메뉴 건너뛰기




Volumn 52, Issue 5, 2008, Pages 765-773

Short stature caused by SHOX gene haploinsufficiency: From diagnosis to treatment;Baixa estatura por haploinsuficiência do gene SHOX: Do diagnóstico ao tratamento

Author keywords

Dwarfism diagnostic; Dwarfism genetic; Failure to thrive; Genes homeobox; Growth hormone pharmacology; Growth hormone therapeutic use

Indexed keywords


EID: 51949111362     PISSN: 00042730     EISSN: 16779487     Source Type: Journal    
DOI: 10.1590/s0004-27302008000500008     Document Type: Review
Times cited : (8)

References (32)
  • 2
    • 0020059758 scopus 로고
    • Clinical and cytogenetic aspects of X-chromosome deletions
    • Goldman B, Polani PE, Daker MG, Angell RR. 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    Angell, R.R.4
  • 3
    • 0025633118 scopus 로고
    • Homologous ribosomal protein genes on the human X and Y chromosomes: Escape from X inactivation and possible implications for Turner syndrome
    • Fisher EM, Beer-Romero P, Brown LG, Ridley A, McNeil JA, Lawrence JB, et al. Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome. Cell. 1990;63:1205-18.
    • (1990) Cell , vol.63 , pp. 1205-1218
    • Fisher, E.M.1    Beer-Romero, P.2    Brown, L.G.3    Ridley, A.4    McNeil, J.A.5    Lawrence, J.B.6
  • 5
    • 0030940217 scopus 로고    scopus 로고
    • Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
    • Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet. 1997;16:54-63.
    • (1997) Nat Genet , vol.16 , pp. 54-63
    • Rao, E.1    Weiss, B.2    Fukami, M.3    Rump, A.4    Niesler, B.5    Mertz, A.6
  • 7
    • 0346220283 scopus 로고    scopus 로고
    • Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX
    • Blaschke RJ, Topfer C, Marchini A, Steinbeisser H, Janssern JW, Rappold GA. Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX. J Biol Chem. 2003;278:47820-6.
    • (2003) J Biol Chem , vol.278 , pp. 47820-47826
    • Blaschke, R.J.1    Topfer, C.2    Marchini, A.3    Steinbeisser, H.4    Janssern, J.W.5    Rappold, G.A.6
  • 8
    • 0035894660 scopus 로고    scopus 로고
    • The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator
    • Rao E, Blaschke RJ, Marchini A, Niesler B, Burnett M, Rappold GA. The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator. Hum Mol Genet. 2001;10:3083-91.
    • (2001) Hum Mol Genet , vol.10 , pp. 3083-3091
    • Rao, E.1    Blaschke, R.J.2    Marchini, A.3    Niesler, B.4    Burnett, M.5    Rappold, G.A.6
  • 11
    • 0035131335 scopus 로고    scopus 로고
    • Tall stature, gonadal dysgenesis, and stigmata of Turner's syndrome caused by a structurally altered X chromosome
    • Binder G, Eggermann T, Enders H, Ranke MB, Dufke A. Tall stature, gonadal dysgenesis, and stigmata of Turner's syndrome caused by a structurally altered X chromosome. J Pediatr. 2001;138:285-7.
    • (2001) J Pediatr , vol.138 , pp. 285-287
    • Binder, G.1    Eggermann, T.2    Enders, H.3    Ranke, M.B.4    Dufke, A.5
  • 12
    • 4544383265 scopus 로고    scopus 로고
    • SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: Prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity
    • Binder G, Renz A, Martinez A, Keselman A, Hesse V, Riedl SW, et al. SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity. J Clin Endocrinol Metab. 2004;89:4403-8.
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 4403-4408
    • Binder, G.1    Renz, A.2    Martinez, A.3    Keselman, A.4    Hesse, V.5    Riedl, S.W.6
  • 14
    • 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;84:4613-21.
    • (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
  • 16
    • 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 MB, Martin DD. 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;88:4891-6.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 4891-4896
    • Binder, G.1    Ranke, M.B.2    Martin, D.D.3
  • 17
    • 33845662367 scopus 로고    scopus 로고
    • SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: Frequency and phenotypic variability
    • Jorge AA, Souza SC, Nishi MY, Billerbeck AE, Liborio DC, Kim CA, et al. SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability. Clin Endocrinol (Oxf). 2007;66:130-5.
    • (2007) Clin Endocrinol (Oxf) , vol.66 , pp. 130-135
