SEARCH

SEARCH BY CITATION

References

  • 1
    Quarles LD. Endocrine functions of bone in mineral metabolism regulation. J Clin Invest. 2008; 118(12):38208.
  • 2
    Shimada T, Mizutani S, Muto T, Yoneya T, Hino R, Takeda S, Takeuchi Y, Fujita T, Fukumoto S, Yamashita T. Cloning characterization of FGF23 as a causative factor of tumor-induced osteomalacia. Proc Natl Acad Sci U.S.A. 2001; 98(11):65005.
  • 3
    Liu S, Tang W, Zhou J, Stubbs JR, Luo Q, Pi M, Quarles LD. Fibroblast growth factor 23 is a counter-regulatory phosphaturic hormone for vitamin D. J Am Soc Nephrol. 2006; 17(5):130515.
  • 4
    Francis F, Hennig S, Korn B, Reinhardt R, de Jong P, Poustka A, Lehrach H, Rowe PSN, Goulding JN, Summerfield T, Mountford R, Read AP, Popowska E, Pronicka E, Davies KE, O'Riordan JLH, Econs MJ, Nesbitt T, Drezner MK, Oudet C, Pannetier S, Hanauer A, Strom TM, Meindl A, Lorenz B, Cagnoli B, Mohnike KL, Murken J, Meitinger T. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium. Nat Genet. 1995; 11(2):1306.
  • 5
    ADHR Consortium. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet. 2000; 26 3 345–8.
  • 6
    Bastepe M, Juppner H. Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation. Rev Endocr Metab Disord. 2008; 9(2):17180.
  • 7
    Lorenz-Depiereux B, Schnabel D, Tiosano D, Hausler G, Strom TM. Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. Am J Hum Genet. 2010; 86(2):26772.
  • 8
    Raeder H, Rafaelsen S, Bjerknes R. Monogenic phosphate balance disorders. In: Diamanti-Kandarakis E, editor. Contemporary aspects of endocrinology [Internet]. New York: InTech; [cited 2012 Dec 19]. Available from: http://www.intechopen com/books/contemporary-aspects-of-endocrinology/monogenic-phosphate-balance-disorders. 2011.
  • 9
    Bergwitz C, Juppner H. FGF23 and syndromes of abnormal renal phosphate handling. Adv Exp Med Biol. 2012; 728:4164.
  • 10
    Grimnes G, Almaas B, Eggen AE, Emaus N, Figenschau Y, Hopstock LA, Hutchinson MS, Methlie P, Mihailova A, Sneve M, Torjesen P, Wilsgaard T, Jorde R. Effect of smoking on the serum levels of 25-hydroxyvitamin D depends on the assay employed. Eur J Endocrinol. 2010; 163(2):33948.
  • 11
    Walton RJ, Bijvoet OL. Nomogram for derivation of renal threshold phosphate concentration. Lancet. 1975; 2(7929):30910.
  • 12
    Barth JH, Jones RG, Payne RB. Calculation of renal tubular reabsorption of phosphate: the algorithm performs better than the nomogram. Ann Clin Biochem. 2000; 37(Pt 1):7981.
