Results 201 to 210 of about 7,648 (236)

Progressive osseous heteroplasia in a five-month-old boy with a mutation in exon 9 of GNAS: a case report. [PDF]

Am J Transl Res
Jiang L, Li ZX.
europepmc   +1 more source

Myelofibrosis: Treatment Options After Ruxolitinib Failure. [PDF]

Curr Oncol
Stuckey R, Segura Díaz A, Gómez-Casares MT.   +2 more
europepmc   +1 more source

Three-dimensional genome architecture in intrahepatic cholangiocarcinoma. [PDF]

Cell Oncol (Dordr)
Liang Y, Li C, Zou R, Ying L, Chen X, Wang Z, Zhang W, Hao M, Yang H, Guo R, Lei G, Sun F, Zhao K, Zhang Y, Dai J, Feng S, Zhang K, Guo L, Liu S, Wan C, Wang L, Yang P, Yang Z.   +22 more
europepmc   +1 more source

Evaluation of the Effect of Momelotinib on Cardiac Repolarization: A Thorough QT Study. [PDF]

Clin Pharmacol Drug Dev
Vlasakakis G, Alvarez Y, Hart T, Ho YL, Ellis C.   +4 more
europepmc   +1 more source

Neofunction of ACVR1 in fibrodysplasia ossificans progressiva

Neofunction of ACVR1 in fibrodysplasia ossificans progressiva
openaire  

Recurrent ACVR1 mutations in posterior fossa ependymoma

Acta Neuropathologica, 2022
D. Pratt, C. Lucas, Pavalan Selvam, Zied Abdullaev, Courtney Ketchum, Martha Quezado, T. Armstrong, M. Gilbert, A. Papanicolau‐Sengos, M. Raffeld, Hyoyoung Choo-Wosoba, Priya P. Chan, Nicholas S Whipple, M. Nasrallah, M. Santi, V. Ramaswamy, C. Giannini, Timothy A. Ritzmann, R. Grundy, A. Burford, Chris Jones, C. Hawkins, S. Venneti, D. Solomon, Kenneth D. Aldape   +24 more
semanticscholar   +3 more sources

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Functional Modeling of the ACVR1 (R206H) Mutation in FOP

Clinical Orthopaedics & Related Research, 2007
Individuals with fibrodysplasia ossificans progressiva are born with malformations of the great toes and develop a heterotopic skeleton during childhood because of an identical heterozygous mutation in the glycine-serine activation domain of ACVR1, a bone morphogenetic protein type I receptor.
Jay C, Groppe, Eileen M, Shore, Frederick S, Kaplan   +2 more
openaire   +2 more sources

Abstract 4990: Dual inhibitor of ACVR1 and MEK 1/2 E6201 and PI3K/mTOR inhibitor paxalisib synergistically inhibit cell growth in DMG

Cancer Research, 2023
Diffuse midline glioma (DMG) is an aggressive pediatric glioma with no curative treatment options. Mutation in MAPK pathway is common in many DMG tumors, however, has not been largely explored before. E6201 is a dual inhibitor of ACVR1 and MEK 1/2.
Hyukje Kwon, Abigail Tindall, C. Eberhart, Jeffrey A. Rubens, Eric H. Raabe   +4 more
semanticscholar   +1 more source

Midline brain hamartomatous lesions in fibrodysplasia ossificans progressiva with ACVR1 mutations

Neuropathology (Kyoto. 1993), 2023
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by extensive heterotopic ossification of soft tissue structures leading to severe limitations in movement.
J. Kresak, Meggen Walsh, Anthony Tuzzolo, Zehra Ordulu, J. Gregory   +4 more
semanticscholar   +1 more source

Acvr2b receptors transduce all BMP signaling in the zebrafish gastrula and restrict Fibrodysplasia Ossificans Progressiva ACVR1-R206H signaling in a dose-dependent manner

bioRxiv
BMP signaling drives dorsoventral (DV) axial patterning in vertebrates and invertebrates, with BMP dimers recruiting tetrameric receptor complexes to phosphorylate SMADs that activate ventral target gene expression.
Jeet H. Patel, Benjamin Tajer, Jira White, Finn Warrick, Mary C. Mullins   +4 more
semanticscholar   +1 more source