    • Jorge, A.A.1    Souza, S.C.2    Nishi, M.Y.3    Billerbeck, A.E.4    Liborio, D.C.5    Kim, C.A.6
  • 18
    • 34248379653 scopus 로고    scopus 로고
    • Genotypes and phenotypes in children with short stature: Clinical indicators of SHOX haploinsufficiency
    • Rappold G, Blum WF, Shavrikova EP, Crowe BJ, Roeth R, Quigley CA, et al. Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency. J Med Genet. 2007;44:306-13.
    • (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
  • 22
    • 0034455487 scopus 로고    scopus 로고
    • Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone
    • Binder G, Schwarze CP, Ranke MB. Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone. J Clin Endocrinol Metab. 2000;85:245-9.
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 245-249
    • Binder, G.1    Schwarze, C.P.2    Ranke, M.B.3
  • 24
    • 33749245482 scopus 로고    scopus 로고
    • High incidence of SHOX anomalies in individuals with short stature
    • Huber C, Rosilio M, Munnich A, Cormier-Daire V. High incidence of SHOX anomalies in individuals with short stature. J Med Genet. 2006; 43:735-9.
    • (2006) J Med Genet , vol.43 , pp. 735-739
    • Huber, C.1    Rosilio, M.2    Munnich, A.3    Cormier-Daire, V.4
  • 25
    • 0035177711 scopus 로고    scopus 로고
    • Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity
    • Grigelioniene G, Schoumans J, Neumeyer L, Ivarsson A, Eklof O, Enkvist O, et al. Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity. Hum Genet. 2001;109:551-8.
    • (2001) Hum Genet , vol.109 , pp. 551-558
    • Grigelioniene, G.1    Schoumans, J.2    Neumeyer, L.3    Ivarsson, A.4    Eklof, O.5    Enkvist, O.6
  • 27
    • 18644385887 scopus 로고    scopus 로고
    • Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood
    • Flanagan SF, Munns CF, Hayes M, Williams B, Berry M, Vickers D, et al. Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood. J Med Genet. 2002;39:758-63.
    • (2002) J Med Genet , vol.39 , pp. 758-763
    • Flanagan, S.F.1    Munns, C.F.2    Hayes, M.3    Williams, B.4    Berry, M.5    Vickers, D.6
  • 28
    • 25444470259 scopus 로고    scopus 로고
    • A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis
    • Benito-Sanz S, Thomas NS, Huber C, Gorbenko del Blanco D, Aza-Carmona M, Crolla JA, et al. A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. Am J Hum Genet. 2005;77:533-44.
    • (2005) Am J Hum Genet , vol.77 , pp. 533-544
    • Benito-Sanz, S.1    Thomas, N.S.2    Huber, C.3    Gorbenko del Blanco, D.4    Aza-Carmona, M.5    Crolla, J.A.6
  • 29
    • 29244486467 scopus 로고    scopus 로고
    • Transactivation function of an approximately 800-bp evolutionarily conserved sequence at the SHOX 3' region: Implication for the downstream enhancer
    • Fukami M, Kato F, Tajima T, Yokoya S, Ogata T. Transactivation function of an approximately 800-bp evolutionarily conserved sequence at the SHOX 3' region: implication for the downstream enhancer. Am J Hum Genet. 2006;78:167-70.
    • (2006) Am J Hum Genet , vol.78 , pp. 167-170
    • Fukami, M.1    Kato, F.2    Tajima, T.3    Yokoya, S.4    Ogata, T.5
  • 30
    • 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 WF, Crowe BJ, Quigley CA, Jung H, Cao D, Ross JL, 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. 2007;92:219-28.
    • (2007) J Clin Endocrinol Metab , vol.92 , pp. 219-228
    • Blum, W.F.1    Crowe, B.J.2    Quigley, C.A.3    Jung, H.4    Cao, D.5    Ross, J.L.6
  • 31
    • 2442641275 scopus 로고    scopus 로고
    • Statural growth in 31 Japanese patients with SHOX haploinsufficiency: Support for 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 for 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
  • 32
    • 0034931841 scopus 로고    scopus 로고
    • Growth hormone and gonadotropin-releasing hormone analog therapy in haploinsufficiency of SHOX
    • Ogata T, Onigata K, Hotsubo T, Matsuo N, Rappold G. Growth hormone and gonadotropin-releasing hormone analog therapy in haploinsufficiency of SHOX. Endocr J. 2001;48:317-22.
    • (2001) Endocr J , vol.48 , pp. 317-322
    • Ogata, T.1    Onigata, K.2    Hotsubo, T.3    Matsuo, N.4    Rappold, G.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.