  • 13
    Bentley DR, Balasubramanian S, Swerdlow HP, Smith GP, Milton J, Brown CG, Hall KP, Evers DJ, Barnes CL, Bignell HR, Boutell JM, Bryant J, Carter RJ, Keira Cheetham R, Cox AJ, Ellis DJ, Flatbush MR, Gormley NA, Humphray SJ, Irving LJ, Karbelashvili MS, Kirk SM, Li H, Liu X, Maisinger KS, Murray LJ, Obradovic B, Ost T, Parkinson ML, Pratt MR, Rasolonjatovo IM, Reed MT, Rigatti R, Rodighiero C, Ross MT, Sabot A, Sankar SV, Scally A, Schroth GP, Smith ME, Smith VP, Spiridou A, Torrance PE, Tzonev SS, Vermaas EH, Walter K, Wu X, Zhang L, Alam MD, Anastasi C, Aniebo IC, Bailey DM, Bancarz IR, Banerjee S, Barbour SG, Baybayan PA, Benoit VA, Benson KF, Bevis C, Black PJ, Boodhun A, Brennan JS, Bridgham JA, Brown RC, Brown AA, Buermann DH, Bundu AA, Burrows JC, Carter NP, Castillo N, Chiara ECM, Chang S, Neil-Cooley R, Crake NR, Dada OO, Diakoumakos KD, Dominguez-Fernandez B, Earnshaw DJ, Egbujor UC, Elmore DW, Etchin SS, Ewan MR, Fedurco M, Fraser LJ, Fuentes-Fajardo KV, Scott-Furey W, George D, Gietzen KJ, Goddard CP, Golda GS, Granieri PA, Green DE, Gustafson DL, Hansen NF, Harnish K, Haudenschild CD, Heyer NI, Hims MM, Ho JT, Horgan AM, Hoschler K, Hurwitz S, Ivanov DV, Johnson MQ, James T, Huw-Jones TA, Kang GD, Kerelska TH, Kersey AD, Khrebtukova I, Kindwall AP, Kingsbury Z, Kokko Gonzales PI, Kumar A, Laurent MA, Lawley CT, Lee SE, Lee X, Liao AK, Loch JA, Lok M, Luo S, Mammen RM, Martin JW, McCauley PG, McNitt P, Mehta P, Moon KW, Mullens JW, Newington T, Ning Z, Ling-Ng B, Novo SM, O'Neill MJ, Osborne MA, Osnowski A, Ostadan O, Paraschos LL, Pickering L, Pike AC, Pike AC, Chris Pinkard D, Pliskin DP, Podhasky J, Quijano VJ, Raczy C, Rae VH, Rawlings SR, Chiva Rodriguez A, Roe PM, Rogers J, Rogert Bacigalupo MC, Romanov N, Romieu A, Roth RK, Rourke NJ, Ruediger ST, Rusman E, Sanches Kuiper RM, Schenker MR, Seoane JM, Shaw RJ, Shiver MK, Short SW, Sizto NL, Sluis JP, Smith MA, Ernest Sohna Sohna J, Spence EJ, Stevens K, Sutton N, Szajkowski L, Tregidgo CL, Turcatti G, Vandevondele S, Verhovsky Y, Virk SM, Wakelin S, Walcott GC, Wang J, Worsley GJ, Yan J, Yau L, Zuerlein M, Rogers J, Mullikin JC, Hurles ME, McCooke NJ, West JS, Oaks FL, Lundberg PL, Klenerman D, Durbin R, Smith AJ. Accurate whole human genome sequencing using reversible terminator chemistry. Nature. 2008; 456(7218):539.
  • 14
    Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009; 25(14):175460.
  • 15
    McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010; 20(9):1297303.
  • 16
    Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010; 38(16):e164.
  • 17
    Wang X, Wang S, Li C, Gao T, Liu Y, Rangiani A, Sun Y, Hao J, George A, Lu Y, Groppe J, Yuan B, Feng JQ, Qin C. Inactivation of a novel FGF23 regulator, FAM20C, leads to hypophosphatemic rickets in mice. PLoS Genet. 2012; 8(5):e1002708.
  • 18
    Econs MJ, McEnery PT. Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder. J Clin Endocrinol Metab. 1997; 82(2):67481.
  • 19
    Kruse K, Woelfel D, Strom TM. Loss of renal phosphate wasting in a child with autosomal dominant hypophosphatemic rickets caused by a FGF23 mutation. Hormone Res. 2001; 55(6):3058.
  • 20
    Imel EA, Hui SL, Econs MJ. FGF23 concentrations vary with disease status in autosomal dominant hypophosphatemic rickets. J Bone Miner Res. 2007; 22(4):5206.
  • 21
    Endo I, Fukumoto S, Ozono K, Namba N, Tanaka H, Inoue D, Minagawa M, Sugimoto T, Yamauchi M, Michigami T, Matsumoto T. Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23) in hypophosphatemic patients: proposal of diagnostic criteria using FGF23 measurement. Bone. 2008; 42(6):12359.
