메뉴 건너뛰기




Volumn 11, Issue 12, 2015, Pages 736-746

Short and tall stature: A new paradigm emerges

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN; ATRIAL NATRIURETIC FACTOR RECEPTOR; ATRIAL NATRIURETIC FACTOR RECEPTOR 2; BONE MORPHOGENETIC PROTEIN; CYTOKINE; ESTROGEN; FIBROBLAST GROWTH FACTOR; GLUCOCORTICOID; GROWTH HORMONE; NATRIURETIC PEPTIDE TYPE C; PARATHYROID HORMONE RELATED PROTEIN; RECOMBINANT GROWTH HORMONE; SOMATOMEDIN C; SONIC HEDGEHOG PROTEIN; THYROID HORMONE; UNCLASSIFIED DRUG; HUMAN GROWTH HORMONE;

EID: 84947618234     PISSN: 17595029     EISSN: 17595037     Source Type: Journal    
DOI: 10.1038/nrendo.2015.165     Document Type: Review
Times cited : (233)

References (149)
  • 1
    • 22744455032 scopus 로고    scopus 로고
    • The molecular basis of idiopathic short stature
    • Rosenfeld, R. G. The molecular basis of idiopathic short stature. Growth Horm. IGF Res. 15 (Suppl. A), S3-S5 (2005).
    • (2005) Growth Horm. IGF Res. , vol.15 , pp. S3-S5
    • Rosenfeld, R.G.1
  • 2
    • 0029150025 scopus 로고
    • Short stature and growth hormone deficiency
    • Hindmarsh, P. C. & Brook, C. G. Short stature and growth hormone deficiency. Clin. Endocrinol. (Oxf.). 43, 133-142 (1995).
    • (1995) Clin. Endocrinol. (Oxf.). , vol.43 , pp. 133-142
    • Hindmarsh, P.C.1    Brook, C.G.2
  • 4
    • 77952661532 scopus 로고    scopus 로고
    • The continuum of growth hormone-IGF-I axis defects causing short stature: Diagnostic and therapeutic challenges
    • Savage, M. O., Burren, C. P. & Rosenfeld, R. G. The continuum of growth hormone-IGF-I axis defects causing short stature: diagnostic and therapeutic challenges. Clin. Endocrinol. (Oxf.). 72, 721-728 (2010).
    • (2010) Clin. Endocrinol. (Oxf.). , vol.72 , pp. 721-728
    • Savage, M.O.1    Burren, C.P.2    Rosenfeld, R.G.3
  • 5
    • 0034042726 scopus 로고    scopus 로고
    • Growth hormone axis overview-somatomedin hypothesis
    • Daughaday, W. H. Growth hormone axis overview-somatomedin hypothesis. Pediatr. Nephrol. 14, 537-540 (2000).
    • (2000) Pediatr. Nephrol. , vol.14 , pp. 537-540
    • Daughaday, W.H.1
  • 6
    • 0017698712 scopus 로고
    • Estimation of somatomedin-C levels in normals and patients with pituitary disease by radioimmunoassay
    • Furlanetto, R. W., Underwood, L. E., Van Wyk, J. J. & D'Ercole, A. J. Estimation of somatomedin-C levels in normals and patients with pituitary disease by radioimmunoassay. J. Clin. Invest. 60, 648-657 (1977).
    • (1977) J. Clin. Invest. , vol.60 , pp. 648-657
    • Furlanetto, R.W.1    Underwood, L.E.2    Van Wyk, J.J.3    D'Ercole, A.J.4
  • 7
    • 2842602268 scopus 로고
    • The influence of blood glucose on the plasma concentration of growth hormone
    • Roth, J., Glick, S. M., Yalow, R. S. & Berson, S. A. The influence of blood glucose on the plasma concentration of growth hormone. Diabetes 13, 355-361 (1964).
    • (1964) Diabetes , vol.13 , pp. 355-361
    • Roth, J.1    Glick, S.M.2    Yalow, R.S.3    Berson, S.A.4
  • 8
    • 84947612421 scopus 로고    scopus 로고
    • 12th edn Ch. 24 (eds Melmed, S., Williams, R. H., Larsen, P. R. & Kronenberg, H.) (Elsevier/Saunders)
    • Cooke, D. S., Divall, S. A. & Radovick, S. in Williams Textbook of Endocrinology 12th edn Ch. 24 (eds Melmed, S., Williams, R. H., Larsen, P. R. & Kronenberg, H.) 959 (Elsevier/Saunders, 2011).
    • (2011) Williams Textbook of Endocrinology , pp. 959
    • Cooke, D.S.1    Divall, S.A.2    Radovick, S.3
  • 9
    • 39749140322 scopus 로고    scopus 로고
    • Idiopathic short stature: Definition, epidemiology, and diagnostic evaluation
    • Wit, J. M. et al. Idiopathic short stature: definition, epidemiology, and diagnostic evaluation. Growth Horm. IGF Res. 18, 89-110 (2008).
    • (2008) Growth Horm. IGF Res. , vol.18 , pp. 89-110
    • Wit, J.M.1
  • 10
    • 0033865827 scopus 로고    scopus 로고
    • Relationship between serum growth hormone binding protein levels and height in young men
    • Codner, E. et al. Relationship between serum growth hormone binding protein levels and height in young men. J. Pediatr. Endocrinol. Metab. 13, 887-892 (2000).
    • (2000) J. Pediatr. Endocrinol. Metab. , vol.13 , pp. 887-892
    • Codner, E.1
  • 11
    • 0033136788 scopus 로고    scopus 로고
    • Regular fluctuations in growth hormone (GH) release determine normal human growth
    • Gill, M. S. et al. Regular fluctuations in growth hormone (GH) release determine normal human growth. Growth Horm. IGF Res. 9, 114-122 (1999).
    • (1999) Growth Horm. IGF Res. , vol.9 , pp. 114-122
    • Gill, M.S.1
  • 12
    • 84884674855 scopus 로고    scopus 로고
    • Low incidence of pathology detection and high cost of screening in the evaluation of asymptomatic short children
    • Sisley, S., Trujillo, M. V., Khoury, J. & Backeljauw, P. Low incidence of pathology detection and high cost of screening in the evaluation of asymptomatic short children. J. Pediatr. 163, 1045-1051 (2013).
    • (2013) J. Pediatr. , vol.163 , pp. 1045-1051
    • Sisley, S.1    Trujillo, M.V.2    Khoury, J.3    Backeljauw, P.4
  • 14
    • 73249117063 scopus 로고    scopus 로고
    • Effect of body mass index on peak growth hormone response to provocative testing in children with short stature
    • Stanley, T. L., Levitsky, L. L., Grinspoon, S. K. & Misra, M. Effect of body mass index on peak growth hormone response to provocative testing in children with short stature. J. Clin. Endocrinol. Metab. 94, 4875.4881 (2009).
    • (2009) J. Clin. Endocrinol. Metab. , vol.94 , pp. 4875-4881
    • Stanley, T.L.1    Levitsky, L.L.2    Grinspoon, S.K.3    Misra, M.4
  • 15
    • 0027982091 scopus 로고
    • The effects of estrogen priming and puberty on the growth hormone response to standardized treadmill exercise and arginine-insulin in normal girls and boys
    • Marin, G. et al. The effects of estrogen priming and puberty on the growth hormone response to standardized treadmill exercise and arginine-insulin in normal girls and boys. J. Clin. Endocrinol. Metab. 79, 537.541 (1994).
    • (1994) J. Clin. Endocrinol. Metab. , vol.79 , pp. 537-541
    • Marin, G.1
  • 16
    • 0023759047 scopus 로고
    • The advantage of measuring stimulated as compared with spontaneous growth hormone levels in the diagnosis of growth hormone deficiency
    • Rose, S. R. et al. The advantage of measuring stimulated as compared with spontaneous growth hormone levels in the diagnosis of growth hormone deficiency. N. Engl. J. Med. 319, 201.207 (1988).
