Referências / References

Esta página oferece links para artigos científicos que abordam diversos assuntos sobre a acondroplasia. O acesso é livre, disponibilizado pelos respectivos editores ou por outros provedores de conteúdo. No entanto, pode haver mudanças ao longo do tempo.

This page offers links to scientific papers approaching many aspects of achondroplasia. Access is free, made available by the respective publishers or by other web sources. This may change over time.

Esta página ofrece enlaces a artículos científicos que se ocupan de diversas cuestiones relativas a la acondroplasia. El acceso es libre, según lo informado por los respectivos editores o por otras fuentes en la web. Sin embargo, puede haber cambios con el tiempo.

  • Fano V et al. Manejo de la acondroplasia. Octobre 2013. Disponible online en Español.
  • Gollust SE et al. Living with achondroplasia in an average-sized world: an assessment of quality of life.Am J Med Genet Part A 2003;120A(4):447-58.
  • Hoover-Fong JE et al. Weight for age charts for children with achondroplasia. Am J Med Genetics Part A 2007;143A: 2227–35.
  • Ireland PJ et al. Optimal management of complications associated with achondroplasia. Appl Clin Genetics 2014;7: 117–25.
  • Trotter T et al. American Academy of Pediatrics Clinical Report. Guidance for the Clinician in Rendering Pediatric Care. Health supervision for children with achondroplasia. Pediatrics 2005;116:771–83. (English)
  • Trotter T et al. American Academy of Pediatrics Clinical Report. Guidance for the Clinician in Rendering Pediatric Care. Health supervision for children with achondroplasia. Pediatrics 2005;116:771–83. (Español)

Revisões da genética da acondroplasia
Achondroplasia genetics' reviews
Revisiones de la genética de la acondroplasia
  • Foldynova-Trantirkova S et al. Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias. Hum Mutat 2012;33:29–41
  • He L et al. Physical basis behind achondroplasia,the most common form of human dwarfism. J Biol Chem 2010;285(39):30103–14. 
  • Horton W. Molecular pathogenesis of achondroplasia. GGH 2006;22(4):49-54
  • Laederich MB and Horton WA. Achondroplasia: pathogenesis and implications for future treatment. Curr Opin Pediatr 2010;22:516–23.
  • Su N et al. Role of FGF/FGFR signaling in skeletal development and homeostasis: learning from mouse models. Bone Res 2014;2:14003; doi:10.1038/boneres.2014.3

Descrição da mutação do FGFR3
FGFR3 mutation description
Descripción de la mutación del FGFR3
  • Bellus GA et al. Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet 1995;56(2):368-73.
  • Rousseau F et al. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature 1994;371(6494):252-4. 
Placa de crescimento
Growth plate
La placa de crecimiento
  • Farnum CE et al. In vivo delivery of fluoresceinated dextrans to the murine growth plate: imaging of three vascular routes by multiphoton microscopy. Anat Rec A Discov Mol Cell Evol Biol 2006;288(1):91-103.
  • Kronenberg H. PTHrP and Skeletal Development. Ann NY Acad Sci 2006; 1068: 1–13.
  • Lui JC, Nilsson O, Baron JRecent Insights into the Regulation of the Growth Plate. J Mol Endocrinol 53 (1) T1-T9, doi: 10.1530/JME-14-0022.
  • Mackie EJ et al. The skeleton: a multi-functional complex organ. The growth plate chondrocyte and endochondral ossification. J Endocrinol 2011; 211: 109–21.
  • Williams RM et al. Solute transport in growth plate cartilage: in vitro and in vivo. Biophys J 2007;93(3):1039-50. 

Mecanismos biológicos e moleculares do FGFR3 e da acondroplasia
Biological and molecular mechanisms of FGFR3 and achondroplasia
Los mecanismos biológicos y moleculares del FGFR3 e de la acondroplasia

  • Davidson D et al. Fibroblast growth factor (FGF) 18 signals through FGF Receptor 3 to promote chondrogenesis. J Biol Chem 2005; 280: 20509-15.
  • Garofalo S et al. Skeletal dysplasia and defective chondrocyte differentiation by targeted overexpression of fibroblast growth factor 9 in transgenic mice. J Bone Miner Res 1999; 14 (11): 1909-15.
  • Xie Y et al. Advances in fibroblast growth factor signaling in growth plate development and disorders. J Mol Endocrinol 53 (1) T11-T34, doi: 10.1530/JME-14-001.

Peptídeo natriurético do tipo C 
C-type natriuretic peptide
Péptido natriuretico del tipo C
  • Chusho H et al. Dwarfism and early death in mice lacking C-type natriuretic peptide PNAS 2001; 98 (7): 4016–21.
  • Kake T et al. Chronically elevated plasma C-type natriureticpeptide level stimulates skeletal growth in transgenic mice. Am J Physiol Endocrinol Metab 2009; 297:E1339-48.
  • 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 2006; 118: 5089-00.
  • Lorget F et al. Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia. Am J Hum Genet 2012;91(6):1108-14.
  • Nakao K et al. Impact of local CNP/GC-B system in growth plates on endochondral bone growth. Pharmacol Toxicol 2013; 14 (Suppl 1):48.
  • Yasoda A et al. Systemic Administration of C-Type Natriuretic Peptide as a Novel Therapeutic Strategy for Skeletal Dysplasias. Endocrinology 2009;150: 3138–44
  • Yasoda A and Nakao K. Translational research of C-type natriuretic peptide (CNP) into skeletal dysplasias. Endocrine J 2010; 57 (8): 659- 66.