  • 22
    Imel EA, Peacock M, Pitukcheewanont P, Heller HJ, Ward LM, Shulman D, Kassem M, Rackoff P, Zimering M, Dalkin A, Drobny E, Colussi G, Shaker JL, Hoogendoorn EH, Hui SL, Econs MJ. Sensitivity of fibroblast growth factor 23 measurements in tumor-induced osteomalacia. J Clin Endocrinol Metab. 2006; 91(6):205561.
  • 23
    Simpson MA, Scheuerle A, Hurst J, Patton MA, Stewart H, Crosby AH. Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia. Clin Genet. 2009; 75(3):2716.
  • 24
    Raine J, Winter RM, Davey A, Tucker SM. Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis. J Med Genet. 1989; 26(12):7868.
  • 25
    Fradin M, Stoetzel C, Muller J, Koob M, Christmann D, Debry C, Kohler M, Isnard M, Astruc D, Desprez P, Zorres C, Flori E, Dollfus H, Doray B. Osteosclerotic bone dysplasia in siblings with a Fam20C mutation. Clin Genet. 2011; 80(2):17783.
  • 26
    Hao J, Narayanan K, Muni T, Ramachandran A, George A. Dentin matrix protein 4, a novel secretory calcium-binding protein that modulates odontoblast differentiation. J Biol Chem. 2007; 282(21):1535765.
  • 27
    Tagliabracci VS, Engel JL, Wen J, Wiley SE, Worby CA, Kinch LN, Xiao J, Grishin NV, Dixon JE. Secreted kinase phosphorylates extracellular proteins that regulate biomineralization. Science. 2012; 336(6085):11503.
  • 28
    Kawasaki K, Suzuki T, Weiss KM. Genetic basis for the evolution of vertebrate mineralized tissue. Proc Natl Acad Sci U.S.A. 2004; 101(31):1135661.
  • 29
    Barron MJ, McDonnell ST, Mackie I, Dixon MJ. Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia. Orphanet J Rare Dis. 2008; 3:31.
  • 30
    Rifas L, Cheng S, Halstead LR, Gupta A, Hruska KA, Avioli LV. Skeletal casein kinase activity defect in the HYP mouse. Calcif Tissue Int. 1997; 61(3):25629.
  • 31
    Simpson MA, Hsu R, Keir LS, Hao J, Sivapalan G, Ernst LM, Zackai EH, Al-Gazali LI, Hulskamp G, Kingston HM, Prescott TE, Ion A, Patton MA, Murday V, George A, Crosby AH. Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. Am J Hum Genet. 2007; 81(5):90612.
  • 32
    Kochar GS, Choudhary A, Gadodia A, Gupta N, Simpson MA, Crosby AH, Kabra M. Raine syndrome: a clinical, radiographic and genetic investigation of a case from the Indian subcontinent. Clin Dysmorphol. 2010; 19(3):1536.
  • 33
    Vogel P, Hansen GM, Read RW, Vance RB, Thiel M, Liu J, Wronski TJ, Smith DD, Jeter-Jones S, Brommage R. Amelogenesis Imperfecta and Other Biomineralization Defects in Fam20a and Fam20c Null Mice. Vet Pathol. 2012; 49(6):9981017.
  • 34
    Carpenter TO. The expanding family of hypophosphatemic syndromes. J Bone Miner Metab. 2012; 30(1):19.
  • 35
    Reid IR, Murphy WA, Hardy DC, Teitelbaum SL, Bergfeld MA, Whyte MP. X-linked hypophosphatemia: skeletal mass in adults assessed by histomorphometry, computed tomography, and absorptiometry. Am J Med. 1991; 90(1):639.
  • 36
    Marie PJ, Glorieux FH. Bone histomorphometry in asymptomatic adults with hereditary hypophosphatemic vitamin D-resistant osteomalacia. Metab Bone Dis Relat Res. 1982; 4(4):24953.
