Results 101 to 110 of about 5,020 (198)
, 2013 DNA sequencing electropherograms of a typical FOP patient, and of atypical patients 1 and 2, at the positions of the causative ACVR1 mutations.
R. Graham G. Russell (373636) +8 more
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eLifePediatric diffuse midline gliomas (pDMG) are an aggressive type of childhood cancer with a fatal outcome. Their major epigenetic determinism has become clear, notably with the identification of K27M mutations in histone H3.
Paul Huchede +26 more
doaj +1 more source
Mutation Detection in Activin A Receptor, Type I (ACVR1) Gene in Fibrodysplasia Ossificans Progressiva in An Iranian Family [PDF]
Cell Journal, 2014 Fibrodysplasia Ossificans Progressiva (FOP, MIM 135100) is a rare genetic disease that is often inherited sporadically in an autosomal dominant pattern. The disease manifests in early life with malformed great toes and, its episodic and progressive bone ...
Ziba Morovvati +5 more
doaj
ACVR1 R206H cooperates with H3.1K27M in promoting diffuse intrinsic pontine glioma pathogenesis
Nature Communications, 2019 ACVR1 and H3.1K27M mutations co-occur in diffuse intrinsic pontine glioma. Here, the authors generate a mouse model that recapitulates these genetic lesions and show, using genetic and pharmacological approaches, that the bone morphogenetic protein ...
Christine M. Hoeman +12 more
doaj +1 more source
Determining the dual luciferase ALK5 IC50 values of 30 legacy ACVR1/ALK2 inhibitors
, 2018 A large number of ACVR1/ALK2 inhibitors were previously synthesised by Paul Brenner’s team (Target Discovery Center, University of Oxford) for the purpose of treating Fibrodysplasia Ossificans Progressiva (FOP). Although these compounds were not designed
Alex Bullock +3 more
core +1 more source
International physician survey on management of FOP: a modified Delphi study
Orphanet Journal of Rare Diseases, 2017 Fibrodysplasia ossificans progressiva (FOP), a disabling disorder of progressive heterotopic ossification (HEO), is caused by heterozygous gain-of- function mutations in Activin receptor A, type I (ACVR1, also known as ALK2), a bone morphogenetic protein
Maja Di Rocco +12 more
doaj +1 more source
Understanding the pathogenic mechanism of ACVR1 mutations in Diffuse Intrinsic Pontine Glioma
, 2018 A research poster outlining the planned experiments and preliminary results of a research project titled 'Understanding the pathogenic mechanism of ACVR1/ALK2 mutations in Diffuse Intrinsic Pontine Glioma (DIPG)'.
Brown, Elizabeth (5037548) +5 more
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ACVR1 Crystals at the Diamond Light Source – Beamline I04.
, 2019 Funding Acknowledgment: The SGC is a registered charity (number 1097737) that receives funds from AbbVie, Bayer Pharma AG, Boehringer Ingelheim, Canada Foundation for Innovation, Eshelman Institute for Innovation, Genome Canada through Ontario Genomics Institute [OGI-055], Innovative Medicines Initiative (EU/EFPIA) [ULTRA-DD grant no. 115766], Janssen,
Williams, E.P., Bullock, A.N.
openaire +2 more sources
, 2013 A schematic of ACVR1 domain organization showing the position of mutations in patients 1 (Arg202Ile) and 2 (Gly328Glu) with respect to the classical mutation (Arg206His).
R. Graham G. Russell (373636) +8 more
core +1 more source
Gja1 acts downstream of Acvr1 to regulate uterine decidualization via Hand2 in mice
, 2017 Although Gja1 has been proved to play an important role in uterine decidualization, its regulatory mechanism remains largely unknown. Here, we showed that Gja1 was highly expressed in the decidual cells and promoted the proliferation of uterine stromal ...
Hai-Fan Yu +6 more
core +1 more source