Results 61 to 70 of about 5,020 (198)
Clinical, radiological, and molecular diagnosis of progressive fibrodysplasia ossificans
Boletín Médico del Hospital Infantil de México, 2021 Background: Progressive fibrodysplasia ossificans is a rare genetic disease with heterozygous mutations (autosomal dominant inheritance) in the ACVR1 gene, which causes progressive heterotopic ossification in muscles, tendons, and ligaments, usually ...
Vianey Ordóñez-Labastida +6 more
doaj +1 more source
Deposition of crystal structure of ACVR1 / ALK2 with M4K2009
, 2019 Deposition of the structure of ACVR1 / ALK2 bound to the compound M4K2009 You can read more over at Open Lab ...
Williams, Eleanor +3 more
core +1 more source
AOSNP‐ADAPTR resource level‐based recommendations on practical diagnostic strategies for ependymomas
Brain Pathology, Volume 36, Issue 6, November 2026.Adapting Diagnostic Approaches for Practical Taxonomy in Resource‐Restrained Regions (ADAPTR) recommendations for ependymomas in resource‐restrained settings (RL = resource level; created in BioRender). Abstract Ependymomas are uncommon primary tumors of the central nervous system (CNS) that affect both children and adults.
Laveniya Satgunaseelan +13 more
wiley +1 more source
ACVR1 mutations in endometrial cancer.
, 2016 (A) All overlapping residues between the two databases are scored for signal-to-noise ratios and nominal P values. Blue dots represent the hits that are also significant by MutSigCV. The red dots are new associations found in this study. The distribution
Justin R. Pritchard (655343) +1 more
core +1 more source
Fibrodysplasia Ossificans Progressiva: A rare case series
Journal of Orthopaedic Reports, 2023 Background: Fibrodysplasia ossificans progressiva is a rare autosomal dominant connective tissue disorder with a prevalence of 2 per million individuals.
Lokesh kumar Sekaran +3 more
doaj +1 more source
ACVR1 mutation and Fibrodysplasia Ossificans Progressiva in Chinese children [PDF]
Pediatric Rheumatology, 2011 Fibrodysplasia Ossificans Progressiva (FOP) is a rare autosomal dominant connective tissue disorder characterized by congenital great toes malformation and progressive heterotopic osteogenesis leading to progressive debilitating ankylosis of the body.
Ng Bobby KW +6 more
openaire +2 more sources
, 2013 (A) Wild-type ACVR1 kinase domain. The residues where mutations are described in this study are represented as sticks (green, labelled). A ribbons representation of the GS-rich motif is highlighted in magenta.
R. Graham G. Russell (373636) +8 more
core +1 more source
BMP‐ACVR1 Axis is Critical for Efficacy of PRC2 Inhibitors in B‐Cell Lymphoma
Advanced ScienceEZH2 is the catalytic subunit of the histone methyltransferase Polycomb Repressive Complex 2 (PRC2), and its somatic activating mutations drive lymphoma, particularly the germinal center B‐cell type.
Dongdong Liu +11 more
doaj +1 more source
Pediatric Rheumatology Online Journal, 2023 Fibrodysplasia ossificans progressive (FOP) is an ultra-rare genetic disorder that is caused by a mutation in the ACVR1 gene and provokes severe heterotopic ossification.
Irina P. Nikishina +7 more
doaj +1 more source
Advanced Healthcare Materials, Volume 15, Issue 37, 9 October 2026.We developed a patient‐derived, functional microfluidic model of the diffuse midline glioma (DMG) blood–brain–tumor barrier (BBTB) comprised of endothelial cells, astrocytes, pericytes, and tumor cells. The system forms perfusable microvasculature, reveals the BBTB retains vascular integrity, identifies DMG‐specific transcriptomic changes distinct from
Kimberly R. Bennett +7 more
wiley +1 more source