Varaico: Literature-Extracted Genetic Variants

Gene:ACVR1
Variant:p.K27M
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ACVR1

NM_001111067.4:p.K27M

Associated Papers

Molecular characterization and clinical features of diffuse midline glioma in the pediatric precision oncology registry INFORM.

Pfaff E et al.

Acta Neuropathologica, 2025

Aberrant histone modifications in pediatric brain tumors.

Hamanishi ET et al.

Frontiers in Oncology, 2025

Cancer Immunotherapy Using AIRE Conditioning of the Tumor Epitopeome.

Vile R et al.

Research Square, 2024

BMP2 and BMP7 cooperate with H3.3K27M to promote quiescence and invasiveness in pediatric diffuse midline gliomas.

Huchede P et al.

Elife, 2024

A pontine-specific axonal niche supports de novo gliomagenesis.

Xie Z et al.

Biorxiv : the Preprint Server for Biology, 2024

Pediatric Diffuse Midline Glioma H3K27-Altered: From Developmental Origins to Therapeutic Challenges.

Mandorino M et al.

Cancers, 2024

A new subtype of diffuse midline glioma, H3 K27 and BRAF/FGFR1 co-altered: a clinico-radiological and histomolecular characterisation.

Auffret L et al.

Acta Neuropathologica, 2023

Ataxia-telangiectasia mutated ( Atm ) disruption sensitizes spatially-directed H3.3K27M/TP53 diffuse midline gliomas to radiation therapy.

Mangoli A et al.

Biorxiv : the Preprint Server for Biology, 2023

Midline Gliomas: A Retrospective Study from a Cancer Center in the Middle East.

Al Sharie S et al.

Cancers, 2023

Human iPSCs as Model Systems for BMP-Related Rare Diseases.

Sánchez-Duffhues G et al.

Cells, 2023

Genomic profiling and prognostic factors of H3 K27M-mutant spinal cord diffuse glioma.

Chai RC et al.

Brain Pathology (zurich, Switzerland), 2023

36751054 (PubMed )
Supplement: BPA-33-e13153-s008.pdf

Correlation between Multiparametric MR Imaging and Molecular Genetics in Pontine Pediatric High-Grade Glioma.

Rameh V et al.

Ajnr. American Journal of Neuroradiology, 2023

Oncohistones and disrupted development in pediatric-type diffuse high-grade glioma.

Ocasio JK et al.

Cancer Metastasis Reviews, 2023

Genomic profiles of IDH-mutant gliomas: MYCN-amplified IDH-mutant astrocytoma had the worst prognosis.

Lee K et al.

Scientific Reports, 2023

37185778 (PubMed )
Supplement: 41598_2023_32153_MOESM1_ESM.docx

Impact of age and gender on glioblastoma onset, progression, and management.

Colopi A et al.

Mechanisms of Ageing and Development, 2023

Histone H3-wild type diffuse midline gliomas with H3K27me3 loss are a distinct entity with exclusive EGFR or ACVR1 mutation and differential methylation of homeobox genes.

Ajuyah P et al.

Scientific Reports, 2023

36882456 (PubMed )
Supplement: 41598_2023_30395_MOESM1_ESM.pdf

Common molecular features of H3K27M DMGs and PFA ependymomas map to hindbrain developmental pathways.

Pun M et al.

Acta Neuropathologica Communications, 2023

Functional genomic analysis of adult and pediatric brain tumor isolates.

Hoellerbauer P et al.

Biorxiv : the Preprint Server for Biology, 2023

Therapeutic targeting of prenatal pontine ID1 signaling in diffuse midline glioma.

Messinger D et al.

Neuro-oncology, 2023

35605606 (PubMed )
Supplement: noac141_suppl_supplementary_material_s1.docx

K27M in canonical and noncanonical H3 variants occurs in distinct oligodendroglial cell lineages in brain midline gliomas.

Jessa S et al.

Nature Genetics, 2022

Clinical Features and Prognosis of Diffuse Midline Glioma: A Series of 24 Cases.

Jang SW et al.

Brain Tumor Research and Treatment, 2022

The intrinsic and microenvironmental features of diffuse midline glioma: Implications for the development of effective immunotherapeutic treatment strategies.

Persson ML et al.

Neuro-oncology, 2022

Diffusion and perfusion imaging biomarkers of H3 K27M mutation status in diffuse midline gliomas.

Kathrani N et al.

Neuroradiology, 2022

Recurrent ACVR1 mutations in posterior fossa ependymoma.

