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Li, V. GHR Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5651 (accessed on 21 September 2026).
Li V. GHR Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5651. Accessed September 21, 2026.
Li, Vivi. "GHR Gene" Encyclopedia, https://encyclopedia.pub/entry/5651 (accessed September 21, 2026).
Li, V. (2020, December 25). GHR Gene. In Encyclopedia. https://encyclopedia.pub/entry/5651
Li, Vivi. "GHR Gene." Encyclopedia. Web. 25 December, 2020.
GHR Gene
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/ghr

Growth hormone receptor

genes

References

  1. Amselem S, Duquesnoy P, Attree O, Novelli G, Bousnina S, Postel-Vinay MC,Goossens M. Laron dwarfism and mutations of the growth hormone-receptor gene. NEngl J Med. 1989 Oct 12;321(15):989-95.
  2. Brooks AJ, Waters MJ. The growth hormone receptor: mechanism of activation andclinical implications. Nat Rev Endocrinol. 2010 Sep;6(9):515-25. doi:10.1038/nrendo.2010.123.
  3. Dos Santos C, Essioux L, Teinturier C, Tauber M, Goffin V, Bougnères P. Acommon polymorphism of the growth hormone receptor is associated with increasedresponsiveness to growth hormone. Nat Genet. 2004 Jul;36(7):720-4.
  4. Filopanti M, Giavoli C, Grottoli S, Bianchi A, De Marinis L, Ghigo E, Spada A.The exon 3-deleted growth hormone receptor: molecular and functionalcharacterization and impact on GH/IGF-I axis in physiological and pathologicalconditions. J Endocrinol Invest. 2011 Dec;34(11):861-8. Review.
  5. Guevara-Aguirre J, Balasubramanian P, Guevara-Aguirre M, Wei M, Madia F, ChengCW, Hwang D, Martin-Montalvo A, Saavedra J, Ingles S, de Cabo R, Cohen P, LongoVD. Growth hormone receptor deficiency is associated with a major reduction inpro-aging signaling, cancer, and diabetes in humans. Sci Transl Med. 2011 Feb16;3(70):70ra13. doi: 10.1126/scitranslmed.3001845.
  6. Guevara-Aguirre J, Rosenbloom AL. Obesity, diabetes and cancer: insight intothe relationship from a cohort with growth hormone receptor deficiency.Diabetologia. 2015 Jan;58(1):37-42. doi: 10.1007/s00125-014-3397-3.
  7. Jorge AA, Arnhold IJ. Growth hormone receptor exon 3 isoforms and theirimplication in growth disorders and treatment. Horm Res. 2009 Apr;71 Suppl2:55-63. doi: 10.1159/000192438.
  8. Savage MO, Woods KA, Johnston LB, Postel-Vinay MC, Amselem S, Clark AJ.Defects of the growth hormone receptor and their clinical implications. GrowthHorm IGF Res. 1999 Apr;9 Suppl A:57-61. Review.
  9. Wassenaar MJ, Biermasz NR, Pereira AM, van der Klaauw AA, Smit JW, RoelfsemaF, van der Straaten T, Cazemier M, Hommes DW, Kroon HM, Kloppenburg M, Guchelaar HJ, Romijn JA. The exon-3 deleted growth hormone receptor polymorphismpredisposes to long-term complications of acromegaly. J Clin Endocrinol Metab.2009 Dec;94(12):4671-8. doi: 10.1210/jc.2009-1172.
  10. Wassenaar MJ, Dekkers OM, Pereira AM, Wit JM, Smit JW, Biermasz NR, Romijn JA.Impact of the exon 3-deleted growth hormone (GH) receptor polymorphism onbaseline height and the growth response to recombinant human GH therapy inGH-deficient (GHD) and non-GHD children with short stature: a systematic reviewand meta-analysis. J Clin Endocrinol Metab. 2009 Oct;94(10):3721-30. doi:10.1210/jc.2009-0425.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Vivi Li
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Entry Collection: MedlinePlus
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Update Date: 25 Dec 2020
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