Results 121 to 130 of about 2,421,986 (315)

RETRACTED: MtDNA polymorphism analyses in the Chinese Mongolian group: Efficiency evaluation and further matrilineal genetic structure exploration

open access: yesMolecular Genetics & Genomic Medicine, 2019
Background Profiling of mitochondrial DNA is surely to provide valuable investigative clues for forensic cases involving highly degraded specimens or complex maternal lineage kinship determination.
Qiong Lan   +6 more
doaj   +1 more source

Hyperoxia activates ATM independent from mitochondrial ROS and dysfunction

open access: yesRedox Biology, 2015
High levels of oxygen (hyperoxia) are often used to treat individuals with respiratory distress, yet prolonged hyperoxia causes mitochondrial dysfunction and excessive reactive oxygen species (ROS) that can damage molecules such as DNA.
Emily A. Resseguie   +3 more
doaj   +1 more source

Mitochondrial DNA and Genetic Disease [PDF]

open access: yesDevelopmental Medicine & Child Neurology, 1988
AbstractSince the human mitochondrial genome was characterised and sequenced in 1981(1), it has been viewed as the likely site of genetic diseases showing a maternal inheritance pattern and associated with defects of the respiratory chain, such as the mitochondrial myopathies (MMs)†(2).
openaire   +4 more sources

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

open access: yesAnnals 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

The role of mitochondrial DNA in tumorigenesis [PDF]

open access: yes
Mitochondria are cytoplasmic organelles that are found in almost all mammalian cells. Mitochondria contain their own genome, mitochondrial DNA (mtDNA) that encodes 13 subunits of the electron transfer chain, which is the primary generator of cellular ...
Dickinson, Adam
core  

The complete mitochondrial genome of Yarrowia lipolytica [PDF]

open access: yes, 2001
We here report the complete nucleotide sequence of the 47.9 kb mitochondrial (mt) genome from the obligate aerobic yeast Yarrowia lipolytica.
Casaregola, Serge   +8 more
core   +1 more source

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova   +9 more
wiley   +1 more source

Mitochondrial DNA in CSF distinguishes LRRK2 from idiopathic Parkinson's disease

open access: yesNeurobiology of Disease, 2016
Mitochondrial DNA regulates mitochondrial function which is altered in both idiopathic and familial forms of Parkinson's disease. To investigate whether these two disease forms exhibit an altered regulation of mitochondrial DNA we measured cell free ...
Petar Podlesniy   +5 more
doaj   +1 more source

Diabetes‐Associated Cognitive Impairment: Pathophysiology and Emerging Therapies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Diabetes‐associated cognitive impairment (DACI) is a common yet underrecognized condition, manifesting along a spectrum from mild cognitive impairment to dementia. DACI encompasses patients who develop vascular dementia (VaD) or Alzheimer's disease (AD) with diabetes as a risk factor; however, in certain patients, particularly those lacking ...
Osman Corbali   +4 more
wiley   +1 more source

Cell-free mitochondrial DNA copy number variation in head and neck squamous cell carcinoma: A study of non-invasive biomarker from Northeast India

open access: yesTumor Biology, 2017
Head and neck squamous cell carcinoma is the most commonly diagnosed cancer worldwide. The lifestyle, food habits, and customary practices manifest the Northeast Indian population toward higher susceptibility to develop head and neck squamous cell ...
Manish Kumar   +7 more
doaj   +1 more source

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