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Volumn 58, Issue 8, 2011, Pages 433-442

The role of the SHOX gene in the pathophysiology of Turner syndrome

Author keywords

Haploinsufficiency; Hearing loss; Short stature; SHOX gene; Turner syndrome

Indexed keywords

FIBROBLAST GROWTH FACTOR 3; GROWTH HORMONE;

EID: 80053582761     PISSN: 15750922     EISSN: 15792021     Source Type: Journal    
DOI: 10.1016/j.endonu.2011.06.005     Document Type: Short Survey
Times cited : (39)

References (55)
  • 1
    • 58549102320 scopus 로고    scopus 로고
    • Turner syndrome-2008
    • Bondy C.A. Turner syndrome-2008. Horm Res 2009, 71:52-56.
    • (2009) Horm Res , vol.71 , pp. 52-56
    • Bondy, C.A.1
  • 2
    • 77951632774 scopus 로고    scopus 로고
    • Approach to the patient with Turner syndrome
    • Davenport M.L. Approach to the patient with Turner syndrome. J Clin Endocrinol Metab 2010, 95:1487-1495.
    • (2010) J Clin Endocrinol Metab , vol.95 , pp. 1487-1495
    • Davenport, M.L.1
  • 5
    • 33744811403 scopus 로고    scopus 로고
    • Optimizing management in Turner syndrome: from infancy to adult transfer
    • Donaldson M.D.C., Gault E.J., Tan K.W., Dunger D.B. Optimizing management in Turner syndrome: from infancy to adult transfer. Arch Dis Chil 2006, 96:513-520.
    • (2006) Arch Dis Chil , vol.96 , pp. 513-520
    • Donaldson, M.D.C.1    Gault, E.J.2    Tan, K.W.3    Dunger, D.B.4
  • 11
    • 66249103632 scopus 로고    scopus 로고
    • SHOX gene is expressed in vertebral body growth plates in idiopathic and congenital scoliosis: implications for the etiology of scoliosis in Turner syndrome
    • Day G., Szvetko A., Griffiths L., McPhee I.B., Tuffley J., LaBrom R., et al. SHOX gene is expressed in vertebral body growth plates in idiopathic and congenital scoliosis: implications for the etiology of scoliosis in Turner syndrome. J Orthop Res 2009, 27:807-813.
    • (2009) J Orthop Res , vol.27 , pp. 807-813
    • Day, G.1    Szvetko, A.2    Griffiths, L.3    McPhee, I.B.4    Tuffley, J.5    LaBrom, R.6
  • 12
    • 0020059758 scopus 로고
    • Clinical and cytogenetic aspects of X-chromosome deletions
    • Goldman B., Polani P.E., Daker M.G., Angeli R.R. Clinical and cytogenetic aspects of X-chromosome deletions. Clin Genet 1982, 21:36-52.
    • (1982) Clin Genet , vol.21 , pp. 36-52
    • Goldman, B.1    Polani, P.E.2    Daker, M.G.3    Angeli, R.R.4
  • 13
    • 0026651696 scopus 로고
    • Short stature in a girl with terminal Xp deletion distal to DXYS15: localization of a growth gene(s) in the pseudoautosomal region
    • Ogata T., Goodfellow P., Petit C., Aya M., Matsuo N. Short stature in a girl with terminal Xp deletion distal to DXYS15: localization of a growth gene(s) in the pseudoautosomal region. J Med Genet 1992, 29:455-459.
    • (1992) J Med Genet , vol.29 , pp. 455-459
    • Ogata, T.1    Goodfellow, P.2    Petit, C.3    Aya, M.4    Matsuo, N.5
  • 15
    • 72749122013 scopus 로고    scopus 로고
    • Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250kb downstream regulatory domain
    • Chen J., Wildhardt G., Zhong Z., Röth R., Weiss B., Steinberger D., et al. Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250kb downstream regulatory domain. J Med Genet 2009, 46:834-839.
    • (2009) J Med Genet , vol.46 , pp. 834-839
    • Chen, J.1    Wildhardt, G.2    Zhong, Z.3    Röth, R.4    Weiss, B.5    Steinberger, D.6
  • 16
    • 23344443566 scopus 로고    scopus 로고
    • Microdeletion in the SHOX 3′ region associated with skeletal phenotypes of Langer mesomeli dysplasia in a 45,X/46,X,r(X) infant and Leri-Weil dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer
    • Fukami M., Okuyama T., Yamamori S., Nishimura G., Ogata T. Microdeletion in the SHOX 3′ region associated with skeletal phenotypes of Langer mesomeli dysplasia in a 45,X/46,X,r(X) infant and Leri-Weil dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer. Am J Med Genet 2005, 137:72-76.