    • (1988) N. Engl. J. Med. , vol.319 , pp. 201-207
    • Rose, S.R.1
  • 17
    • 76149136557 scopus 로고    scopus 로고
    • Idiopathic short stature: Conundrums of definition and treatment
    • Rosenbloom, A. L. Idiopathic short stature: conundrums of definition and treatment. Int. J. Pediatr. Endocrinol. 2009, 470378 (2009).
    • (2009) Int. J. Pediatr. Endocrinol. , vol.2009 , pp. 470378
    • Rosenbloom, A.L.1
  • 18
    • 33644619432 scopus 로고    scopus 로고
    • Children with idiopathic short stature are poor eaters and have decreased body mass index
    • Wudy, S. A. et al. Children with idiopathic short stature are poor eaters and have decreased body mass index. Pediatrics 116, e52.e57 (2005).
    • (2005) Pediatrics , vol.116 , pp. e52-e57
    • Wudy, S.A.1
  • 20
    • 33646035837 scopus 로고    scopus 로고
    • Heterozygous mutations in natriuretic peptide receptor. B (NPR2) are associated with short stature
    • Olney, R. C. et al. Heterozygous mutations in natriuretic peptide receptor.B (NPR2) are associated with short stature. J. Clin. Endocrinol. Metab. 91, 1229.1232 (2006).
    • (2006) J. Clin. Endocrinol. Metab. , vol.91 , pp. 1229-1232
    • Olney, R.C.1
  • 21
    • 0038687536 scopus 로고    scopus 로고
    • Developmental regulation of the growth plate
    • Kronenberg, H. M. Developmental regulation of the growth plate. Nature 423, 332.336 (2003).
    • (2003) Nature , vol.423 , pp. 332-336
    • Kronenberg, H.M.1
  • 23
    • 77957947562 scopus 로고    scopus 로고
    • Hundreds of variants clustered in genomic loci and biological pathways affect human height
    • Lango Allen, H. et al. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 467, 832.838 (2010).
    • (2010) Nature , vol.467 , pp. 832-838
    • Lango Allen, H.1
  • 24
    • 2042475388 scopus 로고    scopus 로고
    • Insulin-like growth factor. i augments chondrocyte hypertrophy and reverses glucocorticoid-mediated growth retardation in fetal mice metatarsal cultures
    • Mushtaq, T., Bijman, P., Ahmed, S. F. & Farquharson, C. Insulin-like growth factor.I augments chondrocyte hypertrophy and reverses glucocorticoid-mediated growth retardation in fetal mice metatarsal cultures. Endocrinology 145, 2478.2486 (2004).
    • (2004) Endocrinology , vol.145 , pp. 2478-2486
    • Mushtaq, T.1    Bijman, P.2    Ahmed, S.F.3    Farquharson, C.4
  • 25
    • 0026661994 scopus 로고
    • Dexamethasone acts locally to inhibit longitudinal bone growth in rabbits
    • Baron, J., Huang, Z., Oerter, K. E., Bacher, J. D. & Cutler, G. B. Jr. Dexamethasone acts locally to inhibit longitudinal bone growth in rabbits. Am. J. Physiol. 263, E489.E492 (1992).
    • (1992) Am. J. Physiol. , vol.263 , pp. E489-E492
    • Baron, J.1    Huang, Z.2    Oerter, K.E.3    Bacher, J.D.4    Cutler, G.B.5
  • 26
    • 0028108203 scopus 로고
    • Prednisone dose limitation of growth hormone treatment of steroid-induced growth failure
    • Rivkees, S. A., Danon, M. & Herrin, J. Prednisone dose limitation of growth hormone treatment of steroid-induced growth failure. J. Pediatr. 125, 322.325 (1994).
    • (1994) J. Pediatr. , vol.125 , pp. 322-325
    • Rivkees, S.A.1    Danon, M.2    Herrin, J.3
  • 27
    • 38749083863 scopus 로고    scopus 로고
    • Thyroid hormone interacts with the Wnt/A-catenin signaling pathway in the terminal differentiation of growth plate chondrocytes
    • Wang, L., Shao, Y. Y. & Ballock, R. T. Thyroid hormone interacts with the Wnt/A-catenin signaling pathway in the terminal differentiation of growth plate chondrocytes. J. Bone Miner. Res. 22, 1988.1995 (2007).
    • (2007) J. Bone Miner. Res. , vol.22 , pp. 1988-1995
    • Wang, L.1    Shao, Y.Y.2    Ballock, R.T.3
  • 28
    • 27844602318 scopus 로고    scopus 로고
    • Thyroid hormones regulate fibroblast growth factor receptor signaling during chondrogenesis
    • Barnard, J. C. et al. Thyroid hormones regulate fibroblast growth factor receptor signaling during chondrogenesis. Endocrinology 146, 5568.5580 (2005).
    • (2005) Endocrinology , vol.146 , pp. 5568-5580
    • Barnard, J.C.1
  • 29
    • 23844475165 scopus 로고    scopus 로고
    • Sexual dimorphism of growth plate prehypertrophic and hypertrophic chondrocytes in response to testosterone requires metabolism to dihydrotestosterone (DHT) by steroid 5. Reductase type1
    • Raz, P., Nasatzky, E., Boyan, B. D., Ornoy, A. & Schwartz, Z. Sexual dimorphism of growth plate prehypertrophic and hypertrophic chondrocytes in response to testosterone requires metabolism to dihydrotestosterone (DHT) by steroid 5. reductase type 1. J. Cell. Biochem. 95, 108.119 (2005).
    • (2005) J. Cell. Biochem. , vol.95 , pp. 108-119
    • Raz, P.1    Nasatzky, E.2    Boyan, B.D.3    Ornoy, A.4    Schwartz, Z.5
  • 30
    • 0024378370 scopus 로고
    • Direct administration of testosterone increases rat tibial epiphyseal growth plate width
    • Ren, S. G. et al. Direct administration of testosterone increases rat tibial epiphyseal growth plate width. Acta Endocrinol. 121, 401.405 (1989).
    • (1989) Acta Endocrinol. , vol.121 , pp. 401-405
    • Ren, S.G.1
  • 31
    • 78049407016 scopus 로고    scopus 로고
    • The role of estrogen receptor in growth plate cartilage for longitudinal bone growth
    • Borjesson, A. E. et al. The role of estrogen receptor in growth plate cartilage for longitudinal bone growth. J. Bone Miner. Res. 25, 2690.2700 (2010).
    • (2010) J. Bone Miner. Res. , vol.25 , pp. 2690-2700
    • Borjesson, A.E.1
  • 32
    • 33244472357 scopus 로고    scopus 로고
    • Locally produced estrogen promotes fetal rat metatarsal bone growth; An effect mediated through increased chondrocyte proliferation and decreased apoptosis
    • Chagin, A. S., Chrysis, D., Takigawa, M., Ritzen, E. M. & Savendahl, L. Locally produced estrogen promotes fetal rat metatarsal bone growth; an effect mediated through increased chondrocyte proliferation and decreased apoptosis. J. Endocrinol. 188, 193.203 (2006).
    • (2006) J. Endocrinol. , vol.188 , pp. 193-203
    • Chagin, A.S.1    Chrysis, D.2    Takigawa, M.3    Ritzen, E.M.4    Savendahl, L.5
  • 33
    • 84876745133 scopus 로고    scopus 로고
    • Glucocorticoids and the regulation of growth hormone secretion
    • Mazziotti, G. & Giustina, A. Glucocorticoids and the regulation of growth hormone secretion. Nat. Rev. Endocrinol. 9, 265.276 (2013).
