Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 5 of 5 for “"ACVR1"”.
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Fop-Acvr1 Signals By Multiple Modalities In The Developing Zebrafish
… of the type I BMP/TGFβ cell surface receptor, ACVR1, which over-activate signaling through phospho-Smad1/5 (pSmad1/5). To investigate the uncertain mechanism by which FOP-ACVR1 enhances pSmad1/5 activation, we used a zebrafish embryonic dorsoventral (DV) patterning assay for BMP signaling. In …
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Comprehensive Integrated Genomic and Histopathological Analysis of Paediatric Diffuse Intrinsic Pontine Glioma
… cancer drivers, histone H3 mutation in 78.5% and ACVR1 mutations in 21.25% of DIPG patients, respectively and discover that DIPGs are three molecularly distinct subgroups (H3-K27M, Silent and MYCN). The H3-K27M subgroup is highly p.Lys27Met histone H3 mutated and associated with additional hits …
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Novel Oncogenic Drivers in Pediatric Gliomagenesis
… somatic heterozygous missense mutations in <em>ACVR1</em>, coding for a receptor serine-threonine kinase involved in bone morphogenetic protein (BMP) signaling. These alterations led to gain-of-function as evidenced by increased phosphorylation of downstream targets in primary astrocytes and …
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Detection of Genes Influencing Chronic and Mendelian Disease Via Loss-of-Function Variation
… including 9 confirmed de novo variants (<em>ACVR1</em>, <em>JARID2</em>, <em>KMT2D</em>, <em>NF1</em>, <em>NR2F2</em>, <em>PLRG1, SMURF1, TBX20</em>,<em> </em>and<em> ZEB2</em>).</p> <p>The analytical strategy presented here highlights the role of biologically-informed annotation on …
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Development of BMP type I receptor kinase inhibitors for the treatment of fibrodysplasia ossificans progressiva and the study of the BMP signaling pathway
… caused by a highly recurrent mutation in the ACVR1 gene encoding the BMP type I receptor activin-like kinase 2 (ALK2), characterized by the progressive heterotopic ossification (HO) of skeletal muscle and connective tissue leading to widespread joint immobilization, with significant morbidity …