Results 31 to 40 of about 7,648 (236)
Global gene expression profiling of individual human oocytes and embryos demonstrates heterogeneity in early development [PDF]
, 2013 Early development in humans is characterised by low and variable embryonic viability, reflected in low fecundity and high rates of miscarriage, relative to other mammals.
Brison, Daniel R +4 more
core +12 more sources
Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma [PDF]
Nature 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.
Taylor, Kathryn R. +22 more
openaire +6 more sources
MicroRNA-483 amelioration of experimental pulmonary hypertension. [PDF]
, 2020 Endothelial dysfunction is critically involved in the pathogenesis of pulmonary arterial hypertension (PAH) and that exogenously administered microRNA may be of therapeutic benefit.
Bai, Liang +22 more
core +1 more source
ACVR1 Mutations in DIPG: Lessons Learned from FOP [PDF]
Cancer Research, 2014 Abstract Whole-genome sequencing studies have recently identified a quarter of cases of the rare childhood brainstem tumor diffuse intrinsic pontine glioma to harbor somatic mutations in ACVR1. This gene encodes the type I bone morphogenic protein receptor ALK2, with the residues affected identical to those that, when mutated in the ...
Taylor, K +3 more
openaire +3 more sources
Activation of AcvR1-Mediated Signaling Results in Semilunar Valve Defects
Journal of Cardiovascular Development and Disease, 2022 Calcific aortic valve disease (CAVD) is a common cardiac defect, particularly in the aging population. While several risk factors, such as bi-leaflet valve structure and old age, have been identified in CAVD pathogenesis, molecular mechanisms resulting in this condition are still under active investigation.
Shabber Syed +8 more
openaire +3 more sources
High-Density Genotypes of Inbred Mouse Strains: Improved Power and Precision of Association Mapping. [PDF]
, 2015 Human genome-wide association studies have identified thousands of loci associated with disease phenotypes. Genome-wide association studies also have become feasible using rodent models and these have some important advantages over human studies ...
Churchill, Gary A +6 more
core +1 more source
Fibrodysplasia ossificans progressiva: current concepts from bench to bedside
Disease Models & Mechanisms, 2020 Heterotopic ossification (HO) is a disorder characterised by the formation of ectopic bone in soft tissue. Acquired HO typically occurs in response to trauma and is relatively common, yet its aetiology remains poorly understood.
Arun-Kumar Kaliya-Perumal +2 more
doaj +1 more source
Modeling the ACVR1R206H mutation in human skeletal muscle stem cells
eLife, 2021 Abnormalities in skeletal muscle repair can lead to poor function and complications such as scarring or heterotopic ossification (HO). Here, we use fibrodysplasia ossificans progressiva (FOP), a disease of progressive HO caused by ACVR1R206H (Activin ...
Emilie Barruet +7 more
doaj +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
European Journal of Inflammation, 2021 To discuss the influence on proliferation and apoptosis of human intestinal epithelial cells by Helicobacter pylori (Hp). CCK-8 method and flow cytometry to test the influence on proliferation and apoptosis of intestinal epithelial cells by Hp and cell ...
Yunfeng Lin +4 more
doaj +1 more source