    • (2013) Nat. Rev. Endocrinol. , vol.9 , pp. 265-276
    • Mazziotti, G.1    Giustina, A.2
  • 34
    • 0025204578 scopus 로고
    • TSH secretion in Cushings syndrome: Relation to glucocorticoid excess, diabetes, goitre, and the sick euthyroid syndrome
    • Benker, G. et al. TSH secretion in Cushings syndrome: relation to glucocorticoid excess, diabetes, goitre, and the sick euthyroid syndrome. Clin. Endocrinol. 33, 777.786 (1990).
    • (1990) Clin. Endocrinol. , vol.33 , pp. 777-786
    • Benker, G.1
  • 35
    • 84905046569 scopus 로고    scopus 로고
    • Evidence that estrogen hastens epiphyseal fusion and cessation of longitudinal bone growth by irreversibly depleting the number of resting zone progenitor cells in female rabbits
    • Nilsson, O. et al. Evidence that estrogen hastens epiphyseal fusion and cessation of longitudinal bone growth by irreversibly depleting the number of resting zone progenitor cells in female rabbits. Endocrinology 155, 2892.2899 (2014).
    • (2014) Endocrinology , vol.155 , pp. 2892-2899
    • Nilsson, O.1
  • 36
    • 0035810995 scopus 로고    scopus 로고
    • Effects of estrogen on growth plate senescence and epiphyseal fusion
    • Weise, M. et al. Effects of estrogen on growth plate senescence and epiphyseal fusion. Proc. Natl Acad. Sci. USA 98, 6871.6876 (2001).
    • (2001) Proc. Natl Acad. Sci. USA , vol.98 , pp. 6871-6876
    • Weise, M.1
  • 37
    • 84880310849 scopus 로고    scopus 로고
    • Delayed puberty and estrogen resistance in a woman with estrogen receptor variant
    • Quaynor, S. D. et al. Delayed puberty and estrogen resistance in a woman with estrogen receptor variant. N. Engl. J. Med. 369, 164.171 (2013).
    • (2013) N. Engl. J. Med. , vol.369 , pp. 164-171
    • Quaynor, S.D.1
  • 38
    • 0028143234 scopus 로고
    • Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man
    • Smith, E. P. et al. Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man. N. Engl. J. Med. 331, 1056.1061 (1994).
    • (1994) N. Engl. J. Med. , vol.331 , pp. 1056-1061
    • Smith, E.P.1
  • 39
    • 0028792229 scopus 로고
    • Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens
    • Morishima, A., Grumbach, M. M., Simpson, E. R., Fisher, C. & Qin, K. Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. J. Clin. Endocrinol. Metab. 80, 3689.3698 (1995).
    • (1995) J. Clin. Endocrinol. Metab. , vol.80 , pp. 3689-3698
    • Morishima, A.1    Grumbach, M.M.2    Simpson, E.R.3    Fisher, C.4    Qin, K.5
  • 40
    • 58549105919 scopus 로고    scopus 로고
    • Update on the role of aromatase inhibitors in growth disorders
    • Dunkel, L. Update on the role of aromatase inhibitors in growth disorders. Horm. Res. 71 (Suppl. 1), 57.63 (2009).
    • (2009) Horm. Res. , vol.71 , pp. 57-63
    • Dunkel, L.1
  • 42
    • 1842582910 scopus 로고    scopus 로고
    • Expression of estrogen receptors and enzymes involved in sex steroid metabolism in the rat tibia during sexual maturation
    • van der Eerden, B. C., Lowik, C. W., Wit, J. M. & Karperien, M. Expression of estrogen receptors and enzymes involved in sex steroid metabolism in the rat tibia during sexual maturation. J. Endocrinol. 180, 457.467 (2004).
    • (2004) J. Endocrinol. , vol.180 , pp. 457-467
    • Van Der Eerden, B.C.1    Lowik, C.W.2    Wit, J.M.3    Karperien, M.4
  • 43
    • 84859633167 scopus 로고    scopus 로고
    • Pro-inflammatory cytokines produced by growth plate chondrocytes may act locally to modulate longitudinal bone growth
    • Fernandez-Vojvodich, P., Palmblad, K., Karimian, E., Andersson, U. & Savendahl, L. Pro-inflammatory cytokines produced by growth plate chondrocytes may act locally to modulate longitudinal bone growth. Horm. Res. Paediatr. 77, 180.187 (2012).
    • (2012) Horm. Res. Paediatr. , vol.77 , pp. 180-187
    • Fernandez-Vojvodich, P.1    Palmblad, K.2    Karimian, E.3    Andersson, U.4    Savendahl, L.5
  • 44
    • 84868124991 scopus 로고    scopus 로고
    • The effect of acute and chronic stress on growth
    • Savendahl, L. The effect of acute and chronic stress on growth. Sci. Signal 5, 9 (2012).
    • (2012) Sci. Signal , vol.5 , pp. 9
    • Savendahl, L.1
  • 46
    • 33646795652 scopus 로고    scopus 로고
    • The restricted potential for recovery of growth plate chondrogenesis and longitudinal bone growth following exposure to pro-inflammatory cytokines
    • MacRae, V. E., Farquharson, C. & Ahmed, S. F. The restricted potential for recovery of growth plate chondrogenesis and longitudinal bone growth following exposure to pro-inflammatory cytokines. J. Endocrinol. 189, 319.328 (2006).
    • (2006) J. Endocrinol. , vol.189 , pp. 319-328
    • MacRae, V.E.1    Farquharson, C.2    Ahmed, S.F.3
  • 47
    • 14244262341 scopus 로고    scopus 로고
    • Interleukin-1A and TNF-act in synergy to inhibit longitudinal growth in fetal rat metatarsal bones
    • Martensson, K., Chrysis, D. & Savendahl, L. Interleukin-1A and TNF-act in synergy to inhibit longitudinal growth in fetal rat metatarsal bones. J. Bone Miner. Res. 19, 1805.1812 (2004).
    • (2004) J. Bone Miner. Res. , vol.19 , pp. 1805-1812
    • Martensson, K.1    Chrysis, D.2    Savendahl, L.3
  • 49
    • 33748425885 scopus 로고    scopus 로고
    • Final height and gonad function after total body irradiation during childhood
    • Couto-Silva, A. C. et al. Final height and gonad function after total body irradiation during childhood. Bone Marrow Transplant. 38, 427.432 (2006).
    • (2006) Bone Marrow Transplant. , vol.38 , pp. 427-432
    • Couto-Silva, A.C.1
  • 50
    • 33745044025 scopus 로고    scopus 로고
    • Endochondral growth in growth plates of three species at two anatomical locations modulated by mechanical compression and tension
    • Stokes, I. A., Aronsson, D. D., Dimock, A. N., Cortright, V. & Beck, S. Endochondral growth in growth plates of three species at two anatomical locations modulated by mechanical compression and tension. J. Orthop. Res. 24, 1327.1334 (2006).
    • (2006) J. Orthop. Res. , vol.24 , pp. 1327-1334
    • Stokes, I.A.1    Aronsson, D.D.2    Dimock, A.N.3    Cortright, V.4    Beck, S.5
  • 51
  • 52
    • 84879915622 scopus 로고    scopus 로고
    • Guided growth for the treatment of limb length discrepancy: A comparative study of the three most commonly used surgical techniques
    • Lykissas, M. G. et al. Guided growth for the treatment of limb length discrepancy: A comparative study of the three most commonly used surgical techniques. J. Pediatr. Orthop. B 22, 311.317 (2013).
    • (2013) J. Pediatr. Orthop. B , vol.22 , pp. 311-317
    • Lykissas, M.G.1
  • 53
    • 0030832738 scopus 로고    scopus 로고
    • Does repetitive physical loading inhibit radial growth in female gymnasts?
    • Caine, D., Howe, W., Ross, W. & Bergman, G. Does repetitive physical loading inhibit radial growth in female gymnasts? Clin. J. Sport Med. 7, 302.308 (1997).
