1007/s00223-009-9270-6 · Cited by 106
“A number of phosphate-wasting disorders phenotypically similar to XLH have been attributed to high circulating levels of FGF-23, including tumor-induced osteomalacia (TIO), autosomal dominant hypophosphatemic rickets (ADHR), and autosomal recessive hypophosphatemic rickets (ARHR) [1–5].”
Distribution of SIBLING proteins in the organic and inorganic phases of rat dentin and bone
Huang, B., Sun, Y., Maciejewska, I., Qin, D., Peng, T., McIntyre, B. W., Wygant, J. N., Butler, W. T., & Qin, C. (2008) · European Journal Of Oral Sciences · doi:10.1111/j.1600-0722.2008.00522.x · Cited by 105
Fibroblast growth factor 23 and bone mineralisation
Guo, Y.-C., & Yuan, Q. (2015) · International Journal of Oral Science · doi:10.1038/ijos.2015.1 · Cited by 105
Cory, E., Nazarian, A., Entezari, V., Vartanians, V. M., Müller, R., & Snyder, B. D. (2009) · Journal of Biomechanics · doi:10.1016/j.jbiomech.2009.10.047 · Cited by 104
“04% P) and severe secondary hyperparathyroidism (Turner et al., 1996; Miller et al., 1998; Freesmeyer et al., 2001; Kazama et al., 2003; Brkovic et al., 2005; Feng et al., 2006; Jokihaara et al., 2006).”
Conigrave, A. D., Brown, E. M., & Rizzoli, R. (2008) · Annual Review of Nutrition · doi:10.1146/annurev.nutr.28.061807.155328 · Cited by 107
Metadata
- Authors
- Feng, J. Q., Ward, L. M., Liu, S., Lu, Y., Xie, Y., Yuan, B., Yu, X., Rauch, F., Davis, S. I., Zhang, S., Rios, H., Drezner, M. K., Quarles, L. D., Bonewald, L. F., & White, K. E.
- Affiliations
- University of Missouri–Kansas City (US)
- University of Ottawa (CA)
- University of Kansas (US)
- University of Wisconsin–Madison (US)
- Indiana University Indianapolis (US)
- McGill University (CA)
- Corresponding author
- Ward, Leanne M
- Quarles, L Darryl
- ORCID
- Venue
- Nature Genetics
- Published
- 2006-10-08
- Volume
- 38
- Issue
- 11
- Pages
- 1310-1315
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC1839871
- OpenAlex
- W2051959338
- Cited by
- 1,199
- References
- 25
- Citations by year
- 2026: 29 · 2025: 19 · 2024: 31 · 2023: 47 · 2022: 60 · 2021: 59 · 2020: 61 · 2019: 63 · 2018: 62 · 2017: 57 · 2016: 52 · 2015: 64 · 2014: 58 · 2013: 81 · 2012: 93
- FWCI
- 46.09
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- IUScholarWorks (Indiana University) (submittedVersion)
- Funders
- National Institute of Diabetes and Digestive and Kidney Diseases (DK063934, R01DK063934)
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (R01AR045955, R01AR051587, AR 046798, R01AR027032, AR027032, R56AR045955, R56AR027032, P01AR046798, AR051587, AR-45955)
- National Institute of Dental and Craniofacial Research (DE 13480, R29DE013480)
- Topics
- Health Sciences › Medicine › Nephrology › Parathyroid Disorders and Treatments
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Alkaline Phosphatase Research Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bone Metabolism and Diseases
- Keywords
- DMP1, osteocytes, rickets, osteomalacia, phosphate homeostasis, fibroblast growth factor 23, bone mineralization, renal phosphate wasting, start codon mutation, C-terminal deletion
- MeSH terms
- Fibroblast Growth Factor-23, Adult, Animals, Bone and Bones, Calcification, Physiologic, Cells, Cultured, DNA Mutational Analysis, Female, Fibroblast Growth Factors, Humans, Kidney, Male, Mice, Inbred C57BL, Minerals, Osteocytes, Osteomalacia, Phosphates, Phosphoproteins, Rickets, Extracellular Matrix Proteins, Mice, Knockout, Mice
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