Achondroplasia and Other FGFR3-related Short Limbed Dysplasia: Molecular Heterogeneity and Therapeutic Approaches

Achondroplasia and Other FGFR3-related Short Limbed Dysplasia: Molecular Heterogeneity and Therapeutic Approaches

DOWNLOAD THIS BOOK FREE HERE

https://upsto.re/DEBkcqH

This book discusses achondroplasia and other FGFR3-related short limb dysplasias, their molecular heterogeneity, and therapeutic approaches. Achondroplasia is dominantly inherited and one of the most common genetic causes of non-lethal short limb skeletal dysplasia due to mutations in FGFR3. Other FGFR3-related short limb dysplasias include hypochondroplasia, thanatophoric dysplasia (type I and type II), and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). Suppression of proliferation and differentiation of chondrocytes in the growth plates (as a result of a specific gain-of-function mutation in the transmembrane domain of FGFR3) is the underlying mechanism. Most of the clinical and radiological features of achondroplasia are either direct or indirect consequences of this suppression of endochondral bone growth due to overexpression of FGFR3 signaling. Downstream C-type natriuretic peptide (CNP) antagonism to FGFR3 activity can be used as a potential therapeutic strategy in achondroplasia. A new era has been entered with the phase 2 trial of CNP analogue BMN 111 showing promising results in children with achondroplasia. This has demonstrated that curing patients with skeletal disorders is not a dream anymore

DISCLAIMER

This website strictly complies with DMCA Digital Copyright Laws..

Please be clear that we (emedicalbooks.com) do not own copyrights of these e-books. The intention behind sharing these books and educational material is to provide easy access to medical students, doctors and other individuals related to the field of medical science, "thus only for educational purpose". We highly encourage our readers to purchase this content from the respected publishers. If anyone holding copyrights wants us to remove this content, please contact us rightaway. All books and educational material on emedicalbooks.com are free and NOT HOSTED ON OUR WEBSITE. If you feel that your copyrights have been violated, then please contact us immediately. You may send an email to emedical1521@gmail.com for all DMCA / Removal Requests. emedicalbooks.com doesn’t have any material hosted on the server of this page, only links to books that are taken from other sites on the web are published and these links are unrelated to the book server. emedicalbooks.com server doesnot store any type of book or material. No illegal copies are made or any copyright © and / or copyright is damaged or infringed since all material is free on the internet.