    • (2005) Am J Med Genet , vol.137 , pp. 72-76
    • Fukami, M.1    Okuyama, T.2    Yamamori, S.3    Nishimura, G.4    Ogata, T.5
  • 17
    • 34248379653 scopus 로고    scopus 로고
    • Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency
    • Rappold G., Blum W.F., Shavrikova E.P., Crowe B.J., Roeth R., Quigley C.A., et al. Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency. J Med Genet 2007, 44:306-313.
    • (2007) J Med Genet , vol.44 , pp. 306-313
    • Rappold, G.1    Blum, W.F.2    Shavrikova, E.P.3    Crowe, B.J.4    Roeth, R.5    Quigley, C.A.6
  • 18
    • 39049194936 scopus 로고    scopus 로고
    • Short stature and dysmorphology associated with defects in the SHOX gene
    • Leka S.K., Kitsiou-Tzeli S., Kalpini-Mavrou A., Kanavakis E. Short stature and dysmorphology associated with defects in the SHOX gene. Hormones 2006, 5:107-118.
    • (2006) Hormones , vol.5 , pp. 107-118
    • Leka, S.K.1    Kitsiou-Tzeli, S.2    Kalpini-Mavrou, A.3    Kanavakis, E.4
  • 21
    • 79955751499 scopus 로고    scopus 로고
    • Functional redundancy between human SHOX and mouse Shox2 in the regulation of sinoatrial node formation and pacemaking function
    • Liu H., Chen C.H., Espinoza-Lewis R.A., Jiao Z., Sheu I., Hu X., et al. Functional redundancy between human SHOX and mouse Shox2 in the regulation of sinoatrial node formation and pacemaking function. J Biol Chem 2011, 19:17029-17038.
    • (2011) J Biol Chem , vol.19 , pp. 17029-17038
    • Liu, H.1    Chen, C.H.2    Espinoza-Lewis, R.A.3    Jiao, Z.4    Sheu, I.5    Hu, X.6
  • 22
    • 79952917725 scopus 로고    scopus 로고
    • Alternative splicing and nonsense-mediated RNA decay contribute to the regulation of SHOX expression
    • Durand C., Roeth R., Dweep H., Vlatkovic I., Decker E., Schneider K.U., et al. Alternative splicing and nonsense-mediated RNA decay contribute to the regulation of SHOX expression. PLoS ONE 2011, 6:e18115.
    • (2011) PLoS ONE , vol.6
    • Durand, C.1    Roeth, R.2    Dweep, H.3    Vlatkovic, I.4    Decker, E.5    Schneider, K.U.6
  • 23
    • 0035894660 scopus 로고    scopus 로고
    • The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activador
    • Rao R., Blaschke R.J., Marchini A., Niesler B., Burnett M., Rappold G.A. The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activador. Hum Mol Genet 2001, 10:3083-3091.
    • (2001) Hum Mol Genet , vol.10 , pp. 3083-3091
    • Rao, R.1    Blaschke, R.J.2    Marchini, A.3    Niesler, B.4    Burnett, M.5    Rappold, G.A.6
  • 24
    • 59749086990 scopus 로고    scopus 로고
    • Height gains in response to growth hormone treatment to final height are similar in patients with SHOX deficiency and Turner syndrome
    • Blum W.F., Cao D., Hesse V., Fricke-Otto S., Ross J.L., Jones C., et al. Height gains in response to growth hormone treatment to final height are similar in patients with SHOX deficiency and Turner syndrome. Horm Res 2009, 71:167-172.
    • (2009) Horm Res , vol.71 , pp. 167-172
    • Blum, W.F.1    Cao, D.2    Hesse, V.3    Fricke-Otto, S.4    Ross, J.L.5    Jones, C.6
  • 25
    • 17144464108 scopus 로고    scopus 로고
    • The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome
    • Clement-Jones M., Schiller S., Rao E., Blaschke R.J., Zuniga A., Zeller R., et al. The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Hum Mol Genet 2000, 9:695-702.
    • (2000) Hum Mol Genet , vol.9 , pp. 695-702
    • Clement-Jones, M.1    Schiller, S.2    Rao, E.3    Blaschke, R.J.4    Zuniga, A.5    Zeller, R.6
  • 26
    • 84881613592 scopus 로고    scopus 로고
    • SHOX-related haploinsufficiency disorders
    • University of Washington, Seattle, Seattle, Washington, [Initial posting: Dec 12, Last revision: Feb 1, 2008], R.A. Pagon, T.C. Bird, C.R. Dolan, K. Stephens (Eds.)
