Topic · Genetics · Medicine
OpenAlex topic; a paper is listed when OpenAlex scores it at least 0.5 for this topic.
35 papers
Stephen P. Chapman, Estelle Duprez, Élisabeth Rémy
The paper constructs a logical model of the myelofibrotic microenvironment to predict how TPO and TLR signaling disrupt stem cell crosstalk and drive disease progression.
Biosystems · Sep 1, 2023Peer-reviewedSystems Biology
Zhu Shen, Wenfei Du, Cecelia Perkins, Lenn Fechter, Vanita S. Natu, Holden Terry Maecker, Jesse W. Rowley, Jason R. Gotlib, James L. Zehnder, Anandi Krishnan
The paper identifies platelet transcriptome markers for predicting disease progression in MPNs and develops a machine learning model to predict advanced MF with high accuracy.
Blood · Nov 5, 2021Peer-reviewedGenomics
Melissa A. Castiglione, Yaping Jiang, Christopher Mazzeo, Sandy Lee, Juei‐Suei Chen, Kenneth Kaushansky, Wei Yin, Richard Z. Lin, Haoyi Zheng, Huichun Zhan
This study shows that JAK2V617F mutation in endothelial cells causes thrombosis, vasculopathy, and cardiomyopathy in a murine MPN model, suggesting targeting vasculature as a therapeutic strategy.
Journal of Thrombosis and Haemostasis · Sep 22, 2020Peer-reviewedMolecular Biology
Sahar G. Elbager, Abier Abdelaziz Makkawi Abdelrahman, Hadeel A. Mohamed, Fauzia A. Abdelrahman, Lamia H. Osman, Moroj F. Hameed, Asia M. Elrashid, Mohamed Y. Basher, Safinaz I. Khalil, Magdi Bayoumi
The paper performs in silico analysis of missense variants in the MPL gene to identify those with potential functional impact on TPO-R structure and function in essential thrombocythemia.
bioRxiv · Nov 4, 2019 · PreprintBioinformatics
Erik L. Bao, Satish Kumar Nandakumar, Xiaotian Liao, Alexander G. Bick, Juha M Karjalainen, Marcin Tabaka, Olga I. Gan, Aki Samuli Havulinna, Tuomo Kiiskinen, Caleb A. Lareau, Aitzkoa Lopez de Lapuente Portilla, Bo Li, Connor A. Emdin, Veryan Codd, Christopher P. Nelson, , Vijay G. Sankaran
This study identifies 14 genome-wide significant loci and a polygenic signature for myeloproliferative neoplasms, implicating hematopoietic stem cell function and self-renewal in disease risk.
bioRxiv · Oct 8, 2019 · PreprintGenetics