Results 71 to 80 of about 534 (161)
Maternal Decision-Making through Temporal Uncertainties: The Anticipatory Biopolitics of Vosoritide in Dwarfism Communities [PDF]
Vosoritide, a biotechnological therapy designed to increase growth in children with achondroplasia, has introduced new pressures and bodily possibilities for families navigating this rare genetic condition.
Saville, Kelly-Mae
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ACOMPANHAMENTO DE PACIENTE PEDIÁTRICO COM ACONDROPLASIA EM USO DE VOSORITIDE: RELATO DE CASO [PDF]
Introdução: A acondroplasia é uma doença genética rara, por uma variante patogênica do gene FGFR3. Sua prevalência no mundo é de 1:25.000 nascimentos.
Guedes, Brenno Tristão +2 more
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FGFR antagonists restore defective mandibular bone repair in a mouse model of osteochondrodysplasia
Bone ResearchGain-of-function mutations in fibroblast growth factor receptor (FGFR) genes lead to chondrodysplasia and craniosynostoses. FGFR signaling has a key role in the formation and repair of the craniofacial skeleton. Here, we analyzed the impact of Fgfr2- and
Anne Morice +6 more
doaj +1 more source
Thanatophoric Dysplasia Type 1 Treated with Vosoritide: A Case Report
Hormone Research in PaediatricsIntroduction: Thanatophoric dysplasia type 1 (TD1) is the most severe form of FGFR3-related skeletal dysplasia, with high perinatal mortality and no approved pharmacologic therapies. Vosoritide, a C-type natriuretic peptide analogue that counteracts FGFR3 overactivation, improves growth in achondroplasia, but its effects in TD1 remain unexplored.
Rodrigo Montero-Lopez +6 more
openaire +2 more sources
[New treatments for achondroplasia may be efficacious in other forms of short stature]
, 2021 Achondroplasia is the most common form of monogenic skeletal dysplasia and is caused by activating mutations in fibroblast growth factor receptor 3 (FGFR3) resulting in exaggerated MAPK signaling in the growth cartilage chondrocytes and thus reduced ...
Nilsson, O,
core
A Comprehensive Clinical and Therapeutic Review of Achondroplasia and Related Skeletal Dysplasias
Medical and Pharmaceutical JournalGain-of-function mutations in the FGFR3 gene cause achondroplasia, the most prevalent skeletal dysplasia, characterized by disproportionately small stature and impaired endochondral ossification.
Ramesh Kumar +5 more
doaj +1 more source
Promising horizons in achondroplasia along with the development of new drugs
Endocrine JournalAchondroplasia (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 FGFR3
Keiichi Ozono +2 more
doaj +1 more source
Objective: To evaluate the longitudinal effects of vosoritide on growth, body proportionality, and safety in children with achondroplasia in a real-world clinical setting, and to identify early predictors of treatment response.
José Gregorio Dominguez Alfonso +6 more
core +1 more source