    • (1997) Clin. J. Sport Med. , vol.7 , pp. 302-308
    • Caine, D.1    Howe, W.2    Ross, W.3    Bergman, G.4
  • 54
    • 34347248067 scopus 로고    scopus 로고
    • FGF9 regulates early hypertrophic chondrocyte differentiation and skeletal vascularization in the developing stylopod
    • Hung, I. H., Yu, K., Lavine, K. J. & Ornitz, D. M. FGF9 regulates early hypertrophic chondrocyte differentiation and skeletal vascularization in the developing stylopod. Dev. Biol. 307, 300.313 (2007).
    • (2007) Dev. Biol. , vol.307 , pp. 300-313
    • Hung, I.H.1    Yu, K.2    Lavine, K.J.3    Ornitz, D.M.4
  • 55
    • 33846566729 scopus 로고    scopus 로고
    • Fibroblast growth factor expression in the postnatal growth plate
    • Lazarus, J. E., Hegde, A., Andrade, A. C., Nilsson, O. & Baron, J. Fibroblast growth factor expression in the postnatal growth plate. Bone 40, 577.586 (2007).
    • (2007) Bone , vol.40 , pp. 577-586
    • Lazarus, J.E.1    Hegde, A.2    Andrade, A.C.3    Nilsson, O.4    Baron, J.5
  • 56
    • 33846214070 scopus 로고    scopus 로고
    • FGF18 is required for early chondrocyte proliferation, hypertrophy and vascular invasion of the growth plate
    • Liu, Z., Lavine, K. J., Hung., I. H. & Ornitz, D. M. FGF18 is required for early chondrocyte proliferation, hypertrophy and vascular invasion of the growth plate. Dev. Biol. 302, 80.91 (2007).
    • (2007) Dev. Biol. , vol.302 , pp. 80-91
    • Liu, Z.1    Lavine, K.J.2    Hung, I.H.3    Ornitz, D.M.4
  • 57
    • 0031761852 scopus 로고    scopus 로고
    • Effects of fibroblast growth factor-2 on longitudinal bone growth
    • Mancilla, E. E., De Luca, F., Uyeda, J. A., Czerwiec, F. S. & Baron, J. Effects of fibroblast growth factor.2 on longitudinal bone growth. Endocrinology 139, 2900.2904 (1998).
    • (1998) Endocrinology , vol.139 , pp. 2900-2904
    • Mancilla, E.E.1    De Luca, F.2    Uyeda, J.A.3    Czerwiec, F.S.4    Baron, J.5
  • 58
    • 0035111399 scopus 로고    scopus 로고
    • Regulation of growth plate chondrogenesis by bone morphogenetic protein-2
    • De Luca, F. et al. Regulation of growth plate chondrogenesis by bone morphogenetic protein.2. Endocrinology 142, 430.436 (2001).
    • (2001) Endocrinology , vol.142 , pp. 430-436
    • De Luca, F.1
  • 59
    • 34247348274 scopus 로고    scopus 로고
    • Gradients in bone morphogenetic protein-related gene expression across the growth plate
    • Nilsson, O. et al. Gradients in bone morphogenetic protein-related gene expression across the growth plate. J. Endocrinol. 193, 75.84 (2007).
    • (2007) J. Endocrinol. , vol.193 , pp. 75-84
    • Nilsson, O.1
  • 60
    • 33751069567 scopus 로고    scopus 로고
    • BMP signaling in the cartilage growth plate
    • Pogue, R. & Lyons, K. BMP signaling in the cartilage growth plate. Curr. Top. Dev. Biol. 76, 1.48 (2006).
    • (2006) Curr. Top. Dev. Biol. , vol.76 , pp. 1-48
    • Pogue, R.1    Lyons, K.2
  • 61
    • 34047250505 scopus 로고    scopus 로고
    • Wnt gene expression in the post-natal growth plate: Regulation with chondrocyte differentiation
    • Andrade, A. C., Nilsson, O., Barnes, K. M. & Baron, J. Wnt gene expression in the post-natal growth plate: regulation with chondrocyte differentiation. Bone 40, 1361.1369 (2007).
    • (2007) Bone , vol.40 , pp. 1361-1369
    • Andrade, A.C.1    Nilsson, O.2    Barnes, K.M.3    Baron, J.4
  • 62
    • 84888286352 scopus 로고    scopus 로고
    • Regulation of cell polarity in the cartilage growth plate and perichondrium of metacarpal elements by HOXD13 and WNT5A
    • Kuss, P. et al. Regulation of cell polarity in the cartilage growth plate and perichondrium of metacarpal elements by HOXD13 and WNT5A. Dev. Biol. 385, 83.93 (2014).
    • (2014) Dev. Biol. , vol.385 , pp. 83-93
    • Kuss, P.1
  • 63
    • 84940229452 scopus 로고    scopus 로고
    • Recent insights into the regulation of the growth plate
    • Lui, J. C., Nilsson, O. & Baron, J. Recent insights into the regulation of the growth plate. J. Mol. Endocrinol. 53, T1.T9 (2014).
    • (2014) J. Mol. Endocrinol. , vol.53 , pp. T1-T9
    • Lui, J.C.1    Nilsson, O.2    Baron, J.3
  • 64
    • 0034464005 scopus 로고    scopus 로고
    • The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: The achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans
    • Vajo, Z., Francomano, C. A. & Wilkin, D. J. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: The achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr. Rev. 21, 23.39 (2000).
    • (2000) Endocr. Rev. , vol.21 , pp. 23-39
    • Vajo, Z.1    Francomano, C.A.2    Wilkin, D.J.3
  • 65
    • 84930599324 scopus 로고    scopus 로고
    • A novel variant of FGFR3 causes proportionate short stature
    • Kant, S. G. et al. A novel variant of FGFR3 causes proportionate short stature. Eur. J. Endocrinol. 172, 763.770 (2015).
    • (2015) Eur. J. Endocrinol. , vol.172 , pp. 763-770
    • Kant, S.G.1
  • 66
    • 33751082112 scopus 로고    scopus 로고
    • A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
    • Toydemir, R. M. et al. A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. Am. J. Hum. Genet. 79, 935.941 (2006).
    • (2006) Am. J. Hum. Genet. , vol.79 , pp. 935-941
    • Toydemir, R.M.1
  • 67
    • 84904419757 scopus 로고    scopus 로고
    • A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly
    • Makrythanasis, P. et al. A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly. Hum. Mutat. 35, 959.963 (2014).
    • (2014) Hum. Mutat. , vol.35 , pp. 959-963
    • Makrythanasis, P.1
  • 68
    • 11144358656 scopus 로고    scopus 로고
    • Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway
    • Yasoda, A. et al. Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway. Nat. Med. 10, 80.86 (2004).
    • (2004) Nat. Med. , vol.10 , pp. 80-86
    • Yasoda, A.1
  • 69
    • 0033151612 scopus 로고    scopus 로고
    • FGF signaling inhibits chondrocyte proliferation and regulates bone development through the STAT-1 pathway
    • Sahni, M. et al. FGF signaling inhibits chondrocyte proliferation and regulates bone development through the STAT.1 pathway. Genes Dev. 13, 1361.1366 (1999).
    • (1999) Genes Dev. , vol.13 , pp. 1361-1366
    • Sahni, M.1
  • 70
    • 0028073943 scopus 로고
    • Induction of growth plate cartilage ossification by basic fibroblast growth factor
    • Baron, J. et al. Induction of growth plate cartilage ossification by basic fibroblast growth factor. Endocrinology 135, 2790.2793 (1994).
    • (1994) Endocrinology , vol.135 , pp. 2790-2793
    • Baron, J.1
  • 71
    • 0033456159 scopus 로고    scopus 로고
    • Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis
    • Chen, L. et al. Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis. J. Clin. Invest. 104, 1517.1525 (1999).
    • (1999) J. Clin. Invest. , vol.104 , pp. 1517-1525
    • Chen, L.1
  • 72
    • 0036744820 scopus 로고    scopus 로고
    • Interaction of FGF Ihh/Pthlh, and BMP signaling integrates chondrocyte proliferation and hypertrophic differentiation
    • Minina, E., Kreschel, C., Naski, M. C., Ornitz, D. M. & Vortkamp, A. Interaction of FGF Ihh/Pthlh, and BMP signaling integrates chondrocyte proliferation and hypertrophic differentiation. Dev. Cell 3, 439.449 (2002).