Parathyroid hormone
Hormona paratireoidea
  • Amizuka N et al. Signalling by fibroblast growth factor receptor 3 and parathyroid hormone-related peptide coordinate cartilage and bone development. Bone 2004;34 (1): 13–25. 
  • Chen L et al. A Ser(365)-->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia. Hum Mol Genet 2001; 10(5):457-65.
  • Divieti P et al. Receptors specific for the carboxyl-terminal region of parathyroid hormone on bone-derived cells: determinants of ligand binding and bioactivity. Endocrinology 2005;146(4): 1863–70.
  • Jolette J. et al. Defining a noncarcinogenic dose of recombinant human parathyroid hormone 1–84 in a 2-year study in Fischer 344 rats.Toxicol Pathol 2006; 34: 929-40.
  • Kronenberg H. PTHrP and Skeletal Development. Ann NY Acad Sci 2006; 1068: 1–13.
  • Winer KK et al. Long-term treatment of hypoparathyroidism: a randomized controlled study comparing parathyroid hormone-(1–34) versus calcitriol and calcium. J Clin Endocrinol Metab 2003;88: 4214–20.
  • Winer KK et al. Effects of once versus twice-daily parathyroid hormone 1–34 therapy in children with hypoparathyroidism. J Clin Endocrinol Metab 2008;93: 3389–95.
  • Winer KK et al. Long-term treatment of 12 children with chronic hypoparathyroidism: a randomized trial comparing synthetic human parathyroid hormone 1-34 versus calcitriol and calcium. J Clin Endocrinol Metab 2010;95(6):2680-8.

Inibidores de tirosinoquinase
Tyrosine quinase inhibitors
Inhibidores de la tirosina quinasa
  • Jonquoy A et al. A novel tyrosine kinase inhibitor restores chondrocyte differentiation and promotes bone growth in a gain-of-function Fgfr3 mouse model. Hum Mol Genet 2012;21(4):841-51. doi: 10.1093/hmg/ddr514.
  •  Krejci P et al. NF449 is a novel inhibitor of fibroblast growth factor receptor 3 (FGFR3) signaling active in chondrocytes and multiple myeloma cells. J Biol Chem. 2010; 285(27): 20644-53.
  • Sebastian A et al. Genetic inactivation of ERK1 and ERK2 in chondrocytes promotes bone growth and enlarges the spinal canal. J Orthop Res 2011; 29(3): 375–9. 

Interferência por RNA
RNA interference
  • Pecot CV et al. RNA interference in the clinic: challenges and future directions. Nat Rev Cancer. 2011; 11(1): 59–67.

  • Qing et al. Antibody-based targeting of FGFR3 in bladder carcinoma and t(4;14)-positive multiple myeloma in mice. J Clin Invest. 2009;119(5):1216–1229. doi:10.1172/JCI38017

  • Tuerk C, Gold L. Systematic evolution of ligands by exponential enrichment: RNA ligands to bacteriophage T4 DNA polymerase. Science 1990;249 (4968): 505-10. 

Captura de ligantes
Ligand trap
Captura de ligantes
  • Garcia S et al. Postnatal soluble FGFR3 therapy rescues achondroplasia symptoms and restores bone growth in mice. Sci Transl Med 2013; 5 (203):203ra124.

Desenvolvimento de medicamentos
Drug development
Desarrollo de medicamentos
  • Beaulieu CL et al. A generalizable pre-clinical research approach for orphan disease therapy. Orphanet Journal of Rare Diseases 2012;7:39.
  • Dolgin E. Straight talk with... Robert Beall. Nature Medicine 2012;18:335.
  • Frangioni JV. Nonprofit foundations for open-source biomedical technology development. Nature Biotechnology 2012;30:928–32.
  • Hill A et al. Minimum costs to produce Hepatitis C direct acting antivirals. Presented at the 64th Annual Meeting of AASLD, Washington DC, USA, November 2013 [Poster 1097]. Published as: Hill A et al. Minimum production costs of direct acting antivirals, for use in large-scale HCV eradication programmes in developing countries. Hepatology 2013; 58 (suppl.1): 740A.
  • Knox R. $1,000 pill for Hepatitis C spurs debate over drug prices. NPR News. Accessed 18th June 2014.
  • Melnikova IRare diseases and orphan drugs. Nature Rev Drug Discovery 2012; 11: 267-8. 
  •  Phillips MI. Big Pharma's new model in orphan drugs and rare diseases. Expert Opinion on Orphan Drugs 2013;1 (1) :1-3.
  • Tambuyzer ERare diseases, orphan drugs and their regulation: questions and misconceptions. Nature Rev Drug Discovery 2010; 9: 921-9.

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