High resolution melting analysis: a rapid screening and typing tool for common β-thalassemia mutation in Chinese population. [PDF]
PLoS ONE, 2014 β-thalassemia is a common inherited disorder worldwide including southern China, and at least 45 distinct β-thalassemia mutations have been identified in China.
Min Lin +19 more
doaj +1 more source
Genome-wide SNP typing of ancient DNA: Determination of hair and eye color of Bronze Age humans from their skeletal remains. [PDF]
, 2020 Objective A genome-wide high-throughput single nucleotide polymorphism (SNP) typing method was tested with respect of the applicability to ancient and degraded DNA. The results were compared to mini-sequencing data achieved through single base extension (
Dörk, T. +5 more
core +2 more sources
Analysis of the mutations in exon 10 of MEFV gene in patients with premature coronary heart disease in west Azerbaijan province of Iran [PDF]
Journal of Cardiovascular and Thoracic Research, 2018 Introduction: Premature coronary heart disease (PCHD) affects public health and leads to death. PCHD has several genetic and environmental risk factors. The aim of this study was to analysis of the mutations in exon 10 of MEFV gene in patients with PCHD ...
Morteza Bagheri +7 more
doaj +1 more source
A saturated genetic linkage map of autotetraploid alfalfa (Medicago sativa L.) developed using genotyping-by-sequencing is highly syntenous with the Medicago truncatula genome. [PDF]
, 2014 A genetic linkage map is a valuable tool for quantitative trait locus mapping, map-based gene cloning, comparative mapping, and whole-genome assembly. Alfalfa, one of the most important forage crops in the world, is autotetraploid, allogamous, and highly
Acharya, Ananta +5 more
core +2 more sources
Oral health in two heterozygote female twins with congenital lactic acidosis [PDF]
, 2017 Introduction: Congenital lactic acidosis (CLA) is a rare disease caused by mutations in Mithocondrial DNA (mtDNA), which affects the ability of cells to use energy that causes accumulation of lactic acid in the body.
GUERRA, Fabrizio +4 more
core +1 more source
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
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
Multiple-locus heterozygosity, physiology and growth at two different stages in the life cycle of the Chilean oyster Ostrea chilensis [PDF]
, 1996 A random sample of 150 individuals of a laboratory-produced cohort of Ostrea chilensis Philippi, 1845 was taken at 10 and 36 mo of age to estimate physiological variables and individual heterozygosity using 4 loci (Lap, Pgi, Pgm and Ca).
Gallegillos, R. +2 more
core +2 more sources
FEBS Open Bio, EarlyView.We found that during chemotherapy‐induced alopecia (CIA), Sonic hedgehog (Shh) expression significantly decreased in hair follicle Shh+ cells, whereas the Janus‐activated kinase/signal transducer and activator of transcription 1 (JAK/STAT1) signaling pathway was markedly activated.
Ruifang Fan +6 more
wiley +1 more source
Detection of Phenylketonuric Heterozygotes
Clinical Chemistry, 1971 Abstract Estimation of plasma phenylalanine and tyrosine by an abridged (30 min) column chromatography procedure was assessed. Plasma phenylalanine and tyrosine concentrations, determined in 112 phenylketonuric obligate heterozygotes and in 88 normal controls, did not differ significantly from other reported series in which the data were
S H, Jackson +3 more
openaire +2 more sources