Results 31 to 40 of about 7,722 (194)
A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene
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 +1 more source
Stem Cell Research, 2021 Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder of progressive ossification of skeletal muscle, fascia, tendons, and ligaments. Most FOP cases are caused by a heterozygous c.
Xiuli Huang +7 more
doaj +1 more source
Blood Advances, 2022 Key Points • Pacritinib exhibits fourfold higher potency for inhibition of the hepcidin regulator ACVR1 compared to momelotinib based on in vitro data.• Pacritinib is associated with an increase in red blood cell transfusion independence in patients with
S. Oh +14 more
semanticscholar +1 more source
The Journal of Clinical Investigation, 2022 Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease characterized by progressive and catastrophic heterotopic ossification (HO) of skeletal muscle and associated soft tissues.
John B. Lees-Shepard +8 more
doaj +1 more source
Approaches Toward Improving the Prognosis of Pediatric Patients With Glioma: Pursuing Mutant Drug Targets With Emerging Small Molecules [PDF]
, 2014 Gliomas represent approximately 70% of all pediatric brain tumors and most of these are of astrocytic lineage, furthermore, malignant or high-grade astrocytoma account for approximately 20% of pediatric astrocytoma. Treatment options for pediatric glioma
Snape, Timothy J., Warr, Tracy
core +1 more source
Scientific Reports, 2023 Diffuse midline gliomas (DMG) harbouring H3K27M mutation are paediatric tumours with a dismal outcome. Recently, a new subtype of midline gliomas has been described with similar features to DMG, including loss of H3K27 trimethylation, but lacking the ...
P. Ajuyah +20 more
semanticscholar +1 more source
ACVR1 Function in Health and Disease
Cells, 2019 Activin A receptor type I (ACVR1) encodes for a bone morphogenetic protein type I receptor of the TGFβ receptor superfamily. It is involved in a wide variety of biological processes, including bone, heart, cartilage, nervous, and reproductive system
José Antonio Valer +4 more
doaj +1 more source
Function of Bmpr1a in ES cell differentiation and cell competition [PDF]
, 2010 Bone morphogenetic protein (BMP) 4 signalling via BMPR1A is required for the maintenance of the epiblast in the early embryo, and for self-renewal of pluripotent mouse embryonic stem (ES) cells by inhibiting neural differentiation.
Sancho, Maria Margarida Gouveia +1 more
core +1 more source
Fibrodysplasia ossificans progressiva in a 3-year-old female patient
Boletín Médico del Hospital Infantil de México, 2023 Background: Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disease affecting connective tissue, primarily caused by de novo mutations of the ACVR1 gene.
Cecilia Moreira +9 more
doaj +1 more source
Case Reports in Genetics, 2022 Fibrodysplasia ossificans progressiva (FOP) is a rare skeletal disorder characterized by congenital malformation of the great toes and progressive heterotopic ossification.
Kosei Hasegawa +4 more
doaj +1 more source