    • Munns G., Glass I. SHOX-related haploinsufficiency disorders. GeneReviews [Internet] 2005, University of Washington, Seattle, Seattle, Washington, [Initial posting: Dec 12, Last revision: Feb 1, 2008]. R.A. Pagon, T.C. Bird, C.R. Dolan, K. Stephens (Eds.).
    • (2005) GeneReviews [Internet]
    • Munns, G.1    Glass, I.2
  • 27
    • 0035654569 scopus 로고    scopus 로고
    • Editorial: a SHOX to the system
    • Rosenfield R. Editorial: a SHOX to the system. J Clin Endocrinol Metab 2001, 86:5672-5673.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 5672-5673
    • Rosenfield, R.1
  • 28
    • 78049345913 scopus 로고    scopus 로고
    • SHOX2 DNA methylation is a biomarker for the diagnosis of lung cancer based on bronchial aspirates
    • Schmidt B., Liebenberg V., Dietrich D., Schlegel T., Kneip C., Seegebarth A., et al. SHOX2 DNA methylation is a biomarker for the diagnosis of lung cancer based on bronchial aspirates. BMC Cancer 2010, 10:1-9.
    • (2010) BMC Cancer , vol.10 , pp. 1-9
    • Schmidt, B.1    Liebenberg, V.2    Dietrich, D.3    Schlegel, T.4    Kneip, C.5    Seegebarth, A.6
  • 29
    • 79151473369 scopus 로고    scopus 로고
    • Shox2 function couples neural, muscular and skeletal development in the proximal forelimb
    • Vickerman L., Neufeld S., Cobb J. Shox2 function couples neural, muscular and skeletal development in the proximal forelimb. Dev Biol 2011, 350:323-336.
    • (2011) Dev Biol , vol.350 , pp. 323-336
    • Vickerman, L.1    Neufeld, S.2    Cobb, J.3
  • 30
    • 0346220283 scopus 로고    scopus 로고
    • Transcriptional and translational regulation of the Leri-Weill and Turner Syndrome homeobox gene SHOX
    • Blaschke R.J., Töpfer C., Marchini A., Steinbeisser H., Janssen J.W.G., Rappold G.A. Transcriptional and translational regulation of the Leri-Weill and Turner Syndrome homeobox gene SHOX. J Biol Chem 2003, 278:47820-47826.
    • (2003) J Biol Chem , vol.278 , pp. 47820-47826
    • Blaschke, R.J.1    Töpfer, C.2    Marchini, A.3    Steinbeisser, H.4    Janssen, J.W.G.5    Rappold, G.A.6
  • 31
    • 36248998258 scopus 로고    scopus 로고
    • BNP is a transcriptional target of the short stature homeobox gene SHOX
    • Marchini A., Häcker B., Marttila T., Hesse V., Emons J., Weiss B., et al. BNP is a transcriptional target of the short stature homeobox gene SHOX. Hum Mol Genet 2007, 16:3081-3087.
    • (2007) Hum Mol Genet , vol.16 , pp. 3081-3087
    • Marchini, A.1    Häcker, B.2    Marttila, T.3    Hesse, V.4    Emons, J.5    Weiss, B.6
  • 32
    • 79953111544 scopus 로고    scopus 로고
    • FGFR3 is a target of the homeobox transcription factor SHOX in limb development
    • Decker E., Durand C., Bender S., Rödelsperger C., Glaser A., Hecht J., et al. FGFR3 is a target of the homeobox transcription factor SHOX in limb development. Hum Mol Genet 2011, 20:1524-1535.
    • (2011) Hum Mol Genet , vol.20 , pp. 1524-1535
    • Decker, E.1    Durand, C.2    Bender, S.3    Rödelsperger, C.4    Glaser, A.5    Hecht, J.6
  • 33
    • 77953553227 scopus 로고    scopus 로고
    • Severe SHOX gene haploinsufficiency in a girl with a novel mutation (M1T) involving the first codon of coding region
    • Wasniewska M., Raiola G., Nicoletti A., Galati M.C., Messina M.F., Mirabelli S., et al. Severe SHOX gene haploinsufficiency in a girl with a novel mutation (M1T) involving the first codon of coding region. J Endocrinol Invest 2010, 33:282-283.