  • 37
    Makitie O, Pereira RC, Kaitila I, Turan S, Bastepe M, Laine T, Kroger H, Cole WG, Juppner H. Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation. J Bone Miner Res. 2010; 25(10):216574.
  • 38
    Harries LW, Brown JE, Gloyn AL. Species-specific differences in the expression of the HNF1A. HNF1B and HNF4A genes. PLoS One. 2009; 4(11):e7855.
  • 39
    Kan AE, Kozlowski K. New distinct lethal osteosclerotic bone dysplasia (Raine syndrome). Am J Med Genet. 1992; 43(5):8604.
  • 40
    Al Mane KA, Coates RK, McDonald P. Intracranial calcification in Raine syndrome. Pediatr Radiol. 1996; 26(1):558.
  • 41
    al-Mane K, al-Dayel F, McDonald P. Intracranial calcification in Raine syndrome: radiological pathological correlation. Pediatr Radiol. 1998; 28(11):8203.
  • 42
    Rejjal A. Raine syndrome. Am J Med Genet. 1998; 78(4):3825.
  • 43
    Shalev SA, Shalev E, Reich D, Borochowitz ZU. Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): further delineation. Am J Med Genet. 1999; 86(3):2747.
  • 44
    Rickert CH, Rieder H, Rehder H, Hulskamp G, Hornig-Franz I, Louwen F, Paulus W. Neuropathology of Raine syndrome. Acta Neuropathologica. 2002; 103(3):2817.
  • 45
    Al-Gazali LI, Jehier K, Nazih B, Abtin F, Haas D, Sadagahatian R. Further delineation of Raine syndrome. Clin Dysmorphol. 2003; 12(2):8993.
  • 46
    Hulskamp G, Wieczorek D, Rieder H, Louwen F, Hornig-Franz I, Rickert CH, Horst J, Harms E, Rehder H. Raine syndrome: report of a family with three affected sibs and further delineation of the syndrome. Clin Dysmorphol. 2003; 12(3):15360.
  • 47
    Gunes T, Kurtoglu S, Cetin N, Ozturk MA, Topaloglu N. Raine syndrome associated with cytomegalovirus infection. Turkish J Pediatr. 2005; 47(1):8991.
  • 48
    Chitayat D, Shannon P, Keating S, Toi A, Blaser S, Friedberg T, Superti-Furga A, Chong K, Unger S. Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis autopsy neuropathological findings. Am J Med Genet A. 2007; 143A(24):32805.
  • 49
    Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, de Oliveira JR, Sobrido MJ, Quintans B, Baquero M, Cui X, Zhang XY, Wang L, Xu H, Wang J, Yao J, Dai X, Liu J, Zhang L, Ma H, Gao Y, Ma X, Feng S, Liu M, Wang QK, Forster IC, Zhang X, Liu JY. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet. 2012; 44(3):2546.
  • 50
    Liang G, Katz LD, Insogna KL, Carpenter TO, Macica CM. Survey of the enthesopathy of X-linked hypophosphatemia and its characterization in Hyp mice. Calcif Tissue Int. 2009; 85(3):23546.
  • 51
    Saito T, Shimizu Y, Hori M, Taguchi M, Igarashi T, Fukumoto S, Fujitab T. A patient with hypophosphatemic rickets and ossification of posterior longitudinal ligament caused by a novel homozygous mutation in ENPP1 gene. Bone. 2011; 49(4):9136.
  • 52
    Wang J, Sinha T, Wynshaw-Boris A. Wnt signaling in mammalian development: lessons from mouse genetics. Cold Spring Harb Perspect Biol. 2012; 4(5). DOI:10.1101/cshperspect.a007963
  • 53
    Kouskoura T, Fragou N, Alexiou M, John N, Sommer L, Graf D, Katsaros C, Mitsiadis TA. The genetic basis of craniofacial and dental abnormalities. Schweiz Monatsschr Zahnmed. 2011; 121(7–8):63646.