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Chapter
Expression of Human Erythrocyte Membrane Protein Antigens during Erythroid Differentiation
Recent advances in hybridoma technology, fluorescence-activated cell sorting, and bone marrow culture techniques have led to investigations of the manner in which blood group antigens and other cell surface mo...
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Chapter
Lutheran Antigens, Lutheran Regulatory Genes, and Lutheran Regulatory Gene Targets
The Lutheran blood group is a family of red cell polymorphisms comprising at least two major alleles, Lu a and Lu b. Lutheran antigens are for the most part clinically insignificant, a...
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Article
Molecular interactions of B-CAM (basal-cell adhesion molecule) and laminin in epithelial skin cancer
Molecular events underlying the progression of malignant tumors through the surrounding tissue are largely mediated by membrane-bound adhesion molecules. Basal-cell adhesion molecule (B-CAM), a 90-kDa laminin ...
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Article
Open AccessValidation of a novel point of care testing device for sickle cell disease
Sickle cell disease is one of the most common inherited blood disorders. Universal screening and early intervention have significantly helped to reduce childhood mortality in high-resource countries. However, ...
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Article
Open AccessA comprehensive joint analysis of the long and short RNA transcriptomes of human erythrocytes
Human erythrocytes are terminally differentiated, anucleate cells long thought to lack RNAs. However, previous studies have shown the persistence of many small-sized RNAs in erythrocytes. To comprehensively de...
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Article
Therapeutic strategies for sickle cell disease: towards a multi-agent approach
For over 100 years, clinicians and scientists have been unravelling the consequences of the A to T substitution in the β-globin gene that produces haemoglobin S, which leads to the systemic manifestations of s...
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Article
Open AccessLoss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease
Pharmaceutical drugs targeting dyslipidemia and cardiovascular disease (CVD) may increase the risk of fatty liver disease and other metabolic disorders. To identify potential novel CVD drug targets without the...
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Article
Open AccessFeasibility of and barriers to thalassemia screening in migrant populations: a cross-sectional study of Myanmar and Cambodian migrants in Thailand
Thalassemia, an inherited hemoglobin disorder, has become a global public health problem due to population migration. Evidence-based strategies for thalassemia prevention in migrants are lacking. We characteri...
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Article
Open AccessIdentification of optimal thalassemia screening strategies for migrant populations in Thailand using a qualitative approach
Thalassemia is a common inherited hemoglobin disorder in Southeast Asia. Severe thalassemia can lead to significant morbidity for patients and economic strain for under-resourced health systems. Thailand’s tha...
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Article
Rare genetic variants explain missing heritability in smoking
Common genetic variants explain less variation in complex phenotypes than inferred from family-based studies, and there is a debate on the source of this ‘missing heritability’. We investigated the contributio...
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Article
Open AccessGenetic diversity fuels gene discovery for tobacco and alcohol use
Tobacco and alcohol use are heritable behaviours associated with 15% and 5.3% of worldwide deaths, respectively, due largely to broad increased risk for disease and injury1–4. These substances are used across the...
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Article
Open AccessMulti-ancestry transcriptome-wide association analyses yield insights into tobacco use biology and drug repurposing
Most transcriptome-wide association studies (TWASs) so far focus on European ancestry and lack diversity. To overcome this limitation, we aggregated genome-wide association study (GWAS) summary statistics, who...
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Article
Management of Older Adults with Sickle Cell Disease: Considerations for Current and Emerging Therapies
People with sickle cell disease (SCD) are living longer than ever before, with the median survival increasing from age 14 years in 1973, beyond age 40 years in the 1990s, and as high as 61 years in recent coho...
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Article
Open AccessValidation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes
Genome-wide association studies (GWAS) have become well-powered to detect loci associated with telomere length. However, no prior work has validated genes nominated by GWAS to examine their role in telomere le...
