Piezo1 links mechanical forces to red blood cell volume
Red blood cells (RBCs) experience significant mechanical forces while recirculating, but the
consequences of these forces are not fully understood. Recent work has shown that gain-of …
consequences of these forces are not fully understood. Recent work has shown that gain-of …
Phenolyzer: phenotype-based prioritization of candidate genes for human diseases
Prior biological knowledge and phenotype information may help to identify disease genes
from human whole-genome and whole-exome sequencing studies. We developed …
from human whole-genome and whole-exome sequencing studies. We developed …
Cohort profile: Estonian biobank of the Estonian genome center, university of Tartu
Abstract The Estonian Biobank cohort is a volunteer-based sample of the Estonian resident
adult population (aged≥ 18 years). The current number of participants—close to 52000 …
adult population (aged≥ 18 years). The current number of participants—close to 52000 …
ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders
MJ King, L Garçon, JD Hoyer, A Iolascon… - … journal of laboratory …, 2015 - Wiley Online Library
Introduction Hereditary spherocytosis (HS), hereditary elliptocytosis (HE), and hereditary
stomatocytosis (HSt) are inherited red cell disorders caused by defects in various membrane …
stomatocytosis (HSt) are inherited red cell disorders caused by defects in various membrane …
Shared genetic basis for migraine and ischemic stroke: a genome-wide analysis of common variants
Objective: To quantify genetic overlap between migraine and ischemic stroke (IS) with
respect to common genetic variation. Methods: We applied 4 different approaches to large …
respect to common genetic variation. Methods: We applied 4 different approaches to large …
A genome-wide association study of saturated, mono-and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study
Most genome-wide association studies have explored relationships between genetic
variants and plasma phospholipid fatty acid proportions, but few have examined apparent …
variants and plasma phospholipid fatty acid proportions, but few have examined apparent …
Multiple functional variants in long-range enhancer elements contribute to the risk of SNP rs965513 in thyroid cancer
H He, W Li, S Liyanarachchi… - Proceedings of the …, 2015 - National Acad Sciences
The [A] allele of SNP rs965513 in 9q22 has been consistently shown to be highly associated
with increased papillary thyroid cancer (PTC) risk with an odds ratio of∼ 1.8 as determined …
with increased papillary thyroid cancer (PTC) risk with an odds ratio of∼ 1.8 as determined …
Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels
We report genome-wide association study results for the levels of A1, A2 and fetal
hemoglobins, analyzed for the first time concurrently. Integrating high-density array …
hemoglobins, analyzed for the first time concurrently. Integrating high-density array …
Cross cancer genomic investigation of inflammation pathway for five common cancers: lung, ovary, prostate, breast, and colorectal cancer
Background: Inflammation has been hypothesized to increase the risk of cancer
development as an initiator or promoter, yet no large-scale study of inherited variation …
development as an initiator or promoter, yet no large-scale study of inherited variation …
Erythropoietin in the general population: reference ranges and clinical, biochemical and genetic correlates
N Grote Beverborg, N Verweij, IJT Klip… - PLoS …, 2015 - journals.plos.org
Background Although erythropoietin has been used for decades in the treatment of anemia,
data regarding endogenous levels in the general population are scarce. Therefore, we …
data regarding endogenous levels in the general population are scarce. Therefore, we …