Results 181 to 190 of about 6,796 (211)

Genes and Gene Functions Associated with Morphological, Productive, Reproductive, and Carcass Quality Traits in Pigs: A Functional Bioinformatics Approach. [PDF]

open access: yesCurr Issues Mol Biol
Hernández-Montiel W   +8 more
europepmc   +1 more source

Neofunction of ACVR1 in fibrodysplasia ossificans progressiva

open access: yesNeofunction of ACVR1 in fibrodysplasia ossificans progressiva
openaire  

Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma [PDF]

open access: yesNature Genetics, 2014
Diffuse intrinsic pontine gliomas (DIPGs) are highly infiltrative malignant glial neoplasms of the ventral pons that, due to their location within the brain, are unsuitable for surgical resection and consequently have a universally dismal clinical outcome.
Kathryn R Taylor   +2 more
exaly   +7 more sources

Mutant ACVR1 Arrests Glial Cell Differentiation to Drive Tumorigenesis in Pediatric Gliomas [PDF]

open access: yesCancer 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
Gonzalo Sanchez Duffhues   +2 more
exaly   +5 more sources

Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma [PDF]

open access: yesNature 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.
Simon Papillon-Cavanagh   +2 more
exaly   +5 more sources
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Functional Modeling of the ACVR1 (R206H) Mutation in FOP

Clinical Orthopaedics & Related Research, 2007
Individuals with fibrodysplasia ossificans progressiva are born with malformations of the great toes and develop a heterotopic skeleton during childhood because of an identical heterozygous mutation in the glycine-serine activation domain of ACVR1, a bone morphogenetic protein type I receptor.
Jay C, Groppe   +2 more
openaire   +2 more sources

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