    • (2002) Dev. Cell , vol.3 , pp. 439-449
    • Minina, E.1    Kreschel, C.2    Naski, M.C.3    Ornitz, D.M.4    Vortkamp, A.5
  • 73
    • 84857688284 scopus 로고    scopus 로고
    • Sixteen years and counting: The current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias
    • Foldynova-Trantirkova, S., Wilcox, W. R. & Krejci, P. Sixteen years and counting: The current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias. Hum. Mutat. 33, 29.41 (2012).
    • (2012) Hum. Mutat. , vol.33 , pp. 29-41
    • Foldynova-Trantirkova, S.1    Wilcox, W.R.2    Krejci, P.3
  • 74
    • 84940286327 scopus 로고    scopus 로고
    • Recent research on the growth plate: Advances in fibroblast growth factor signaling in growth plate development and disorders
    • Xie, Y., Zhou, S., Chen, H., Du, X. & Chen, L. Recent research on the growth plate: advances in fibroblast growth factor signaling in growth plate development and disorders. J. Mol. Endocrinol. 53, T11.T34 (2014).
    • (2014) J. Mol. Endocrinol. , vol.53 , pp. T11-T34
    • Xie, Y.1    Zhou, S.2    Chen, H.3    Du, X.4    Chen, L.5
  • 75
    • 77649235558 scopus 로고    scopus 로고
    • Deletion and point mutations of PTHLH cause brachydactyly type e
    • Klopocki, E. et al. Deletion and point mutations of PTHLH cause brachydactyly type E. Am. J. Hum. Genet. 86, 434.439 (2010).
    • (2010) Am. J. Hum. Genet. , vol.86 , pp. 434-439
    • Klopocki, E.1
  • 76
    • 0035957388 scopus 로고    scopus 로고
    • Dwarfism and early death in mice lacking C. Type natriuretic peptide
    • Chusho, H. et al. Dwarfism and early death in mice lacking C.type natriuretic peptide. Proc. Natl Acad. Sci. USA 98, 4016.4021 (2001).
    • (2001) Proc. Natl Acad. Sci. USA , vol.98 , pp. 4016-4021
    • Chusho, H.1
  • 77
    • 0033959846 scopus 로고    scopus 로고
    • Regulation of fetal rat bone growth by C. Type natriuretic peptide and cGMP
    • Mericq, V., Uyeda, J. A., Barnes, K. M., De Luca, F. & Baron, J. Regulation of fetal rat bone growth by C.type natriuretic peptide and cGMP. Pediatr. Res. 47, 189.193 (2000).
    • (2000) Pediatr. Res. , vol.47 , pp. 189-193
    • Mericq, V.1    Uyeda, J.A.2    Barnes, K.M.3    De Luca, F.4    Baron, J.5
  • 78
    • 34848916087 scopus 로고    scopus 로고
    • Natriuretic peptide: An important regulator of cartilage
    • Pejchalova, K., Krejci, P. & Wilcox, W. R. C.natriuretic peptide: an important regulator of cartilage. Mol. Genet. Metab. 92, 210.215 (2007).
    • (2007) Mol. Genet. Metab. , vol.92 , pp. 210-215
    • Pejchalova, K.1    Krejci, P.2    Wilcox, W.R.C.3
  • 79
    • 3042692632 scopus 로고    scopus 로고
    • Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux
    • Bartels, C. F. et al. Mutations in the transmembrane natriuretic peptide receptor NPR.B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am. J. Hum. Genet. 75, 27.34 (2004).
    • (2004) Am. J. Hum. Genet. , vol.75 , pp. 27-34
    • Bartels, C.F.1
  • 80
    • 84898407176 scopus 로고    scopus 로고
    • Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature
    • Amano, N. et al. Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature. J. Clin. Endocrinol. Metab. 99, E713.E718 (2014).
    • (2014) J. Clin. Endocrinol. Metab. , vol.99 , pp. E713-E718
    • Amano, N.1
  • 81
    • 84885237798 scopus 로고    scopus 로고
    • Heterozygous mutations in natriuretic peptide receptor. B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature
    • Vasques, G. A. et al. Heterozygous mutations in natriuretic peptide receptor.B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature. J. Clin. Endocrinol. Metab. 98, E1636.E1644 (2013).
    • (2013) J. Clin. Endocrinol. Metab. , vol.98 , pp. E1636-E1644
    • Vasques, G.A.1
  • 82
    • 84925934920 scopus 로고    scopus 로고
    • Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature
    • Wang, S. R. et al. Heterozygous mutations in natriuretic peptide receptor.B (NPR2) gene as a cause of short stature. Hum. Mutat. 36, 474.481 (2015).
    • (2015) Hum. Mutat. , vol.36 , pp. 474-481
    • Wang, S.R.1
  • 83
    • 34447307159 scopus 로고    scopus 로고
    • Overexpression of the C. Type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation
    • Bocciardi, R. et al. Overexpression of the C.type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation. Hum. Mutat. 28, 724.731 (2007).
    • (2007) Hum. Mutat. , vol.28 , pp. 724-731
    • Bocciardi, R.1
  • 84
    • 37049037748 scopus 로고    scopus 로고
    • A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype
    • Moncla, A. et al. A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype. Hum. Mutat. 28, 1183.1188 (2007).
    • (2007) Hum. Mutat. , vol.28 , pp. 1183-1188
    • Moncla, A.1
  • 85
    • 84889819902 scopus 로고    scopus 로고
    • An activating mutation in the kinase homology domain of the natriuretic peptide receptor-2 causes extremely tall stature without skeletal deformities
    • Hannema, S. E. et al. An activating mutation in the kinase homology domain of the natriuretic peptide receptor.2 causes extremely tall stature without skeletal deformities. J. Clin. Endocrinol. Metab. 98, E1988.E1998 (2013).
    • (2013) J. Clin. Endocrinol. Metab. , vol.98 , pp. E1988-E1998
    • Hannema, S.E.1
  • 86
    • 84890676798 scopus 로고    scopus 로고
    • Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor2 (NPR2) gene
    • Miura, K. et al. Overgrowth syndrome associated with a gain.of.function mutation of the natriuretic peptide receptor 2 (NPR2) gene. Am. J. Med. Genet. A 164A, 156.163 (2014).
    • (2014) Am. J. Med. Genet. A , vol.164 A , pp. 156-163
    • Miura, K.1
  • 87
    • 46049093360 scopus 로고    scopus 로고
    • Nitric oxide, C. Type natriuretic peptide and cGMP as regulators of endochondral ossification
    • Teixeira, C. C., Agoston, H. & Beier, F. Nitric oxide, C.type natriuretic peptide and cGMP as regulators of endochondral ossification. Dev. Biol. 319, 171.178 (2008).
    • (2008) Dev. Biol. , vol.319 , pp. 171-178
    • Teixeira, C.C.1    Agoston, H.2    Beier, F.3
  • 88
    • 0036720692 scopus 로고    scopus 로고
    • Cyclic GMP-dependent protein kinase II plays a critical role in C. Type natriuretic peptide-mediated endochondral ossification
    • Miyazawa, T. et al. Cyclic GMP-dependent protein kinase II plays a critical role in C.type natriuretic peptide-mediated endochondral ossification. Endocrinology 143, 3604.3610 (2002).
    • (2002) Endocrinology , vol.143 , pp. 3604-3610
    • Miyazawa, T.1
  • 89
    • 27944483696 scopus 로고    scopus 로고
    • Interaction of fibroblast growth factor and C. Natriuretic peptide signaling in regulation of chondrocyte proliferation and extracellular matrix homeostasis
    • Krejci, P. et al. Interaction of fibroblast growth factor and C.natriuretic peptide signaling in regulation of chondrocyte proliferation and extracellular matrix homeostasis. J. Cell Sci. 118, 5089.5100 (2005).
