[HTML][HTML] Erythropoietin regulation of red blood cell production: From bench to bedside and back
SV Bhoopalan, LJ Huang, MJ Weiss - F1000Research, 2020 - ncbi.nlm.nih.gov
More than 50 years of efforts to identify the major cytokine responsible for red blood cell
(RBC) production (erythropoiesis) led to the identification of erythropoietin (EPO) in 1977 …
(RBC) production (erythropoiesis) led to the identification of erythropoietin (EPO) in 1977 …
PhenomeXcan: Mapping the genome to the phenome through the transcriptome
Large-scale genomic and transcriptomic initiatives offer unprecedented insight into complex
traits, but clinical translation remains limited by variant-level associations without biological …
traits, but clinical translation remains limited by variant-level associations without biological …
GATA1 mutations in red cell disorders
T Ling, JD Crispino - IUBMB life, 2020 - Wiley Online Library
GATA1 is an essential regulator of erythroid cell gene expression and maturation. In its
absence, erythroid progenitors are arrested in differentiation and undergo apoptosis. Much …
absence, erythroid progenitors are arrested in differentiation and undergo apoptosis. Much …
[HTML][HTML] Mosaic chromosome Y loss is associated with alterations in blood cell counts in UK Biobank men
Mosaic loss of Y chromosome (mLOY) is the most frequently detected somatic copy number
alteration in leukocytes of men. In this study, we investigate blood cell counts as a potential …
alteration in leukocytes of men. In this study, we investigate blood cell counts as a potential …
Common variants in signaling transcription-factor-binding sites drive phenotypic variability in red blood cell traits
Genome-wide association studies identify genomic variants associated with human traits
and diseases. Most trait-associated variants are located within cell-type-specific enhancers …
and diseases. Most trait-associated variants are located within cell-type-specific enhancers …
[HTML][HTML] Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis
GR Oskarsson, A Oddsson, MK Magnusson… - Communications …, 2020 - nature.com
Hemoglobin is the essential oxygen-carrying molecule in humans and is regulated by
cellular iron and oxygen sensing mechanisms. To search for novel variants associated with …
cellular iron and oxygen sensing mechanisms. To search for novel variants associated with …
Tetrabromobisphenol A perturbs erythropoiesis and impairs blood circulation in zebrafish embryos
S Pang, Y Gao, A Li, X Yao, G Qu, L Hu… - Environmental …, 2020 - ACS Publications
Tetrabromobisphenol A (TBBPA), a ubiquitous environmental pollutant, has been implicated
in developmental toxicity of aquatic animals. However, the impact of TBBPA on development …
in developmental toxicity of aquatic animals. However, the impact of TBBPA on development …
[HTML][HTML] Ancestry-specific associations identified in genome-wide combined-phenotype study of red blood cell traits emphasize benefits of diversity in genomics
Background Quantitative red blood cell (RBC) traits are highly polygenic clinically relevant
traits, with approximately 500 reported GWAS loci. The majority of RBC trait GWAS have …
traits, with approximately 500 reported GWAS loci. The majority of RBC trait GWAS have …
Identification of circulating proteins associated with blood pressure using Mendelian randomization
Background: Hypertension is a common modifiable risk factor for cardiovascular disease
and mortality. Pathophysiological mechanisms leading to hypertension remain incompletely …
and mortality. Pathophysiological mechanisms leading to hypertension remain incompletely …
In the blood: connecting variant to function in human hematopoiesis
Genome-wide association studies (GWAS) have identified thousands of genetic variants
associated with a range of human diseases and traits. However, understanding the …
associated with a range of human diseases and traits. However, understanding the …