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dc.contributor.authorMartínez-Frías, María Luisa-
dc.contributor.authorFrutos, Cristina A. de-
dc.contributor.authorBermejo, Eva-
dc.contributor.authorNieto, M. Ángela-
dc.identifier.citationAmerican Journal of Medical Genetics. Part a 152A(1): 245-255 (2010)es_ES
dc.description11 páginas, 5 figuras, 1 tabla.es_ES
dc.description.abstractAchondroplasia (ACH), thanatophoric dysplasia (TD) types I and II, hypochondroplasia (HCH), and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) are all due to activating mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. We review the clinical, epidemiological, radiological, molecular aspects, and signaling pathways involved in these conditions. It is known that FGFR3 signaling is essential to regulate bone growth. The signal transducers and activators of transcription (STAT1) pathway is involved in the inhibition of chondrocyte proliferation, and the mitogen-activated protein kinase (MAPK) pathways are involved in chondrocyte differentiation. Hence, FGFR3 signaling is pivotal in chondrocyte differentiation and proliferation through these two different active pathways. Recent studies on the molecular mechanisms involved in chondrocyte differentiation and proliferation, demonstrated that Snail1 participates in the control of longitudinal bone growth and appears to be essential to transduce FGFR3 signaling during chondrogenesis. This result was confirmed in a newborn infant with TD, and suggests new non-surgical therapeutic approaches, that is, Snail1 as a new encouraging therapeutic target.es_ES
dc.description.sponsorshipWork in our laboratories is supported by grants from ISCIII, Spanish Ministry of Science and Innovation, to M.L.M.-F., and from the Spanish Ministry of Science and Innovation (BFU2008-01042, CONSOLIDER-INGENIO 2010 CSD2007- 00017 and CSD2007-00023) and the Generalitat Valenciana (Prometeo 2008/049) to M.A.N.’s lab.es_ES
dc.subjectThanatophoric dysplasiaes_ES
dc.subjectShort-limb dwarfismes_ES
dc.titleReview of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasiaes_ES
dc.description.peerreviewedPeer reviewedes_ES
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