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Evaluation of the InnoTyper21® system for the applications into trace and degraded DNA in the Korean population
The InnoTyper 21 ® Human Identification kit consists of amelogenin and 20 bi-allelic Alus , retrotransposon markers existing abundantly in human...
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Normalized Mitochondrial DNA Copy Number Can Optimize Pregnancy Outcome Prediction in IVF
The aim of this study is to explore the relationship between mitochondrial DNA (mtDNA) copy number and embryo implantation potential in in vitro...
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Molecular epidemiology of hereditary ataxia in Finland
BackgroundThe genetics of cerebellar ataxia is complex. Hundreds of causative genes have been identified, but only a few cause more than single...
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Mitochondrial genome variations are associated with amyotrophic lateral sclerosis in patients from mainland China
BackgroundAmyotrophic lateral sclerosis (ALS) is a late-onset neurodegenerative disorder. Mitochondrial dysfunction is involved in the complex...
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The psychiatric risk gene BRD1 modulates mitochondrial bioenergetics by transcriptional regulation
Bromodomain containing 1 ( BRD1) encodes an epigenetic regulator that controls the expression of genetic networks linked to mental illness. BRD1 is...
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Mitochondrial gene mutations in pediatric septic shock
BackgroundThere has been a growing interest in the association between mitochondrial dysfunction and sepsis. However, most studies have focused on...
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Plasma mitochondrial DNA levels are associated with acute lung injury and mortality in septic patients
BackgroundMitochondrial DNA (mtDNA) is a critical activator of inflammation. Circulating mtDNA released causes lung injury in experimental models. We...
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Preimplantation genetic diagnosis for a carrier with m.3697G > A mitochondrial DNA mutation
ObjectiveTo explore inheritance of the m.3697G > A mitochondrial DNA (mtDNA) mutation and the effectiveness of preimplantation genetic diagnosis...
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The genetic basis for adult-onset idiopathic dilated cardiomyopathy in people of African descent
Cardiomyopathies are a heterogeneous group of cardiac muscle disorders that result in dilated, hypertrophic, or restrictive pathophysiological...
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Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape
ObjectiveTo determine the prevalence of mitochondrial diseases (MD) in Hong Kong (HK) and to evaluate the clinical characteristics and genetic...
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Mitochondrial DNA variation in sudden cardiac death: a population-based study
Cardiomyopathy and cardiac conduction defects are common manifestations of mitochondrial disease. Previous studies suggest that clinically...
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m.4216 T > C polymorphism in JT cluster determines a lower pregnancy rate in response to controlled ovarian stimulation treatment
PurposeTo analyze the influence of Caucasian mitochondrial haplogroups on controlled ovarian stimulation outcome (COS), embryo (E), and pregnancy...
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Prevalence of Leber hereditary optic neuropathy in the Community of Madrid (Spain), estimation with a capture-recapture method
BackgroundLeber hereditary optic neuropathy (LHON) typically presents in young adults as bilateral painless subacute visual loss. Prevalence data are...
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Mitochondrial heterogeneity in diseases
As key organelles involved in cellular metabolism, mitochondria frequently undergo adaptive changes in morphology, components and functions in...
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Leber hereditary optic neuropathy—new insights and old challenges
Leber hereditary optic neuropathy (LHON) is the most common primary mitochondrial DNA (mtDNA) disorder with the majority of patients harboring one of...
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Mitochondrial DNA deletion mutations increase exponentially with age in human skeletal muscle
BackgroundMitochondrial DNA (mtDNA) deletion mutations lead to electron transport chain-deficient cells and age-induced cell loss in multiple tissues...
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Revisiting informed consent in forensic genomics in light of current technologies and the times
Informed consent is based on basic ethical principles that should be considered when conducting biomedical and behavioral research involving human...
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Genetic biomarkers of cognitive impairment and dementia of potential interest in CKD patients
This review discusses genetic variants associated with cognitive dysfunction in chronic kidney disease (CKD) patients, emphasising the limited...
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New Frontiers in IVF: mtDNA and autologous germline mitochondrial energy transfer
Many infertility specialists support the existence of a relationship between the levels of mitochondrial DNA and the quality of the blastocysts....
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Mitochondrial DNA haplogroups and risk of attention deficit and hyperactivity disorder in European Americans
Although mitochondrial dysfunction has been implicated in the pathophysiology of attention deficit and hyperactivity disorder ADHD, the role of...