    • (2005) J. Cell Sci. , vol.118 , pp. 5089-5100
    • Krejci, P.1
  • 90
    • 67649672624 scopus 로고    scopus 로고
    • Systemic administration of C. Type natriuretic peptide as a novel therapeutic strategy for skeletal dysplasias
    • Yasoda, A. et al. Systemic administration of C.type natriuretic peptide as a novel therapeutic strategy for skeletal dysplasias. Endocrinology 150, 3138.3144 (2009).
    • (2009) Endocrinology , vol.150 , pp. 3138-3144
    • Yasoda, A.1
  • 91
    • 0037373277 scopus 로고    scopus 로고
    • Dysregulation of TGF-A activation contributes to pathogenesis in Marfan syndrome
    • Neptune, E. R. et al. Dysregulation of TGF-A activation contributes to pathogenesis in Marfan syndrome. Nat. Genet. 33, 407.411 (2003).
    • (2003) Nat. Genet. , vol.33 , pp. 407-411
    • Neptune, E.R.1
  • 92
    • 0028852659 scopus 로고
    • Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders
    • Dietz, H. C. & Pyeritz, R. E. Mutations in the human gene for fibrillin.1 (FBN1) in the Marfan syndrome and related disorders. Hum. Mol. Genet. 4, 1799.1809 (1995).
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1799-1809
    • Dietz, H.C.1    Pyeritz, R.E.2
  • 93
    • 45949092534 scopus 로고    scopus 로고
    • Angiotensin II blockade and aortic-root dilation in Marfans syndrome
    • Brooke, B. S. et al. Angiotensin II blockade and aortic-root dilation in Marfans syndrome. N. Engl. J. Med. 358, 2787.2795 (2008).
    • (2008) N. Engl. J. Med. , vol.358 , pp. 2787-2795
    • Brooke, B.S.1
  • 94
    • 2942538442 scopus 로고    scopus 로고
    • Ext1-dependent heparan sulfate regulates the range of Ihh signaling during endochondral ossification
    • Koziel, L., Kunath, M., Kelly, O. G. & Vortkamp, A. Ext1-dependent heparan sulfate regulates the range of Ihh signaling during endochondral ossification. Dev. Cell 6, 801.813 (2004).
    • (2004) Dev. Cell , vol.6 , pp. 801-813
    • Koziel, L.1    Kunath, M.2    Kelly, O.G.3    Vortkamp, A.4
  • 95
    • 84901394112 scopus 로고    scopus 로고
    • Heparan sulfate as a regulator of endochondral ossification and osteochondroma development
    • Jochmann, K., Bachvarova, V. & Vortkamp, A. Heparan sulfate as a regulator of endochondral ossification and osteochondroma development. Matrix Biol. 35, 239.247 (2014).
    • (2014) Matrix Biol. , vol.35 , pp. 239-247
    • Jochmann, K.1    Bachvarova, V.2    Vortkamp, A.3
  • 96
    • 0027282559 scopus 로고
    • A type X collagen mutation causes Schmid metaphyseal chondrodysplasia
    • Warman, M. L. et al. A type X collagen mutation causes Schmid metaphyseal chondrodysplasia. Nat. Genet. 5, 79.82 (1993).
    • (1993) Nat. Genet. , vol.5 , pp. 79-82
    • Warman, M.L.1
  • 97
    • 58049198280 scopus 로고    scopus 로고
    • A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C. Type lectin domain of aggrecan
    • Tompson, S. W. et al. A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C.type lectin domain of aggrecan. Am. J. Hum. Genet. 84, 72.79 (2009).
    • (2009) Am. J. Hum. Genet. , vol.84 , pp. 72-79
    • Tompson, S.W.1
  • 98
    • 23944438868 scopus 로고    scopus 로고
    • A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis
    • Gleghorn, L., Ramesar, R., Beighton, P. & Wallis, G. A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis. Am. J. Hum. Genet. 77, 484.490 (2005).
    • (2005) Am. J. Hum. Genet. , vol.77 , pp. 484-490
    • Gleghorn, L.1    Ramesar, R.2    Beighton, P.3    Wallis, G.4
  • 99
    • 76049108551 scopus 로고    scopus 로고
    • A missense mutation in the aggrecan C. Type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans
    • Stattin, E. L. et al. A missense mutation in the aggrecan C.type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans. Am. J. Hum. Genet. 86, 126.137 (2010).
    • (2010) Am. J. Hum. Genet. , vol.86 , pp. 126-137
    • Stattin, E.L.1
  • 100
    • 84905828577 scopus 로고    scopus 로고
    • Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations
    • Nilsson, O. et al. Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations. J. Clin. Endocrinol. Metab. 99, E1510.E1518 (2014).
    • (2014) J. Clin. Endocrinol. Metab. , vol.99 , pp. E1510-E1518
    • Nilsson, O.1
  • 101
    • 84920689471 scopus 로고    scopus 로고
    • Aggrecan is required for growth plate cytoarchitecture and differentiation
    • Lauing, K. L. et al. Aggrecan is required for growth plate cytoarchitecture and differentiation. Dev. Biol. 396, 224.236 (2014).
    • (2014) Dev. Biol. , vol.396 , pp. 224-236
    • Lauing, K.L.1
  • 102
    • 0141651924 scopus 로고    scopus 로고
    • Chondrodysplasia of gene knockout mice for aggrecan and link protein
    • Watanabe, H. & Yamada, Y. Chondrodysplasia of gene knockout mice for aggrecan and link protein. Glycoconj. J. 19, 269.273 (2002).
    • (2002) Glycoconj. J. , vol.19 , pp. 269-273
    • Watanabe, H.1    Yamada, Y.2
  • 103
    • 17344364096 scopus 로고    scopus 로고
    • Targeted disruption of the biglycan gene leads to an osteoporosis-like phenotype in mice
    • Xu, T. et al. Targeted disruption of the biglycan gene leads to an osteoporosis-like phenotype in mice. Nat. Genet. 20, 78.82 (1998).
    • (1998) Nat. Genet. , vol.20 , pp. 78-82
    • Xu, T.1
  • 104
    • 84868306933 scopus 로고    scopus 로고
    • Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions
    • Cain, S. A., McGovern, A., Baldwin, A. K., Baldock, C. & Kielty, C. M. Fibrillin.1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions. PLoS ONE 7, e48634 (2012).
    • (2012) PLoS ONE , vol.7 , pp. e48634
    • Cain, S.A.1    McGovern, A.2    Baldwin, A.K.3    Baldock, C.4    Kielty, C.M.5
  • 105
    • 80052431167 scopus 로고    scopus 로고
    • Unraveling the transcriptional regulatory machinery in chondrogenesis
    • Akiyama, H. & Lefebvre, V. Unraveling the transcriptional regulatory machinery in chondrogenesis. J. Bone Miner. Metab. 29, 390.395 (2011).
    • (2011) J. Bone Miner. Metab. , vol.29 , pp. 390-395
    • Akiyama, H.1    Lefebvre, V.2
  • 106
    • 4344560627 scopus 로고    scopus 로고
    • The short stature homeodomain protein SHOX induces cellular growth arrest and apoptosis and is expressed in human growth plate chondrocytes
    • Marchini, A. et al. The short stature homeodomain protein SHOX induces cellular growth arrest and apoptosis and is expressed in human growth plate chondrocytes. J. Biol. Chem. 279, 37103.37114 (2004).
    • (2004) J. Biol. Chem. , vol.279 , pp. 37103-37114
    • Marchini, A.1
  • 107
    • 84893127903 scopus 로고    scopus 로고
    • The sitting height/height ratio for age in healthy and short individuals and its potential role in selecting short children for SHOX analysis
    • Malaquias, A. C. et al. The sitting height/height ratio for age in healthy and short individuals and its potential role in selecting short children for SHOX analysis. Horm. Res. Paediatr. 80, 449.456 (2013).
