ACVR1 (activin A receptor, type I) [PDF]
Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2013 Review on ACVR1 (activin A receptor, type I), with data on DNA, on the protein encoded, and where the gene is implicated.
Rainho, CA, Rogatto, SR
openaire +4 more sources
ACVR1: A Novel Therapeutic Target to Treat Anemia in Myelofibrosis
Cancers, 2023 Activin receptor type I (ACVR1) is a transmembrane kinase receptor belonging to bone morphogenic protein receptors (BMPs). ACVR1 plays an important role in hematopoiesis and anemia via the BMP6/ACVR1/SMAD pathway, which regulates expression of hepcidin, the master regulator of iron homeostasis.
Andrea Duminuco +5 more
openaire +4 more sources
ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant [PDF]
Human Molecular Genetics, 2014 Fibrodysplasia ossificans progressiva (FOP) is a disabling genetic disorder of progressive heterotopic ossification (HO). Here, we report a patient with an ultra-rare point mutation [c.619C>G, p.Q207E] located in a codon adjacent to the most common FOP mutation [c.617G>A, p.R206H] of Activin A Receptor, type 1 (ACVR1) and that affects the same ...
J. Haupt +12 more
openaire +3 more sources
The tumor suppressor gene Trp53 protects the mouse lens against posterior subcapsular cataracts and the BMP receptor Acvr1 acts as a tumor suppressor in the lens [PDF]
Disease Models & Mechanisms, 2011 SUMMARY We previously found that lenses lacking the Acvr1 gene, which encodes a bone morphogenetic protein (BMP) receptor, had abnormal proliferation and cell death in epithelial and cortical fiber cells.
Luke A. Wiley +3 more
doaj +2 more sources
Genomic Context and Mechanisms of the ACVR1 Mutation in Fibrodysplasia Ossificans Progressiva [PDF]
Biomedicines, 2021 Basic research in Fibrodysplasia Ossificans Progressiva (FOP) was carried out in the various fields involved in the disease pathophysiology and was important for designing therapeutic approaches, some of which were already developed as ongoing or planned
Roberto Ravazzolo, Renata Bocciardi
doaj +4 more sources
Acvr1 And Tgfbr1 Purification, And Composite Screen Design
, 2018 Purification of ACVR1 as well as TGFBR1, and design of a super screen for ...
Adamson, Roslin +3 more
openaire +3 more sources
A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene [PDF]
Molecular Genetics & Genomic Medicine, 2021 Background Fibrodysplasia Ossificans Progressiva (FOP) is a rare autosomal dominant disease characterized by congenital malformation of the great toes and progressive heterotopic ossification of soft tissues leading to cumulative disability.
Serena Cappato +4 more
doaj +3 more sources
High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva [PDF]
Disease Models & Mechanisms, 2016 The ACVR1 gene encodes a type I receptor of bone morphogenetic proteins (BMPs). Activating mutations in ACVR1 are responsible for fibrodysplasia ossificans progressiva (FOP), a rare disease characterized by congenital toe malformation and progressive ...
Serena Cappato +11 more
doaj +2 more sources
Co-Crystallisation Of Acvr1 With Three Compounds - Fine Screen
, 2018 The SGC is a registered charity (number 1097737) that receives funds from AbbVie, Bayer Pharma AG, Boehringer Ingelheim, Canada Foundation for Innovation, Eshelman Institute for Innovation, Genome Canada, Innovative Medicines Initiative (EU/EFPIA) [ULTRA-DD grant no.
Adamson, Roslin Jane +3 more
openaire +3 more sources
Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma [PDF]
Nature Genetics, 2014 Pediatric midline high-grade astrocytomas (mHGAs) are incurable with few treatment targets identified. Most tumors harbor mutations encoding p.Lys27Met in histone H3 variants. In 40 treatment-naive mHGAs, 39 analyzed by whole-exome sequencing, we find additional somatic mutations specific to tumor location.
Adam M Fontebasso +47 more
openaire +6 more sources