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
Chromatogram showing the SF-1014 (i.e., L1014S) heterozygote in the Conaway strain mosquitoes.
, 2022 Chromatogram showing the SF-1014 (i.e., L1014S) heterozygote in the Conaway strain mosquitoes.
Kelli M. Hager (13215298) +8 more
core +1 more source
Plant Signaling & Behavior, 2020 Successful reproduction in angiosperms is dependent on the highly synchronous development of their male and female gametophytes and the ensuing fusion of the gametes from these reproductive tissue types.
Subramanian Sankaranarayanan +4 more
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Hypersensitivity of BRCA1 heterozygote lymphoblastoid cells to gamma radiation and PARP inhibitors [PDF]
, 2013 This article is made available through the Brunel Open Access Publishing Fund. Copyright @ 2013 Bourton EC, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use ...
Bourton, EC +5 more
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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
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Distribution of heterozygote and singleton genotypes.
, 2015 Boxplots represent the range of observed heterozygote genotypes (a) and singleton genotypes per individual/per subpopulation (b).
John Waldman (687136) +3 more
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RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
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
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Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos +5 more
wiley +1 more source
Advanced Healthcare Materials, EarlyView.Application of a zwitterionic poly(sulfobetaine methacrylate) (PSB) coating to microelectrode arrays and Ag/AgCl reference electrodes effectively inhibits biofouling and structural degradation. This strategy successfully enables simultaneous, long‐term electrophysiological recording and dopamine sensing in freely behaving mice, facilitating ...
Bingchen Wu +5 more
wiley +1 more source