    • (2013) Horm. Res. Paediatr. , vol.80 , pp. 449-456
    • Malaquias, A.C.1
  • 108
    • 79951797804 scopus 로고    scopus 로고
    • Short stature due to SHOX deficiency: Genotype, phenotype, and therapy
    • Binder, G. Short stature due to SHOX deficiency: genotype, phenotype, and therapy. Horm. Res. Paediatr. 75, 81.89 (2011).
    • (2011) Horm. Res. Paediatr. , vol.75 , pp. 81-89
    • Binder, G.1
  • 109
    • 77951758776 scopus 로고    scopus 로고
    • Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidy
    • Ottesen, A. M. et al. Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidy. Am. J. Med. Genet. A 152A, 1206.12 (2010).
    • (2010) Am. J. Med. Genet. A , vol.152 A , pp. 1206-1212
    • Ottesen, A.M.1
  • 110
    • 84904252088 scopus 로고    scopus 로고
    • RAF neighborhood: Protein-protein interaction in the Raf/Mek/Erk pathway
    • Cseh, B., Doma, E. & Baccarini, M. RAF neighborhood: Protein-protein interaction in the Raf/Mek/Erk pathway. FEBS Lett. 588, 2398.2406 (2014).
    • (2014) FEBS Lett , vol.588 , pp. 2398-2406
    • Cseh, B.1    Doma, E.2    Baccarini, M.3
  • 111
    • 80055098242 scopus 로고    scopus 로고
    • Spectrum of mutations in Noonan syndrome and their correlation with phenotypes
    • Lee, B. H. Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. J. Pediatr. 159, 1029.1035 (2011).
    • (2011) J. Pediatr. , vol.159 , pp. 1029-1035
    • Lee, B.H.1
  • 114
    • 57749101280 scopus 로고    scopus 로고
    • Stimulatory effects of insulin-like growth factor. i on growth plate chondrogenesis are mediated by nuclear factor-B p65
    • Wu, S., Fadoju, D., Rezvani, G. & De Luca, F. Stimulatory effects of insulin-like growth factor.I on growth plate chondrogenesis are mediated by nuclear factor-B p65. J. Biol. Chem. 283, 34037.34044 (2008).
    • (2008) J. Biol. Chem. , vol.283 , pp. 34037-34044
    • Wu, S.1    Fadoju, D.2    Rezvani, G.3    De Luca, F.4
  • 115
    • 77749239998 scopus 로고    scopus 로고
    • Growth hormone and insulin-like growth factor i insensitivity of fibroblasts isolated from a patient with an IB mutation
    • Wu, S. et al. Growth hormone and insulin-like growth factor I insensitivity of fibroblasts isolated from a patient with an IB mutation. J. Clin. Endocrinol. Metab. 95, 1220.1228 (2010).
    • (2010) J. Clin. Endocrinol. Metab. , vol.95 , pp. 1220-1228
    • Wu, S.1
  • 116
    • 80053642194 scopus 로고    scopus 로고
    • Mechanisms and pathways of growth failure in primordial dwarfism
    • Klingseisen, A. & Jackson, A. P. Mechanisms and pathways of growth failure in primordial dwarfism. Genes Dev. 25, 2011.2024 (2011).
    • (2011) Genes Dev. , vol.25 , pp. 2011-2024
    • Klingseisen, A.1    Jackson, A.P.2
  • 117
    • 27144498420 scopus 로고    scopus 로고
    • Identification of mutations in CUL7 in 3. M syndrome
    • Huber, C. et al. Identification of mutations in CUL7 in 3.M syndrome. Nat. Genet. 37, 1119.1124 (2005).
    • (2005) Nat. Genet. , vol.37 , pp. 1119-1124
    • Huber, C.1
  • 118
    • 66749123110 scopus 로고    scopus 로고
    • The primordial growth disorder 3. M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1x
    • Hanson, D. et al. The primordial growth disorder 3.M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. Am. J. Hum. Genet. 84, 801.806 (2009).
    • (2009) 1. Am. J. Hum. Genet. , vol.84 , pp. 801-806
    • Hanson, D.1
  • 119
    • 80051548898 scopus 로고    scopus 로고
    • Exome sequencing identifies CCDC8 mutations in 3. M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth
    • Hanson, D. et al. Exome sequencing identifies CCDC8 mutations in 3.M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth. Am. J. Hum. Genet. 89, 148.153 (2011).
    • (2011) Am. J. Hum. Genet. , vol.89 , pp. 148-153
    • Hanson, D.1
  • 120
    • 84901836016 scopus 로고    scopus 로고
    • The 3M complex maintains microtubule and genome integrity
    • Yan, J. et al. The 3M complex maintains microtubule and genome integrity. Mol. Cell 54, 791.804 (2014).
    • (2014) Mol. Cell , vol.54 , pp. 791-804
    • Yan, J.1
  • 121
    • 38949087294 scopus 로고    scopus 로고
    • Mutations in the pericentrin (PCNT) gene cause primordial dwarfism
    • Rauch, A. et al. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science 319, 816.819 (2008).
    • (2008) Science , vol.319 , pp. 816-819
    • Rauch, A.1
  • 122
    • 79953198187 scopus 로고    scopus 로고
    • Mutations in the pre-replication complex cause Meier-Gorlin syndrome
    • Bicknell, L. S. et al. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat. Genet. 43, 356.359 (2011).
    • (2011) Nat. Genet. , vol.43 , pp. 356-359
    • Bicknell, L.S.1
  • 123
    • 79953203480 scopus 로고    scopus 로고
    • Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome
    • Guernsey, D. L. et al. Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. Nat. Genet. 43, 360.364 (2011).
    • (2011) Nat. Genet. , vol.43 , pp. 360-364
    • Guernsey, D.L.1
  • 125
    • 84898057327 scopus 로고    scopus 로고
    • Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability
    • Tatton-Brown, K. et al. Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. Nat. Genet. 46, 385.388 (2014).
    • (2014) Nat. Genet. , vol.46 , pp. 385-388
    • Tatton-Brown, K.1
  • 126
    • 84855825406 scopus 로고    scopus 로고
    • Mutations in EZH2 cause Weaver syndrome
    • Gibson, W. T. et al. Mutations in EZH2 cause Weaver syndrome. Am. J. Hum. Genet. 90, 110.118 (2012).
    • (2012) Am. J. Hum. Genet. , vol.90 , pp. 110-118
    • Gibson, W.T.1
  • 127
    • 84905237250 scopus 로고    scopus 로고
    • Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways
    • Canton, A. P. et al. Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways. Eur. J. Endocrinol. 171, 253-262 (2014).
    • (2014) Eur. J. Endocrinol. , vol.171 , pp. 253-262
    • Canton, A.P.1
  • 128
    • 84898819456 scopus 로고    scopus 로고
    • Copy number variants in patients with short stature
    • van Duyvenvoorde, H. A. et al. Copy number variants in patients with short stature. Eur. J. Hum. Genet. 22, 602-609 (2014).
    • (2014) Eur. J. Hum. Genet. , vol.22 , pp. 602-609
    • Van Duyvenvoorde, H.A.1
  • 129
    • 84875975345 scopus 로고    scopus 로고
    • Rare copy number variants are a common cause of short stature
    • Zahnleiter, D. et al. Rare copy number variants are a common cause of short stature. PLoS Genet. 9, e1003365 (2013).
    • (2013) PLoS Genet. , vol.9 , pp. e1003365
    • Zahnleiter, D.1
  • 130
    • 84908890496 scopus 로고    scopus 로고
    • Defining the role of common variation in the genomic and biological architecture of adult human height
    • Wood, A. R. et al. Defining the role of common variation in the genomic and biological architecture of adult human height. Nat. Genet. 46, 1173-1186 (2014).
