ACVR1 R206H cooperates with H3.1K27M in promoting diffuse intrinsic pontine glioma pathogenesis
Nature Communications, 2019 ACVR1 and H3.1K27M mutations co-occur in diffuse intrinsic pontine glioma. Here, the authors generate a mouse model that recapitulates these genetic lesions and show, using genetic and pharmacological approaches, that the bone morphogenetic protein ...
Christine M. Hoeman +12 more
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BMP2 and BMP7 cooperate with H3.3K27M to promote quiescence and invasiveness in pediatric diffuse midline gliomas [PDF]
eLifePediatric diffuse midline gliomas (pDMG) are an aggressive type of childhood cancer with a fatal outcome. Their major epigenetic determinism has become clear, notably with the identification of K27M mutations in histone H3.
Paul Huchede +26 more
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Molecular Developmental Biology of Fibrodysplasia Ossificans Progressiva: Measuring the Giant by Its Toe [PDF]
BiomoleculesWhen a genetic disease is characterized by the abnormal activation of normal molecular pathways and cellular events, it is illuminating to critically examine the places and times of these activities both in health and disease.
O. Will Towler +2 more
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The Immunoregulatory and Hematopoietic Effects of Momelotinib in a Murine Bone Marrow Failure Model. [PDF]
J Clin Lab AnalMomelotinib, a selective small‐molecule inhibitor of JAK1/2 and the bone morphogenic protein receptor kinase activin A receptor type I (ACVR1), exerts its effects by inhibiting the overactivation of the BMP/ACVR1/SMAD signaling pathway. This inhibition reduces hepcidin production in hepatocytes, and reduces inflammation, aberrant cytokine signaling ...
Zhang Y +7 more
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npj Regenerative Medicine, 2022 Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease in which extraskeletal (heterotopic) bone forms within tissues such as skeletal muscles, often in response to injury.
Alexandra Stanley +5 more
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Biomolecules, 2023 Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder characterized by progressive disabling heterotopic ossification (HO) at extra-skeletal sites. Here, we developed adeno-associated virus (AAV)-based gene therapy that suppresses
Yeon-Suk Yang +6 more
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The role of the 3'UTR region in the regulation of the ACVR1/Alk-2 gene expression. [PDF]
PLoS ONE, 2012 BACKGROUND: The ACVR1/Alk-2 gene, encoding a BMP type I receptor, is mutated in Fibrodysplasia Ossificans Progressiva, a severe form of heterotopic ossification. Regulation of ACVR1/Alk-2 expression, still poorly understood, is likely to be controlled by
Marzia Mura +4 more
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Clinical, radiologic, pathologic, and molecular characteristics of long-term survivors of diffuse intrinsic pontine glioma (DIPG): a collaborative report from the International and European Society for Pediatric Oncology DIPG registries [PDF]
, 2018 Purpose Diffuse intrinsic pontine glioma (DIPG) is a brainstem malignancy with a median survival of < 1 year. The International and European Society for Pediatric Oncology DIPG Registries collaborated to compare clinical, radiologic, and ...
Antonelli, Manila +73 more
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eLife, 2020 Fibrodysplasia ossificans progressiva (FOP) is a rare human genetic disorder characterized by altered skeletal development and extraskeletal ossification.
Robyn S Allen +3 more
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The Journal of Clinical Investigation, 2022 Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder whose most debilitating pathology is progressive and cumulative heterotopic ossification (HO) of skeletal muscles, ligaments, tendons, and fascia.
Senem Aykul +20 more
doaj +1 more source