Results 71 to 80 of about 82,601 (269)

Clinical Validation of Four Point‐of‐Care High‐Risk HPV Assays, Including Two Reduced‐Valency Assays, for Cervical Cancer Screening in Low‐Resource Settings

open access: yesInternational Journal of Cancer, EarlyView.
High‐risk human papillomavirus (hrHPV) testing improves cervical cancer screening by facilitating earlier detection and prevention. In low‐resource settings, however, cost and increased referrals limit its use. At the same time, many new and more affordable assays lack validation.
Neerja Bhatla   +28 more
wiley   +1 more source

CRISPR-Cas9 interrogation of a putative fetal globin repressor in human erythroid cells.

open access: yesPLoS ONE, 2019
Sickle Cell Disease and ß-thalassemia, which are caused by defective or deficient adult ß-globin (HBB) respectively, are the most common serious genetic blood diseases in the world. Persistent expression of the fetal ß-like globin, also known as 𝛾-globin,
Jennifer E Chung   +11 more
doaj   +1 more source

siRNA-mediated reduction of α-globin results in phenotypic improvements in β-thalassemic cells

open access: yesHaematologica, 2008
β-thalassemia is an inherited hemoglobinopathy caused by defective synthesis of the β-globin chain of hemoglobin, leading to imbalanced globin chain synthesis.
Hsiao Phin Joanna Voon   +2 more
doaj   +1 more source

Erythroid-specific expression of β-globin from Sleeping Beauty-transduced human hematopoietic progenitor cells. [PDF]

open access: yesPLoS ONE, 2011
Gene therapy for sickle cell disease will require efficient delivery of a tightly regulated and stably expressed gene product to provide an effective therapy. In this study we utilized the non-viral Sleeping Beauty (SB) transposon system using the SB100X
Lucas M Sjeklocha   +8 more
doaj   +1 more source

Template Activity for Globin and Non-Globin Protein Synthesis in Reticulocytes

open access: yesJournal of Biological Chemistry, 1972
Factors which control the rate of synthesis of two distinct classes of protein, globin and non-globin proteins, by free reticulocyte ribosomes have been investigated. Three different inhibitors of protein synthesis, puromycin, cycloheximide, and hydroxylamine, were more effective in inhibiting the synthesis of globin than of non-globin protein by free ...
S I, Bulova, E R, Burka
openaire   +2 more sources

First Report of Co‐Inheritance of Hemoglobin British Columbia (HBB:c.304G>A) and β‐Thalassemia IVS‐I‐6 (HBB:c.92+6T>C): Clinical Characterization of an Iranian Case

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
ABSTRACT Background Hemoglobin British Columbia is a rare high‐oxygen‐affinity β‐globin variant caused by the HBB:c.304G>A substitution. Its detection is exceptionally uncommon, particularly in the Middle East, and may lead to diagnostic pitfalls when relying solely on hemoglobin separation techniques.
Kimia Fathalizade   +5 more
wiley   +1 more source

Performance Evaluation of a Premier Resolution HPLC System for Detecting Hemoglobin Constant Spring, Hemoglobin Paksé, and Coexisting α‐ and β‐Thalassemia Mutations

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
This study compared Premier Resolution HPLC with Capillary Electrophoresis for detecting HbCS/Hb Paksé variants and coexisting thalassemia mutations. Premier Resolution HPLC demonstrated superior performance with 50% fewer false negative cases (11 vs. 22) compared to Capillary Electrophoresis, particularly in heterozygous cases.
Surada Satthakarn   +2 more
wiley   +1 more source

Beta‐Thalassemia in Spain: Results From the National Thalassemia Registry and Molecular Analysis of Patients With Transfusion‐Dependent Thalassemia

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
This nationwide registry‐based study describes the clinical and molecular characteristics of 78 patients with transfusion‐dependent beta‐thalassemia in Spain. Comprehensive genetic analysis revealed marked molecular heterogeneity, with 24 HBB mutations identified and a predominance of β0 genotypes, alongside generally effective transfusion and iron ...
Ana Villegas   +41 more
wiley   +1 more source

The regulation of ζ-globin expression: Understanding how ζ-globin is expressed and silenced

open access: yes, 2019
Expression of the embryonic α-like globin gene, ζ-globin, is limited to the early stages of primitive erythropoiesis. Under normal circumstances it is completely silenced in definitive erythroid cells, despite lying adjacent to a “super-enhancer ...
King, Andrew
core   +1 more source

Mild dyserythropoiesis and β-like globin gene expression imbalance due to the loss of histone chaperone ASF1B

open access: yesHuman Genomics, 2020
The expression of the human β-like globin genes follows a well-orchestrated developmental pattern, undergoing two essential switches, the first one during the first weeks of gestation (ε to γ), and the second one during the perinatal period (γ to β). The
Petros Papadopoulos   +15 more
doaj   +1 more source

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