Results 91 to 100 of about 79,208 (292)

Epilepsy‐associated SCN2A‐L1342P mutation drives network hyperexcitability and widespread transcriptomic changes in human cortical organoids

Epilepsia, EarlyView.
Abstract Objective SCN2A pathogenic mutations, such as the recurrent heterozygous Nav1.2‐L1342P, are monogenic causes of epilepsy. In this human‐induced pluripotent stem cell–derived model system, we aim to investigate the molecular and cellular mechanisms underlying SCN2A‐L1342P‐associated pathology. Methods Using a human male induced pluripotent stem
Maria I. Olivero‐Acosta, Morgan Robinson, Zhefu Que, Zaiyang Zhang, Karen V. Salazar‐Salazar, Hope Elizabeth Harlow, Vinayak Shankar, Seoyeon Hong, Muhan Wang, Conrad M. Otterbacher, Hina Kadono, Manasi Halurkar, Harish Kothandaraman, Nadia Atallah Lanman, Trang Nguyen, Kyle Wettschurack, Benjamin Zirkle, Layan Yunis, Ningren Cui, Xiaoling Chen, Jingliang Zhang, Jiaxiang Wu, William C. Skarnes, Chongli Yuan, Feng Guo, Megan Abbott, Yang Yang   +26 more
wiley   +1 more source

Associations of CYLD, JAK2 and TLR4 Genotypes with PSA Levels and Immunophenotype in Benign Prostatic Hyperplasia and Prostate Cancer

Frontiers in Bioscience-Landmark
Background: Prostate cancer (PCa) is one of the most common malignant tumors of the male urinary system, and its incidence and mortality rates have been increasing worldwide.
Le Vu Duy, Pham Thi Huong, Nguyen Trung Nam, Do Thi Trang, Nghiem Thi Minh Chau, Tran Thi Phuong Thao, Nguyen Huy Hoang, Nguyen Thien Tao, Can Van Mao, Nguyen Thi Xuan   +9 more
doaj   +1 more source

Molecular basis of JAK2 activation in erythropoietin receptor and pathogenic JAK2 signaling

Science Advances
Janus kinase 2 (JAK2) mediates type I/II cytokine receptor signaling, but JAK2 is also activated by somatic mutations that cause hematological malignancies by mechanisms that are still incompletely understood. Quantitative superresolution microscopy (qSMLM) showed that erythropoietin receptor (EpoR) exists as monomers and dimerizes upon Epo stimulation
Bobin George Abraham, Teemu Haikarainen, Joni Vuorio, Mykhailo Girych, Anniina T. Virtanen, Antti Kurttila, Christos Karathanasis, Mike Heilemann, Vivek Sharma, Ilpo Vattulainen, Olli Silvennoinen   +10 more
openaire   +5 more sources

Multi‐Cohort Analysis Reveals Genetic Predispositions to Clonal Hematopoiesis as Mutation‐Specific Risk Factors for Stroke

Advanced Genetics, Volume 6, Issue 1, March 2025.
This study comprehensively evaluated the differential effect of clonal hematopoiesis (CH) mutations on the risk of various stroke subtypes and functional recovery. It shows that TET2 is associated with small vessel stroke possibly via a pro‐inflammatory pathway. Abstract Recent observational studies have found an association between Clonal Hematopoesis
Shuyang Lin, Yang E. Li, Yan Wang
wiley   +1 more source

Beyond Ruxolitinib: Fedratinib and Other Emergent Treatment Options for Myelofibrosis

Cancer Management and Research, 2019
Jan Philipp Bewersdorf,1 Sara Mohamed Jaszczur,2 Salma Afifi,2 Jennifer C Zhao,2 Amer M Zeidan1,3 1Department of Internal Medicine, Section of Hematology, Yale School of Medicine, New Haven, CT, USA; 2Department of Pharmacy, Yale New Haven Hospital, New ...
Bewersdorf JP, Jaszczur SM, Afifi S, Zhao JC, Zeidan AM   +4 more
doaj  

Two routes to leukemic transformation after a JAK2 mutation-positive myeloproliferative neoplasm

, 2010
Acute myeloid leukemia (AML) may follow a JAK2-positive myeloproliferative neoplasm (MPN), although the mechanisms of disease evolution, often involving loss of mutant JAK2, remain obscure.
Chen, Edwin, Kusec, Rajko, McMullin, Mary Frances, Harrison, Claire N, Beer, P.A., Vainchenker, W., Delhommeau, François, Lecouedic, J.P., Dawson, Mark A, Delhommeau, F., Vannucchi, A., Kusec, R., McMullin, M.F., Vainchenker, William, Vannucchi, Alessandro M, Beer, Philip A, Chen, E., Bareford, D., LeCouédic, Jean-Pierre, Bareford, David, Harrison, C.N., Green, A.R., Green, Anthony R, Dawson, M.A.   +23 more
core   +1 more source

JAK2-tree:a simple CBC-based decision rule to guide appropriate JAK2 V617F mutation testing [PDF]

, 2019
AIMS: The JAK2 V617F mutation is highly recurrent in many of the myeloproliferative neoplasms, a molecular variant that can be easily detected using sensitive and minimally invasive techniques.
Lynch, Tarah, Bojesen, Stig Egil, Pedersen, Kasper Mønsted, Khan, Faisal, Shabani-Rad, Meer-Taher, Çolak, Yunus, Mahe, Etienne, Sinclair, Gary   +7 more
core   +1 more source

Research progress on the role of inflammatory mediators in the pathogenesis of epilepsy

Ibrain, Volume 11, Issue 1, Page 44-58, Spring 2025.
In the central nervous system, activated immune cells lead to the overproduction of inflammatory mediators through the corresponding signal pathway. Under the stimulation of inflammatory factors, neuroinflammation ultimately occurs. Overexpression of inflammatory mediators and activated immunocytes plays an important role in the emergence and ...
Yue Yu, Fei‐Ji Sun
wiley   +1 more source

Nuclear JAK2 [PDF]

Blood, 2011
Mark A, Dawson, Andrew J, Bannister, Lindsay, Saunders, Omar-Abdel, Wahab, Fan, Liu, Stephen D, Nimer, Ross L, Levine, Berthold, Göttgens, Tony, Kouzarides, Anthony R, Green   +9 more
openaire   +2 more sources

Gene signatures characterizing driver mutations in lung squamous carcinoma are predictive of the progression of pre‐cancer lesions

International Journal of Cancer, EarlyView.
What's New? Lung squamous cell carcinoma (LUSC) is more aggressive than lung adenocarcinoma, and is most often diagnosed at an advanced stage. Here, the authors evaluated gene expression data from LUSC tumors and came up with gene signatures for 34 genetic abnormalities whose expression changes throughout different precancerous stages. Several of these
Yupei Lin, Venugopalareddy Mekala, Jianrong Li, Xiang Wang, Muhammad Aminu, Jia Wu, Jianjun Zhang, Robert Taylor Ripley, Christopher I. Amos, Chao Cheng   +9 more
wiley   +1 more source