Promising horizons in achondroplasia along with the development of new drugs

Autor: Keiichi Ozono, Takuo Kubota, Toshimi Michigami

Publikováno v: Endocrine Journal, Vol 71, Iss 7, Pp 643-650 (2024)

Achondroplasia (ACH) is a representative skeletal disorder characterized by rhizomelic shortened limbs and short stature. ACH is classified as belonging to the fibroblast growth factor receptor 3 (FGFR3) group. The downstream signal transduction of F

Externí odkaz: https://doaj.org/article/f10d452caa274538b4c80158bd60eb0d

Lifetime impact of achondroplasia study in Europe (LIAISE):findings from a multinational observational study

Autor: Mohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, Angelo Selicorni, Karen E. Heath, Gabriele Haeusler, Lars Hagenäs, Andrea Merker, Antonio Leiva-Gea, Vanesa López González, Adalbert Raimann, Mirko Rehberg, Fernando Santos-Simarro, Diana-Alexandra Ertl, Pernille Axél Gregersen, Roberta Onesimo, Erik Landfeldt, James Jarrett, Jennifer Quinn, Richard Rowell, Jeanne Pimenta, Shelda Cohen, Thomas Butt, Renée Shediac, Swati Mukherjee, Klaus Mohnike

Publikováno v: Maghnie, M, Semler, O, Guillen-Navarro, E, Selicorni, A, Heath, K E, Haeusler, G, Hagenäs, L, Merker, A, Leiva-Gea, A, González, V L, Raimann, A, Rehberg, M, Santos-Simarro, F, Ertl, D A, Gregersen, P A, Onesimo, R, Landfeldt, E, Jarrett, J, Quinn, J, Rowell, R, Pimenta, J, Cohen, S, Butt, T, Shediac, R, Mukherjee, S & Mohnike, K 2023, ' Lifetime impact of achondroplasia study in Europe (LIAISE) : findings from a multinational observational study ', Orphanet Journal of Rare Diseases, vol. 18, no. 1, 56 . https://doi.org/10.1186/s13023-023-02652-2

Background Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene, is the most common skeletal dysplasia. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368) aimed to quantify the burden

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11dfec7ac94b250d5e128980ec2c0d09
https://pure.au.dk/portal/da/publications/lifetime-impact-of-achondroplasia-study-in-europe-liaise(b0e9f2ff-59db-4c5c-a1e1-50064f5d0566).html

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Molecular Confirmation of G1138A Mutation in FGFR gene in Achondroplasia

Autor: Shyam Bahadur Khanal, Mitesh Shrestha, Hemanta Kumari Chaudhary, Smita Shrestha, Rohit Kumar Pokharel

Publikováno v: Journal of Nepal Medical Association, Vol 56, Iss 211 (2018)

Introduction: Achondroplasia (ACH) is the most common form of skeletal dysplasia of genetic origin in humans which is characterized by disproportionate rhizomelic dwarfism. Heterozygous mutation in the transmembrane domain of the FGFR3 gene (4p16.3)

Externí odkaz: https://doaj.org/article/0f80ed3c851247d5a0162c98e7e44260

Frequent Telomerase Reverse Transcriptase Promoter and Fibroblast Growth Factor Receptor 3 Mutations Support the Precursor Nature of Papillary Urothelial Hyperplasia of the Urinary Bladder

Autor: Liang Cheng, Antonio Lopez-Beltran, Mingsheng Wang, Rumeal D. Whaley, Andre De Souza, Sammy Au, Rongbin Ge, Alessia Cimadamore, Ali Amin, Borivoj Golijanin, Gregory T. MacLennan, Adeboye O. Osunkoya, Rodolfo Montironi, Shaobo Zhang

Publikováno v: Modern Pathology. 36:100151

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0a51e33173be875330487c1c9bd6389
https://doi.org/10.1016/j.modpat.2023.100151