Results 41 to 50 of about 114,605 (302)
Two rare hemoglobin variants in the Çukurova Region of Turkey: Hb E-Saskatoon and Hb G-Coushatta
Turkish Journal of Hematology, 2011 Hb E-Saskatoon and Hb G-Coushatta are rare hemoglobin variants that are not a health problem. Herein we present a Turkish woman that was diagnosed as homozygous Hb E-Saskatoon (only the second such case reported from Turkey) and a Turkish boy diagnosed ...
Ahmet Genç, Mehmet Akif Çürük
doaj +3 more sources
Quantifying single nucleotide variant detection sensitivity in exome sequencing [PDF]
, 2013 BACKGROUND: The targeted capture and sequencing of genomic regions has rapidly demonstrated its utility in genetic studies. Inherent in this technology is considerable heterogeneity of target coverage and this is expected to systematically impact our ...
A McKenna +34 more
core +2 more sources
Advanced Science, EarlyView.A comprehensive meta‐analysis of expression quantitative trait loci (eQTLs) across five diverse tomato populations reveals a high‐resolution atlas of transcriptional regulation and uncovers conserved and population‐specific regulatory architectures underlying fruit nutritional quality traits, including flavonoids, sugars, organic acids, carotenoids ...
Jiantao Zhao +14 more
wiley +1 more source
ALKBH3 m1A Demethylase Deficiency Reduces Alzheimer's Amyloid‐β Pathology
Advanced Science, EarlyView.This study identifies that ALKBH3‐driven m1A demethylation orchestrates Alzheimer's disease progression by disrupting mitochondrial and synaptic homeostasis. This epitranscriptomic mechanism suppresses PINK1‐mediated mitophagy via m1A erasure, leading to mitochondrial dysfunction, oxidative stress, elevated Aβ production, and impaired microglial ...
Yueyang Li +25 more
wiley +1 more source
A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran
Human Genome Variation, 2023 A 30-year-old male couple from Ardabil city, Iran, were admitted for premarital screening. An abnormal band in HbS/D regions with high levels of HbF and HbA 2 led us to suspect the possibility of a compound heterozygous state of β-thalassemia in our ...
Narges Soozangar +4 more
doaj +1 more source
Autosegregation of enzyme loci Me1 and Gpi2 in agamospermous progenies of triploid sugarbeet plants [PDF]
, 2010 Ratios of malic-enzyme (ME1) and glucosephosphate isomerase (GPI2) phenotypic classes were studied in agamospermous progenies of triploid sugar beet plants.
Evgenii Levites, Svetlana Kirikovich
core +1 more source
Advanced Science, EarlyView.Biological rhythms coordinate physiology, from genes to behavior. Study of circadian rhythms in brain tissue is constrained by limited throughput and spatial and temporal information quality. A new platform for high‐throughput, long‐term multiplexed fluorescent live imaging of circadian rhythms in brain slices is introduced.
Marco Ferrari +3 more
wiley +1 more source
Frontiers in Genetics, 2021 Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) caused by mutations in GTPBP3 gene is a rare mitochondrial disease, and this disorder identified from the Chinese population has not been described thus far.
Hui-ming Yan +20 more
doaj +1 more source
Under-dominance constrains the evolution of negative autoregulation in diploids [PDF]
, 2013 Regulatory networks have evolved to allow gene expression to rapidly track changes in the environment as well as to buffer perturbations and maintain cellular homeostasis in the absence of change.
Pomiankowski, A +3 more
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro +10 more
wiley +1 more source