    • (2010) J Endocrinol Invest , vol.33 , pp. 282-283
    • Wasniewska, M.1    Raiola, G.2    Nicoletti, A.3    Galati, M.C.4    Messina, M.F.5    Mirabelli, S.6
  • 34
    • 0242351788 scopus 로고    scopus 로고
    • Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature
    • Binder G., Ranke M., Martin D. Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature. J Clin Endocrinol Metab 2003, 88:4403-4408.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 4403-4408
    • Binder, G.1    Ranke, M.2    Martin, D.3
  • 35
    • 67649869569 scopus 로고    scopus 로고
    • Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature
    • Thomas N.S., Harvey J.F., Nunyan D.J., Rankin J., Grigelioniene G., Bruno D.L., et al. Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature. Am J Med Genet 2009, 149A:1407-1414.
    • (2009) Am J Med Genet , vol.149 A , pp. 1407-1414
    • Thomas, N.S.1    Harvey, J.F.2    Nunyan, D.J.3    Rankin, J.4    Grigelioniene, G.5    Bruno, D.L.6
  • 36
    • 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 2011, 75:81-89.
    • (2011) Horm Res Paediatr , vol.75 , pp. 81-89
    • Binder, G.1
  • 37
    • 77954514549 scopus 로고    scopus 로고
    • Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region
    • D'haene B., Hellemans J., Craen M., De Schepper J., Devriendt K., Fryns J.P., et al. Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region. J Clin Endocrinol Metab 2010, 95:3010-3018.
    • (2010) J Clin Endocrinol Metab , vol.95 , pp. 3010-3018
    • D'haene, B.1    Hellemans, J.2    Craen, M.3    De Schepper, J.4    Devriendt, K.5    Fryns, J.P.6
  • 38
    • 77951292393 scopus 로고    scopus 로고
    • Hormones and genes of importance in bone physiology and their influence on bone mineralization and growth in Turner syndrome
    • Andrade A.C., Baron J., Manolagas S.C., Shaw N.J., Rappold G.A., Donaldson M.D., et al. Hormones and genes of importance in bone physiology and their influence on bone mineralization and growth in Turner syndrome. Horm Res Paediatr 2010, 73:161-165.
    • (2010) Horm Res Paediatr , vol.73 , pp. 161-165
    • Andrade, A.C.1    Baron, J.2    Manolagas, S.C.3    Shaw, N.J.4    Rappold, G.A.5    Donaldson, M.D.6
  • 40
    • 78649357926 scopus 로고    scopus 로고
    • Turner syndrome
    • Saunders Elsevier, Philadelphia, M.A. Sperling (Ed.)
    • Saenger P. Turner syndrome. Pediatric endocrinology 2008, 610-661. Saunders Elsevier, Philadelphia. 3rd ed. M.A. Sperling (Ed.).
    • (2008) Pediatric endocrinology , pp. 610-661
    • Saenger, P.1
  • 42
    • 2442641275 scopus 로고    scopus 로고
    • Statural growth in 31 Japanese patients with SHOX haploinsufficiency: support of a disadvantageous effect of gonadal estrogens
    • Fukami M., Nishi Y., Hasegawa Y., Miyoshi Y., Okabe T., Haga N., et al. Statural growth in 31 Japanese patients with SHOX haploinsufficiency: support of a disadvantageous effect of gonadal estrogens. Endocr J 2004, 51:197-200.
    • (2004) Endocr J , vol.51 , pp. 197-200
    • Fukami, M.1    Nishi, Y.2    Hasegawa, Y.3    Miyoshi, Y.4    Okabe, T.5    Haga, N.6
  • 43
    • 33749245482 scopus 로고    scopus 로고
    • High incidence of SHOX anomalies in individuals with short stature
    • GeNeSIS Module
    • Huber C., Rosilio M., Munnich A., Cormier-Daire V., French S.H.O.X. High incidence of SHOX anomalies in individuals with short stature. J Med Gene 2006, 43:735-739. GeNeSIS Module.
    • (2006) J Med Gene , vol.43 , pp. 735-739
    • Huber, C.1    Rosilio, M.2    Munnich, A.3    Cormier-Daire, V.4    French, S.H.O.X.5
  • 44
    • 0033305653 scopus 로고    scopus 로고
    • Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome
    • Kosho T., Muroya K., Nagai T., Fujimoto M., Yokoya S., Sakamoto H., et al. Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome. J Clin Endocrinol Metab 1999, 84:4613-4621.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 4613-4621
    • Kosho, T.1    Muroya, K.2    Nagai, T.3    Fujimoto, M.4    Yokoya, S.5    Sakamoto, H.6
  • 45
    • 72849153490 scopus 로고    scopus 로고
    • Madelung deformity with Vickers ligament. Pediatr Radiol. Published online: 20 may 2009. doi:10.1007/s00247-009-1293-7
    • Kim HK. Madelung deformity with Vickers ligament. Pediatr Radiol. Published online: 20 may 2009. doi:10.1007/s00247-009-1293-7.