Pratt D et al.

Acta Neuropathologica, 2022

A Targeted Next-Generation Sequencing Panel to Genotype Gliomas.

Guarnaccia M et al.

Life (basel, Switzerland), 2022

Diffuse Intrinsic Pontine Glioma: Molecular Landscape, Evolving Treatment Strategies and Emerging Clinical Trials.

Damodharan S et al.

Journal of Personalized Medicine, 2022

What's new in molecular genetic pathology 2022: immune checkpoint inhibitor biomarkers and select solid tumors.

Tsang PC et al.

Journal of Pathology and Translational Medicine, 2022

Prognostic Implication of Patient Age in H3K27M-Mutant Midline Gliomas.

Vuong HG et al.

Frontiers in Oncology, 2022

Radiogenomics of diffuse intrinsic pontine gliomas (DIPGs): correlation of histological and biological characteristics with multimodal MRI features.

Calmon R et al.

European Radiology, 2021

Molecular Characteristics of Thalamic Gliomas in Adults.

Wang T et al.

Journal of Molecular Neuroscience : Mn, 2021

Pathogenic ACVR1R206H activation by Activin A-induced receptor clustering and autophosphorylation.

Ramachandran A et al.

The Embo Journal, 2021

Topographic correlates of driver mutations and endogenous gene expression in pediatric diffuse midline gliomas and hemispheric high-grade gliomas.

Kazarian E et al.

Scientific Reports, 2021

Patient-derived models recapitulate heterogeneity of molecular signatures and drug response in pediatric high-grade glioma.

He C et al.

Nature Communications, 2021

34215733 (PubMed )
Supplement: 41467_2021_24168_MOESM4_ESM.xlsx › 1a._Summary_of_cohort

The H3.3K27M oncohistone antagonizes reprogramming in Drosophila.

Ahmad K et al.

Plos Genetics, 2021

Accumulated Knowledge of Activin Receptor-Like Kinase 2 (ALK2)/Activin A Receptor, Type 1 (ACVR1) as a Target for Human Disorders.

Katagiri T et al.

Biomedicines, 2021

Cardiopulmonary and Neurologic Dysfunctions in Fibrodysplasia Ossificans Progressiva.

Khan F et al.

Biomedicines, 2021

Brain stem gliomas and current landscape.

Wummer B et al.

Journal of Neuro-oncology, 2021

Targeting Mutant PPM1D Sensitizes Diffuse Intrinsic Pontine Glioma Cells to the PARP Inhibitor Olaparib.

Wang Z et al.

Molecular Cancer Research : Mcr, 2020

Inactivation of Epigenetic Regulators due to Mutations in Solid Tumors.

Nemtsova MV et al.

Biochemistry. Biokhimiia, 2020

Differential kinase activity of ACVR1 G328V and R206H mutations with implications to possible TβRI cross-talk in diffuse intrinsic pontine glioma.

Cao H et al.

Scientific Reports, 2020

Retrospective analysis on the consistency of MRI features with histological and molecular markers in diffuse intrinsic pontine glioma (DIPG).

Giagnacovo M et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2020

Mutant ACVR1 Arrests Glial Cell Differentiation to Drive Tumorigenesis in Pediatric Gliomas.

Fortin J et al.

Cancer Cell, 2020

32142668 (PubMed )
Supplement: mmc1.pdf

Epigenetic reprogramming and chromatin accessibility in pediatric diffuse intrinsic pontine gliomas: a neural developmental disease.

Mendez FM et al.

Neuro-oncology, 2020

ALK2: A Therapeutic Target for Fibrodysplasia Ossificans Progressiva and Diffuse Intrinsic Pontine Glioma.

Sekimata K et al.

Chemical & Pharmaceutical Bulletin, 2020

Pediatric Diffuse Midline Gliomas H3 K27M-Mutant and Non-Histone Mutant Midline High-Grade Gliomas in Neurofibromatosis Type 1 in Comparison With Non-Syndromic Children: A Single-Center Pilot Study.

Garibotto F et al.

Frontiers in Oncology, 2020

Genomic Profiling Identified Novel Prognostic Biomarkers in Chinese Midline Glioma Patients.

Li H et al.

Frontiers in Oncology, 2020

Oncohistone Mutations in Diffuse Intrinsic Pontine Glioma.

Zhang X et al.

Trends in Cancer, 2019

ACVR1 Function in Health and Disease.

Valer JA et al.

Cells, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."