ACVR1 function in health and disease

JA Valer, C Sánchez-de-Diego, C Pimenta-Lopes… - Cells, 2019 - mdpi.com
Activin A receptor type I (ACVR1) encodes for a bone morphogenetic protein type I receptor
of the TGFβ receptor superfamily. It is involved in a wide variety of biological processes …

Heterotopic ossification: radiological and pathological review

B Mujtaba, A Taher, MJ Fiala, S Nassar… - Radiology and …, 2019 - sciendo.com
Background Heterotopic Ossification (HO) is a common condition referring to ectopic bone
formation in soft tissues. It has two major etiologies, acquired (more common) and genetic …

Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma

KR Taylor, A Mackay, N Truffaux, YS Butterfield… - Nature …, 2014 - nature.com
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 …

Mutant ACVR1 arrests glial cell differentiation to drive tumorigenesis in pediatric gliomas

J Fortin, R Tian, I Zarrabi, G Hill, E Williams… - Cancer Cell, 2020 - cell.com
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 …

ACVR1 Mutations in DIPG: Lessons Learned from FOP

KR Taylor, M Vinci, AN Bullock, C Jones - Cancer research, 2014 - AACR
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 …

BMP receptor blockade overcomes extrinsic inhibition of remyelination and restores neurovascular homeostasis

MA Petersen, R Tognatta, A Meyer-Franke… - Brain, 2021 - academic.oup.com
Extrinsic inhibitors at sites of blood–brain barrier disruption and neurovascular damage
contribute to remyelination failure in neurological diseases. However, therapies to overcome …

Fibrodysplasia ossificans progressiva (FOP): a disorder of osteochondrogenesis

FS Kaplan, M Al Mukaddam, A Stanley, OW Towler… - Bone, 2020 - Elsevier
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder of extraskeletal
bone formation, but could appropriately be viewed as a seminal disorder of …

Common mutations in ALK2/ACVR1, a multi-faceted receptor, have roles in distinct pediatric musculoskeletal and neural orphan disorders

M Pacifici, EM Shore - Cytokine & growth factor reviews, 2016 - Elsevier
Abstract Activin receptor-like kinase-2 (ALK2), the product of ACVR1, is a member of the
type I bone morphogenetic protein (BMP) receptor family. ALK2 exerts key and non …

Heterotopic ossification after hip arthroscopy

E Amar, ZT Sharfman, E Rath - Journal of Hip Preservation …, 2015 - academic.oup.com
Heterotopic ossification (HO) after hip arthroscopy is the abnormal formation of mature
lamellar bone within extra skeletal soft tissues. HO may lead to pain, impaired range of …

Bone morphogenetic protein 4 signalling in neural stem and progenitor cells during development and after injury

AE Cole, SS Murray, J Xiao - Stem cells international, 2016 - Wiley Online Library
Substantial progress has been made in identifying the extracellular signalling pathways that
regulate neural stem and precursor cell biology in the central nervous system (CNS). The …