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Mitochondrial Genome Variants as a Cause of Mitochondrial Cardiomyopathy.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 18, p. N.PAG, doi. 10.3390/cells11182835
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- Publication type:
- Article
Mitochondrial DNA Variants and Common Diseases: A Mathematical Model for the Diversity of Age-Related mtDNA Mutations.
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- Cells (2073-4409), 2019, v. 8, n. 6, p. 608, doi. 10.3390/cells8060608
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- Publication type:
- Article
Integrated analysis of the molecular pathogenesis of FDXR-associated disease.
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- Cell Death & Disease, 2020, v. 11, n. 6, p. 1, doi. 10.1038/s41419-020-2637-3
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- Publication type:
- Article
Mitochondrial replacement therapy: Genetic counselors' experiences, knowledge, and opinions.
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- Journal of Genetic Counseling, 2021, v. 30, n. 3, p. 828, doi. 10.1002/jgc4.1382
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- Publication type:
- Article
Heteroplasmic mutations of the mitochondrial genome cause paradoxical effects on mitochondrial functions.
- Published in:
- FASEB Journal, 2012, v. 26, n. 12, p. 4914, doi. 10.1096/fj.12-206532
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- Publication type:
- Article
Dissecting the Roles of the Nuclear and Mitochondrial Genomes in a Mouse Model of Autoimmune Diabetes.
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- Diabetes, 2024, v. 73, n. 1, p. 108, doi. 10.2337/db23-0430
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- Publication type:
- Article
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
- Published in:
- Nature Genetics, 2015, v. 47, n. 8, p. 926, doi. 10.1038/ng.3354
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- Publication type:
- Article
The Molecular Mechanisms of OPA1-Mediated Optic Atrophy in Drosophila Model and Prospects for Antioxidant Treatment.
- Published in:
- PLoS Genetics, 2008, v. 4, n. 1, p. e6, doi. 10.1371/journal.pgen.0040006
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- Publication type:
- Article
Next‐Generation Sequencing to Characterize Mitochondrial Genomic DNA Heteroplasmy.
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- Current Protocols, 2022, v. 2, n. 5, p. 1, doi. 10.1002/cpz1.412
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- Publication type:
- Article
Hepatic Ago2-mediated RNA silencing controls energy metabolism linked to AMPK activation and obesity-associated pathophysiology.
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- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-05870-6
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- Publication type:
- Article
Modeling autosomal dominant optic atrophy using induced pluripotent stem cells and identifying potential therapeutic targets.
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- Stem Cell Research & Therapy, 2016, v. 7, p. 1, doi. 10.1186/s13287-015-0264-1
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- Publication type:
- Article
Use of a 3D-printed body surface percutaneous puncture guide plate in vertebroplasty for osteoporotic vertebral compression fractures.
- Published in:
- PLoS ONE, 2022, v. 17, n. 11, p. 1, doi. 10.1371/journal.pone.0276930
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- Publication type:
- Article
Heterozygous Mutation of Drosophila Opa1 Causes the Development of Multiple Organ Abnormalities in an Age-Dependent and Organ-Specific Manner.
- Published in:
- PLoS ONE, 2009, v. 4, n. 8, p. 1, doi. 10.1371/journal.pone.0006867
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- Publication type:
- Article
Heterozygous Mutation of Opa1 in Drosophila Shortens Lifespan Mediated through Increased Reactive Oxygen Species Production.
- Published in:
- PLoS ONE, 2009, v. 4, n. 2, p. 1, doi. 10.1371/journal.pone.0004492
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- Publication type:
- Article
TBX3 Promotes Human Embryonic Stem Cell Proliferation and Neuroepithelial Differentiation in a Differentiation Stage-dependent Manner.
- Published in:
- Stem Cells, 2012, v. 30, n. 10, p. 2152, doi. 10.1002/stem.1187
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- Publication type:
- Article
The Phosphatidylcholine Transfer Protein Stard7 is Required for Mitochondrial and Epithelial Cell Homeostasis.
- Published in:
- Scientific Reports, 2017, p. 46416, doi. 10.1038/srep46416
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- Publication type:
- Article
Light-activated mitochondrial fission through optogenetic control of mitochondria-lysosome contacts.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31970-5
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- Publication type:
- Article
PRICKLE3 linked to ATPase biogenesis manifested Leber's hereditary optic neuropathy.
- Published in:
- 2020
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- Publication type:
- journal article
A Multiplex Asymmetric Reverse Transcription-PCR Assay Combined With an Electrochemical DNA Sensor for Simultaneously Detecting and Subtyping Influenza A Viruses.
