Scientific Reports, 2022 The present study was carried out, for the first time, to evaluate the association of rs2268458 polymorphism, biochemical and environmental factors on hypothyroid and hyperthyroid disorders in thyroid patients and healthy individuals in Yazd province ...
Fahime Sadat Naghibi +2 more
doaj +1 more source
EPHX1 and GSTP1 polymorphisms are associated with COPD risk: a systematic review and meta-analysis
Frontiers in Genetics, 2023 Background: Chronic obstructive pulmonary disease (COPD) affects approximately 400 million people worldwide and is associated with high mortality and morbidity.
Qinjun Yang +12 more
doaj +1 more source
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling [PDF]
, 2007 Large brain size is one of the defining characteristics of modern humans. Seckel syndrome (MIM 210600), a disorder of markedly reduced brain and body size, is associated with defective ATR-dependent DNA damage signaling.
A Kramer +42 more
core +4 more sources
Journal of Pure and Applied Microbiology, 2018 Growth differentiation factor 9 (GDF9) is play a critical role in ovarian follicular development and ovulation rate. The present research was performed to investigate the correlation between single nucleotide polymorphism (SNP) of GDF9 gene and ...
H. Al-Mutar, L. Younis, H. Khawla
doaj +1 more source
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation [PDF]
, 2010 Objective Mitochondrial disturbances of energy-generating systems in childhood are a heterogeneous group of disorders. The aim of this multi-site survey was to characterise the natural course of a novel mitochondrial disease with ATP synthase deficiency ...
Bodamer, O +15 more
core +2 more sources
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
Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis. [PDF]
, 2012 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a devastating autosomal recessive disorder due to mutations in TYMP, which cause loss of function of thymidine phosphorylase (TP), nucleoside accumulation in plasma and tissues and ...
Bax, BE +9 more
core +3 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
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