Results 41 to 50 of about 4,120 (178)
British Journal of Haematology, EarlyView.Summary Over the past decade, there has been a substantial increase in the diversity and number of therapeutic options for myeloproliferative neoplasms (MPNs). While many remain within the clinical trial arena, the clinician and patient community have seen more approvals reaching the clinic and a rethink on how best we should be approaching these ...
Trung Q. Ngo +3 more
wiley +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
British Journal of Haematology, EarlyView.Summary Ruxolitinib remains first‐line standard of care for symptomatic myelofibrosis, but resistance/intolerance develops in most patients. Three Janus kinase inhibitors (JAKis) have entered the post‐ruxolitinib space via distinct pivotal trials. We systematically searched prospective trials evaluating JAKi in refractory adults with myelofibrosis ...
Andrea Duminuco +8 more
wiley +1 more source
Nature Communications, 2018 Fibrodysplasia ossificans progressiva is a severe disorder characterized by heterotopic ossification, and is caused by mutations in ACVR1. Here, the authors show that expression of mutant ACVR1 in fibro/adipogenic progenitors recapitulates disease ...
John B. Lees-Shepard +13 more
doaj +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
AOSNP‐ADAPTR resource level‐based recommendations on practical diagnostic strategies for ependymomas
Brain Pathology, EarlyView.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
Cell Proliferation, EarlyView.Wt1 expressed in the MD mesenchyme promotes MD regression by inducing Wif1 and Osx transcription. In male mice, mesenchyme‐specific inactivation of Wt1 results in MD retention. ABSTRACT In mammals, Müllerian ducts (MDs) are the precursors of the female reproductive tract which regress in males during embryonic development.
Min Chen +12 more
wiley +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
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
International Journal of Cancer, Volume 159, Issue 7, Page 1633-1641, 1 October 2026.ABSTRACT The recently published ONKOPEDIA guideline on myelofibrosis, issued under the auspices of the German Society of Hematology and Oncology (DGHO), provides an updated, evidence‐based framework for the diagnosis and management of this rare, chronic myeloproliferative neoplasm.
Martin Griesshammer +8 more
wiley +1 more source