Results 141 to 150 of about 7,648 (236)
FoxK1 and FoxK2 in insulin regulation of cellular and mitochondrial metabolism [PDF]
, 2019 A major target of insulin signaling is the FoxO family of Forkhead transcription factors, which translocate from the nucleus to the cytoplasm following insulin-stimulated phosphorylation.
Albrechtsen, N. +15 more
core +2 more sources
Therapeutic targeting of PRMT5 and mutant ACVR1 in paediatric glioma
, 2021 Diffuse Intrinsic Pontine Glioma (DIPG) is a universally fatal paediatric brainstem tumour with a median overall survival of 9-11 months. The unique genetic, anatomical and developmental identity of the tumour means that there are currently no effective chemotherapies or targeted therapies.
openaire +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
Purification Of Acvr1 For Co_Crystallisation With Ldn_193189 And Other Compounds
, 2018 Purification protocol for ACVR1 and crystallisation with different compounds.
Adamson, Roslin +3 more
openaire +1 more source
Case Reports in Genetics, 2013 Fibrodysplasia ossificans progressiva (FOP) is an exceptionally rare genetic disease that is characterised by congenital malformations of the great toes and progressive heterotopic ossification (HO) in specific anatomical areas. This disease is caused by
Rafael Herrera-Esparza +7 more
doaj +1 more source
Fibrodysplasia ossificans progressiva: mechanisms and models of skeletal metamorphosis
Disease Models & Mechanisms, 2012 Fibrodysplasia ossificans progressiva (FOP; MIM #135100) is a debilitating genetic disorder of connective tissue metamorphosis. It is characterized by malformation of the great (big) toes during embryonic skeletal development and by progressive ...
Frederick S. Kaplan +2 more
doaj +1 more source
TGF-beta signaling proteins and the Protein Ontology [PDF]
, 2009 The Protein Ontology (PRO) is designed as a formal and principled Open Biomedical Ontologies (OBO) Foundry ontology for proteins. The components of PRO extend from a classification of proteins on the basis of evolutionary relationships at the ...
Cathy, Wu +7 more
core
Difficult diagnosis and genetic analysis of fibrodysplasia ossificans progressiva: a case report
BMC Medical Genetics, 2018 Background Fibrodysplasia ossificans progressiva (FOP), an ultra-rare and disabling genetic disorder of skeletal malformations and progressive heterotopic ossification, is caused by heterozygous activating mutations in activin A receptor, type I/activin ...
Shengjie Tian, Jianhua Zhu, Yaogang Lu
doaj +1 more source
Heterotopic Ossification: Cellular Basis, Symptoms, and Treatment [PDF]
, 2012 Heterotopic ossification (HO) is the process by which calcified bone develops in soft tissues. Because of the abnormal calcification, complications such as bone deformation, loss of range of motion, and joint immobility adversely affect patients.
Wolfe, Brian
core
Momelotinib: Mechanism of action, clinical, and translational science
Clinical and Translational ScienceMyelofibrosis is a chronic myeloproliferative disorder characterized by bone marrow fibrosis, splenomegaly, anemia, and constitutional symptoms, with a median survival of ≈6 years from diagnosis.
Georgios Vlasakakis +8 more
doaj +1 more source