{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T19:14:50Z","timestamp":1792782890347,"version":"4.5.0"},"reference-count":48,"publisher":"Springer Science and Business Media LLC","issue":"5-6","license":[{"start":{"date-parts":[[2020,3,6]],"date-time":"2020-03-06T00:00:00Z","timestamp":1583452800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2020,3,6]],"date-time":"2020-03-06T00:00:00Z","timestamp":1583452800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Johannes Kepler University Linz"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Wien Med Wochenschr"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    Achondroplasia is the most common form of disproportionate short stature. A\u00a0dominantly inherited\n                    <jats:italic>FGFR3<\/jats:italic>\n                    mutation permanently activates the fibroblast growth factor receptor\u00a03 (FGFR3) and its downstream mitogen-activated protein kinase (MAPK) signalling pathway. This inhibits chondrocyte differentiation and puts a\u00a0break on growth plate function, in addition to causing serious medical complications such as foramen magnum and spinal stenosis and upper airway narrowing. A\u00a0great deal has been learned about complications and consequences of FGFR3 activation and management guidance is evolving aimed to reduce the increased mortality and morbidity in this condition, particularly deaths from spinal cord compression and sleep apnoea in infants and small children. To date, no drugs are licensed for treatment of achondroplasia. Here, we report on the various substances in the drug development pipeline which target elements in molecular disease mechanism such as FGF (fibroblast growth factor) ligands, FGFR3, MAPK signalling as well as the C\u2011type natriuretic peptide receptor NPR\u2011B (natriuretic peptide receptor B).\n                  <\/jats:p>","DOI":"10.1007\/s10354-020-00741-6","type":"journal-article","created":{"date-parts":[[2020,3,6]],"date-time":"2020-03-06T03:02:40Z","timestamp":1583463760000},"page":"104-111","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["New developments in the management of achondroplasia","Neue Entwicklungen im Management der Achondroplasie"],"prefix":"10.1007","volume":"170","author":[{"given":"Wolfgang","family":"H\u00f6gler","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leanne M.","family":"Ward","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,3,6]]},"reference":[{"key":"741_CR1","doi-asserted-by":"publisher","DOI":"10.1038\/s41390-019-0722-z","author":"AS Chagin","year":"2019","unstructured":"Chagin\u00a0AS, Newton\u00a0PT. Postnatal skeletal growth is driven by the epiphyseal stem cell niche: potential implications to pediatrics. Pediatr Res. 2019; https:\/\/doi.org\/10.1038\/s41390-019-0722-z.","journal-title":"Pediatr Res"},{"issue":"12","key":"741_CR2","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1038\/nrendo.2015.165","volume":"11","author":"J Baron","year":"2015","unstructured":"Baron\u00a0J, Savendahl\u00a0L, De Luca\u00a0F, Dauber\u00a0A, Phillip\u00a0M, Wit\u00a0JM, et\u00a0al. Short and tall stature: a\u00a0new paradigm emerges. Nat Rev Endocrinol. 2015;11(12):735\u201346.","journal-title":"Nat Rev Endocrinol"},{"issue":"Suppl 1","key":"741_CR3","first-page":"129","volume":"16","author":"M Gardner","year":"2018","unstructured":"Gardner\u00a0M, Scerbak\u00a0T, Sandberg\u00a0DE. Psychosocial aspects of short stature and rhGH treatment: implicit trends over 60+ years. Pediatr Endocrinol Rev. 2018;16(Suppl 1):129\u201341.","journal-title":"Pediatr Endocrinol Rev"},{"issue":"1","key":"741_CR4","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1186\/s13023-019-1171-9","volume":"14","author":"S Witt","year":"2019","unstructured":"Witt\u00a0S, Kolb\u00a0B, Bloemeke\u00a0J, Mohnike\u00a0K, Bullinger\u00a0M, Quitmann\u00a0J. Quality of life of children with achondroplasia and their parents\u2014a\u00a0German cross-sectional study. Orphanet J Rare Dis. 2019;14(1):194.","journal-title":"Orphanet J Rare Dis"},{"issue":"4","key":"741_CR5","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1097\/MOP.0000000000000653","volume":"30","author":"YH Jee","year":"2018","unstructured":"Jee\u00a0YH, Baron\u00a0J, Nilsson\u00a0O. New developments in the genetic diagnosis of short stature. Curr Opin Pediatr. 2018;30(4):541\u20137.","journal-title":"Curr Opin Pediatr"},{"issue":"1","key":"741_CR6","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13023-018-0972-6","volume":"14","author":"RM Pauli","year":"2019","unstructured":"Pauli\u00a0RM. Achondroplasia: a\u00a0comprehensive clinical review. Orphanet J Rare Dis. 2019;14(1):1.","journal-title":"Orphanet J Rare Dis"},{"key":"741_CR7","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13542","author":"SO Fredwall","year":"2019","unstructured":"Fredwall\u00a0SO, Maanum\u00a0G, Johansen\u00a0H, Snekkevik\u00a0H, Savarirayan\u00a0R, Lidal\u00a0IB. Current knowledge of medical complications in adults with achondroplasia: A scoping review. Clin Genet. 2019; https:\/\/doi.org\/10.1111\/cge.13542.","journal-title":"Clin Genet"},{"issue":"2","key":"741_CR8","first-page":"368","volume":"56","author":"GA Bellus","year":"1995","unstructured":"Bellus\u00a0GA, Hefferon\u00a0TW, Ortiz de Luna\u00a0RI, Hecht\u00a0JT, Horton\u00a0WA, Machado\u00a0M, et\u00a0al. Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet. 1995;56(2):368\u201373.","journal-title":"Am J Hum Genet"},{"issue":"20","key":"741_CR9","doi-asserted-by":"crossref","first-page":"4117","DOI":"10.1093\/hmg\/ddt260","volume":"22","author":"DN Shinde","year":"2013","unstructured":"Shinde\u00a0DN, Elmer\u00a0DP, Calabrese\u00a0P, Boulanger\u00a0J, Arnheim\u00a0N, Tiemann-Boege\u00a0I. New evidence for positive selection helps explain the paternal age effect observed in achondroplasia. 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