    • (2014) Nat. Genet. , vol.46 , pp. 1173-1186
    • Wood, A.R.1
  • 131
    • 84869073340 scopus 로고    scopus 로고
    • Synthesizing genome-wide association studies and expression microarray reveals novel genes that act in the human growth plate to modulate height
    • Lui, J. C. et al. Synthesizing genome-wide association studies and expression microarray reveals novel genes that act in the human growth plate to modulate height. Hum. Mol. Genet. 21, 5193-5201 (2012).
    • (2012) Hum. Mol. Genet. , vol.21 , pp. 5193-5201
    • Lui, J.C.1
  • 132
    • 84899656626 scopus 로고    scopus 로고
    • Common DNA variants predict tall stature in Europeans
    • Liu, F. et al. Common DNA variants predict tall stature in Europeans. Hum. Genet. 133, 587-597 (2014).
    • (2014) Hum. Genet. , vol.133 , pp. 587-597
    • Liu, F.1
  • 133
    • 39749151537 scopus 로고    scopus 로고
    • The ESPE classification of paediatric endocrine diagnoses
    • Wit, J. M., Ranke, M. B. & Kelnar, C. J. H. The ESPE classification of paediatric endocrine diagnoses. Horm. Res. 68 (Suppl. 2), 1-120 (2007).
    • (2007) Horm. Res. , vol.68 , pp. 1-120
    • Wit, J.M.1    Ranke, M.B.2    Kelnar, C.J.H.3
  • 134
    • 79951937731 scopus 로고    scopus 로고
    • New AIDS for the non-invasive prenatal diagnosis of achondroplasia: Dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma
    • Chitty, L. S. et al. New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma. Ultrasound Obstet. Gynecol. 37, 283-289 (2011).
    • (2011) Ultrasound Obstet. Gynecol. , vol.37 , pp. 283-289
    • Chitty, L.S.1
  • 135
    • 84877625937 scopus 로고    scopus 로고
    • Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA
    • Chitty, L. S. Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. Prenat. Diagn. 33, 416-423 (2013).
    • (2013) Prenat. Diagn. , vol.33 , pp. 416-423
    • Chitty, L.S.1
  • 137
    • 0037108028 scopus 로고    scopus 로고
    • Some chondrodysplasias with short limbs: Molecular perspectives
    • Cohen, M. M. Jr. Some chondrodysplasias with short limbs: molecular perspectives. Am. J. Med. Genet. 112, 304-313 (2002).
    • (2002) Am. J. Med. Genet. , vol.112 , pp. 304-313
    • Cohen, M.M.1
  • 138
    • 84866330085 scopus 로고    scopus 로고
    • PAPSS2 mutations cause autosomal recessive brachyolmia
    • Miyake, N. et al. PAPSS2 mutations cause autosomal recessive brachyolmia. J. Med. Genet. 49, 533-538 (2012).
    • (2012) J. Med. Genet. , vol.49 , pp. 533-538
    • Miyake, N.1
  • 139
    • 84927602585 scopus 로고    scopus 로고
    • PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation-in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations
    • Oostdijk, W. et al. PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation-in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations. J. Clin. Endocrinol. Metab. 100, E672-E680 (2015).
    • (2015) J. Clin. Endocrinol. Metab. , vol.100 , pp. E672-E680
    • Oostdijk, W.1
  • 141
    • 84881489852 scopus 로고    scopus 로고
    • Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature
    • Wang, S. R. et al. Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature. J. Clin. Endocrinol. Metab. 98, E1428-E1437 (2013).
    • (2013) J. Clin. Endocrinol. Metab. , vol.98 , pp. E1428-E1437
    • Wang, S.R.1
  • 142
    • 33846056188 scopus 로고    scopus 로고
    • Growth hormone is effective in treatment of short stature associated with short stature homeobox-containing gene deficiency: Two-year results of a randomized, controlled, multicenter trial
    • Blum, W. F. et al. Growth hormone is effective in treatment of short stature associated with short stature homeobox-containing gene deficiency: Two-year results of a randomized, controlled, multicenter trial. J. Clin. Endocrinol. Metab. 92, 219-228 (2007).
    • (2007) J. Clin. Endocrinol. Metab. , vol.92 , pp. 219-228
    • Blum, W.F.1
  • 143
    • 0034881311 scopus 로고    scopus 로고
    • Growth hormone treatment in children with Noonan's syndrome: Four year results of a partly controlled trial
    • Noordam, C., Van der Burgt, I., Sengers, R. C., Delemarre-van de Waal, H. A. & Otten, B. J. Growth hormone treatment in children with Noonan's syndrome: four year results of a partly controlled trial. Acta Paediatr. 90, 889-894 (2001).
    • (2001) Acta Paediatr. , vol.90 , pp. 889-894
    • Noordam, C.1    Van Der Burgt, I.2    Sengers, R.C.3    Delemarre-Van De Waal, H.A.4    Otten, B.J.5
  • 144
    • 57349180874 scopus 로고    scopus 로고
    • Dose-dependent effect of growth hormone on final height in children with short stature without growth hormone deficiency
    • Albertsson-Wikland, K. et al. Dose-dependent effect of growth hormone on final height in children with short stature without growth hormone deficiency. J. Clin. Endocrinol. Metab. 93, 4342-4350 (2008).
    • (2008) J. Clin. Endocrinol. Metab. , vol.93 , pp. 4342-4350
    • Albertsson-Wikland, K.1
  • 145
    • 3242699910 scopus 로고    scopus 로고
    • Effect of growth hormone treatment on adult height in peripubertal children with idiopathic short stature: A randomized, double-blind, placebo-controlled trial
    • Leschek, E. W. et al. Effect of growth hormone treatment on adult height in peripubertal children with idiopathic short stature: A randomized, double-blind, placebo-controlled trial. J. Clin. Endocrinol. Metab. 89, 3140-3148 (2004).
    • (2004) J. Clin. Endocrinol. Metab. , vol.89 , pp. 3140-3148
    • Leschek, E.W.1
  • 146
    • 84919360657 scopus 로고    scopus 로고
    • Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation
    • Trivellin, G. et al. Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N. Engl. J. Med. 371, 2363-2374 (2014).
    • (2014) N. Engl. J. Med. , vol.371 , pp. 2363-2374
    • Trivellin, G.1
  • 147
    • 0028331261 scopus 로고
    • Differential effects of insulin-like growth factor i and growth hormone on developmental stages of rat growth plate chondrocytes in vivo
    • Hunziker, E. B., Wagner, J. & Zapf, J. Differential effects of insulin-like growth factor I and growth hormone on developmental stages of rat growth plate chondrocytes in vivo. J. Clin. Invest. 93, 1078-1086 (1994).
    • (1994) J. Clin. Invest. , vol.93 , pp. 1078-1086
    • Hunziker, E.B.1    Wagner, J.2    Zapf, J.3
  • 148
    • 22544458213 scopus 로고    scopus 로고
    • Growth plate senescence is associated with loss of DNA methylation
    • Nilsson, O. et al. Growth plate senescence is associated with loss of DNA methylation. J. Endocrinol. 186, 241-249 (2005).
    • (2005) J. Endocrinol. , vol.186 , pp. 241-249
    • Nilsson, O.1
  • 149
    • 1542301428 scopus 로고    scopus 로고
    • Evidence supporting dual, IGF-I-independent and IGF-I-dependent, roles for GH in promoting longitudinal bone growth
    • Wang, J., Zhou, J., Cheng, C. M., Kopchick, J. J. & Bondy, C. A. Evidence supporting dual, IGF-I-independent and IGF-I-dependent, roles for GH in promoting longitudinal bone growth. J. Endocrinol. 180, 247-255 (2004).
    • (2004) J. Endocrinol. , vol.180 , pp. 247-255
    • Wang, J.1    Zhou, J.2    Cheng, C.M.3    Kopchick, J.J.4    Bondy, C.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.