Results 211 to 220 of about 237,257 (291)

Whole Blood Transcriptomic Analysis of Sickle Cell Trait

open access: yesEuropean Journal of Haematology, EarlyView.
ABSTRACT Sickle cell trait (SCT) is the heterozygous carrier state for the HBB missense variant which causes sickle cell disease (SCD). SCT has been associated with increased risk of venous thromboembolism and chronic kidney disease as well as alterations in clinical laboratory parameters. To investigate differential gene expression in SCT, we used RNA
Mari Johnson   +12 more
wiley   +1 more source

Genetic risk factor identification for common epilepsies guided by integrative omics data analysis

open access: yesEpilepsia, EarlyView.
Abstract Objective Genetic generalized epilepsies (GGEs) comprise the most common genetically determined epilepsy syndromes, following a complex mode of inheritance. Although many important common and rare genetic factors causing or contributing to these epilepsies have been identified in the past decades, many features of the genetic architecture are ...
Ashwini Mushunuri   +9 more
wiley   +1 more source

Molecular detection of pathogens in an equine fever diagnostic panel: 2019–2023

open access: yesEquine Veterinary Journal, EarlyView.
Abstract Background A common diagnostic approach for febrile horses is to test for a panel of potential pathogens. Panels are curated by expert opinion and vary between diagnostic laboratories. Objectives To report the results of a newly developed equine fever diagnostic panel (EFDP) between 2019 and 2023 and evaluate the frequency of positive results.
Toby L. Pinn‐Woodcock   +3 more
wiley   +1 more source

Anemia‐associated mutations disrupt the CDIN1‐Codanin1 complex in inherited congenital dyserythropoietic anemia I (CDA‐I) disease

open access: yesThe FEBS Journal, EarlyView.
Congenital dyserythropoietic anemia type I (CDA‐I) arises from mutations in Codanin1 and CDIN1. Using quantitative biophysical approaches, we show that disease‐associated mutations disrupt the CDIN1‐Codanin1 complex. Our findings provide critical insights into the molecular mechanism that links protein dysfunction to disturbing chromatin arrangement ...
Martin Stojaspal   +8 more
wiley   +1 more source

Anemia, Iron Deficiency, and Iron Supplementation in Relation to Mortality among HIV-Infected Patients Receiving Highly Active Antiretroviral Therapy in Tanzania. [PDF]

open access: yesAm J Trop Med Hyg, 2019
Haider BA   +9 more
europepmc   +1 more source

Safety and Effectiveness of Emicizumab in People With Haemophilia A Enrolled in the ATHN 7 Haemophilia Natural History Study

open access: yesHaemophilia, EarlyView.
ABSTRACT Background The Natural History Study of the Safety, Effectiveness, and Practice of Treatment for People with Haemophilia (ATHN 7) monitors use of contemporary haemophilia therapies, including emicizumab, a bispecific antibody substituting for activated factor (F)VIII in people with haemophilia A (HA).
Tyler W. Buckner   +12 more
wiley   +1 more source

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