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Identification of EPOR and JAK2 double heterozygous variants in twin cases with familial erythrocytosis.
Sci China Life Sci
December 2024
Department of Hematology, Qinghai Provincial People's Hospital, Xining, 810007, China.
Identification of novel proteins for coronary artery disease by integrating GWAS data and human plasma proteomes.
Heliyon
October 2024
Department of Emergency Medicine, Qilu Hospital of Shandong University, Shandong University, Jinan, 250012, Shandong, China.
Background: Most coronary artery disease (CAD) risk loci identified by genome-wide association studies (GWAS) are located in non-coding regions, hampering the interpretation of how they confer CAD risk. It is essential to integrate GWAS with molecular traits data to further explore the genetic basis of CAD.
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A surrogate molecular approach for the detection of Philadelphia chromosome-like B-acute lymphoblastic leukemia.
Cancer
March 2024
Department of Internal Medicine, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Background: Philadelphia chromosome (Ph)-like B-acute lymphoblastic leukemia (B-ALL) is a clinically significant, high-risk genetic subtype of B-ALL cases. There are few data on the incidence, characterization, and treatment outcomes of Ph-like ALL cases from low- and middle-income countries. There is a pressing need to establish a well-organized/cost-effective approach for identifying Ph-like ALL instances.
View Article and Find Full Text PDFShared and Distinctive Transcriptomic and Proteomic Pathways in Adult and Juvenile Dermatomyositis.
Arthritis Rheumatol
November 2023
Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences, NIH, Bethesda, Maryland and Research Triangle, Park, North Carolina.
Objective: Transcript and protein expression were interrogated to examine gene locus and pathway regulation in the peripheral blood of active adult dermatomyositis (DM) and juvenile DM patients receiving immunosuppressive therapies.
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Philadelphia-Like Genetic Rearrangements in Adults With B-Cell ALL: Refractoriness to Chemotherapy and Response to Tyrosine Kinase Inhibitor in Class Rearrangements.
JCO Precis Oncol
May 2023
Department of Leukemia, University of Texas MD Anderson Cancer Center, Houston, TX.
Article Synopsis
- Philadelphia-like (Ph-like) B-cell acute lymphoblastic leukemia (ALL) is a high-risk subtype that mimics Ph-positive ALL in gene expression but lacks a fusion; genetic fusions in some patients may respond to tyrosine kinase inhibitors (TKIs).
- A study at MD Anderson Cancer Center analyzed patients with B-cell ALL to detect recurrent genetic fusions typically found in Ph-like ALL, focusing on those treated with TKIs.
- Out of 23 patients identified with genetic fusions, many were cryptic and only detectable through specialized assays; TKI treatment showed promising results, especially for those with specific fusions, indicating the potential for improved outcomes with early TKI initiation and necessitating further research.
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