Results 51 to 60 of about 7,648 (236)
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
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
Neuro-Oncology, 2023 Somatic mutations in ACVR1, which encodes the serine/threonine kinase ALK2, are found in 20-25% of DMG-H3K27 patients. Treatment of ACVR1-mutant orthotopic xenografts with multiple chemotypes of ALK2 inhibitors (ALK2i) results in extended survival in ...
Rebecca F Rogers +23 more
semanticscholar +1 more source
Fibrodisplasia Osificante Progresiva: Reporte de Primer Caso Guatemalteco
Revista de la Facultad de Medicina, 2023 La Fibrodisplasia Osificante Progresiva (FOP) es una enfermedad rara, compleja, de herencia autosómica dominante, causada por una mutación heterocigota del gen ACVR1 en el cromosoma 2q24 (OMIM 135100), con una prevalencia de 1 en 2 millones en todo el ...
Marcela Elizabeth Orozco Orozco +3 more
doaj +1 more source
DIPG-06. PRECLINICAL EVALUATION OF A NOVEL ACVR1 INHIBITOR IN DIFFUSE INTRINSIC PONTINE GLIOMAS
Neuro-Oncology, 2023 Diffuse intrinsic pontine glioma (DIPG) is an incurable brain disease in children. DIPG is refractory to current available therapies. Hence, new therapeutic approaches are urgently needed. About 80% of DIPGs harbor histone 3 lysine to methionine (H3K27M)
S. Kumar +3 more
semanticscholar +1 more source
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 +4 more sources
Developmental Dynamics, 2023 Fibrodysplasia ossificans progressiva (FOP), a rare disease characterized by progressive heterotopic ossification of muscle and connective tissues, is caused by autosomal dominant activating mutations in the type I receptor, ACVR1/ALK2. The classic human
R. L. Lalonde +5 more
semanticscholar +1 more source
Mutant ACVR1 Arrests Glial Cell Differentiation to Drive Tumorigenesis in Pediatric Gliomas [PDF]
Cancer Cell, 2020 Diffuse intrinsic pontine gliomas (DIPGs) are aggressive pediatric brain tumors for which there is currently no effective treatment. Some of these tumors combine gain-of-function mutations in ACVR1, PIK3CA, and histone H3-encoding genes. The oncogenic mechanisms of action of ACVR1 mutations are currently unknown. Using mouse models, we demonstrate that
Fortin, J. +21 more
openaire +4 more sources
Survival rates and prognostic predictors of high grade brain stem gliomas in childhood : a systematic review and meta-analysis [PDF]
, 2017 Diagnosis of a pediatric high grade brain stem glioma is devastating with dismal outcomes. This systematic review and meta-analysis was undertaken to determine the survival rates and assess potential prognostic factors including selected interventions ...
Hassan, Hadeel +3 more
core +1 more source
Myositis ossificans circumscripta of the buccinator muscle: first report of a rare complication of mandibular third molar extraction. [PDF]
, 2008 Myositis ossificans is a self-limiting ossifying process that most often develops following mechanical trauma to skeletal musculature. It chiefly affects the skeletal muscles of extremities of young athletically active adult males. Myositis ossificans is
Abramovitch, Kenneth +4 more
core +1 more source