    • Kim, H.K.1
  • 46
    • 70350061977 scopus 로고    scopus 로고
    • High resolution 3.0 Tesla MR imaging findings in patients with bilateral Madelung's deformity
    • Stehling C., Langer M., Nassenstein I., Bachmann R., Heindel W., Vieth V. High resolution 3.0 Tesla MR imaging findings in patients with bilateral Madelung's deformity. Surg Radiol Anat 2009, 31:551-557.
    • (2009) Surg Radiol Anat , vol.31 , pp. 551-557
    • Stehling, C.1    Langer, M.2    Nassenstein, I.3    Bachmann, R.4    Heindel, W.5    Vieth, V.6
  • 47
    • 35748935244 scopus 로고    scopus 로고
    • Madelung's deformity: a spectrum of presentation
    • Zebala L.P., Manske P.R., Goldfarb C.A. Madelung's deformity: a spectrum of presentation. J Hand Surg 2007, 32A:1393-1401.
    • (2007) J Hand Surg , vol.32 A , pp. 1393-1401
    • Zebala, L.P.1    Manske, P.R.2    Goldfarb, C.A.3
  • 48
  • 49
    • 80053609250 scopus 로고    scopus 로고
    • Prevalence and incidence of scoliosis in Turner syndrome: a study in 49 girls followed-up for 4 years
    • Ricotti S., Petrucci L., Carenzio G., Klersy C., Calcaterra V., Larizza D., et al. Prevalence and incidence of scoliosis in Turner syndrome: a study in 49 girls followed-up for 4 years. Eur J Phys Rehabil Med 2011, 47:1-7.
    • (2011) Eur J Phys Rehabil Med , vol.47 , pp. 1-7
    • Ricotti, S.1    Petrucci, L.2    Carenzio, G.3    Klersy, C.4    Calcaterra, V.5    Larizza, D.6
  • 51
    • 0036963699 scopus 로고    scopus 로고
    • Deletions of the homeobox gene SHOX (Short Stature Homeobox) are an important cause of growth failure in children with short stature
    • Rappold G.A., Fukami M., Niesler B., Schiller S., Zumkeller W., Bettendorf M., et al. Deletions of the homeobox gene SHOX (Short Stature Homeobox) are an important cause of growth failure in children with short stature. J Clin Endocrinol Metab 2002, 87:1402-1406.
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 1402-1406
    • Rappold, G.A.1    Fukami, M.2    Niesler, B.3    Schiller, S.4    Zumkeller, W.5    Bettendorf, M.6
  • 53
    • 79952376662 scopus 로고    scopus 로고
    • Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response
    • Hughes I.P., Choong C.S., Harris M., Ambler G.R., Cutfield W.S., Hofman P.L., et al. Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response. Clin Endocrinol (Oxf) 2011, 74:473-480.
    • (2011) Clin Endocrinol (Oxf) , vol.74 , pp. 473-480
    • Hughes, I.P.1    Choong, C.S.2    Harris, M.3    Ambler, G.R.4    Cutfield, W.S.5    Hofman, P.L.6
  • 54
    • 80053612368 scopus 로고    scopus 로고
    • A longitudinal study of hearing decline in women with Turner syndrome
    • Hederstierna C., Hultcrantz M., Rosenhall U. A longitudinal study of hearing decline in women with Turner syndrome. Acta Otolaryngol 2009, 27:1-8.
    • (2009) Acta Otolaryngol , vol.27 , pp. 1-8
    • Hederstierna, C.1    Hultcrantz, M.2    Rosenhall, U.3
  • 55
    • 0032747392 scopus 로고    scopus 로고
    • The influence of karyotype on the auricle, otitis media and hearing in Turner syndrome
    • Barrenäs M.L., Nylén O., Hanson C. The influence of karyotype on the auricle, otitis media and hearing in Turner syndrome. Hear Res 1999, 138:163-170.
    • (1999) Hear Res , vol.138 , pp. 163-170
    • Barrenäs, M.L.1    Nylén, O.2    Hanson, C.3


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