- Published in:
- Frontiers in Microbiology, 2018, p. N.PAG, doi. 10.3389/fmicb.2018.01405
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- Publication type:
- Article
A deafness-associated tRNA<sup>Asp</sup> mutation alters the m¹G37 modification, aminoacylation and stability of tRNA<sup>Asp</sup> and mitochondrial function.
- Published in:
- Nucleic Acids Research, 2016, v. 44, n. 22, p. 10974, doi. 10.1093/nar/gkw726
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- Publication type:
- Article
A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential.
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- Nucleic Acids Research, 2014, v. 42, n. 12, p. 8039, doi. 10.1093/nar/gku466
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- Publication type:
- Article
A novel RUNX2 missense mutation predicted to disrupt DNAbinding causes cleidocranial dysplasia in a large Chinese family withhyperplastic nails.
- Published in:
- BMC Medical Genetics, 2007, v. 8, p. 82, doi. 10.1186/1471-2350-8-82
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- Publication type:
- Article
A rapid bioanalytical tool for detection of sequence-specific circular DNA and mitochondrial DNA point mutations.
- Published in:
- Analytical & Bioanalytical Chemistry, 2019, v. 411, n. 10, p. 1935, doi. 10.1007/s00216-019-01683-8
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- Publication type:
- Article
Infantile‐onset Pompe disease with neutropenia: Treatment decisions in the face of a unique phenotype.
- Published in:
- 2023
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- Publication type:
- Case Study
Chemically Induced Specification of Retinal Ganglion Cells From Human Embryonic and Induced Pluripotent Stem Cells.
- Published in:
- Stem Cells Translational Medicine, 2014, v. 3, n. 4, p. 424, doi. 10.5966/sctm.2013-0147
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- Publication type:
- Article
Mitochondria and Their Role in Human Reproduction.
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- DNA & Cell Biology, 2020, v. 39, n. 8, p. 1370, doi. 10.1089/dna.2019.4807
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- Publication type:
- Article
A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.
- Published in:
- Movement Disorders, 2022, v. 37, n. 2, p. 375, doi. 10.1002/mds.28821
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- Publication type:
- Article
Validation of low‐coverage whole‐genome sequencing for mitochondrial DNA variants suggests mitochondrial DNA as a genetic cause of preterm birth.
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- Human Mutation, 2021, v. 42, n. 12, p. 1602, doi. 10.1002/humu.24279
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- Publication type:
- Article
Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy.
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- Human Mutation, 2021, v. 42, n. 2, p. 177, doi. 10.1002/humu.24143
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- Publication type:
- Article
The special considerations of gene therapy for mitochondrial diseases.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0116-5
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- Publication type:
- Article
Prospective: Is Random Monoallelic Expression a Contributor to Phenotypic Variability of Autosomal Dominant Disorders?
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- Frontiers in Genetics, 2017, p. 1, doi. 10.3389/fgene.2017.00191
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- Publication type:
- Article
Systemic administration of AAV-Slc25a46 mitigates mitochondrial neuropathy in Slc25a46<sup>−/−</sup> mice.
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- Human Molecular Genetics, 2020, v. 29, n. 4, p. 649, doi. 10.1093/hmg/ddz277
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- Publication type:
- Article
Contribution of mitochondrial ND1 3394T>C mutation to the phenotypic manifestation of Leber's hereditary optic neuropathy.
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- Human Molecular Genetics, 2019, v. 28, n. 9, p. 1515, doi. 10.1093/hmg/ddy450
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- Publication type:
- Article
Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice.
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- Human Molecular Genetics, 2017, v. 26, n. 19, p. 3776, doi. 10.1093/hmg/ddx262
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- Publication type:
- Article
Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber' s hereditary optic neuropathy-associated mitochondrial DNA mutation.
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- Human Molecular Genetics, 2016, v. 25, n. 16, p. 3613, doi. 10.1093/hmg/ddw199
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- Publication type:
- Article
The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 3, p. 584, doi. 10.1093/hmg/ddv498
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- Publication type:
- Article
Genotyping mitochondrial DNA single nucleotide polymorphisms by PCR ligase detection reactions.
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- Clinical Chemistry & Laboratory Medicine, 2010, v. 48, n. 4, p. 475, doi. 10.1515/CCLM.2010.097
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- Publication type:
- Article
Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 967, doi. 10.1002/ajmg.a.37519
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- Publication type:
- Article
Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2052, doi. 10.1002/ajmg.a.37120
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- Publication type:
- Article
Premature aging is associated with higher levels of 8‐oxoguanine and increased DNA damage in the Polg mutator mouse.
- Published in:
- Aging Cell, 2022, v. 21, n. 9, p. 1, doi. 10.1111/acel.13669
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- Publication type:
- Article
Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy Metabolism.
- Published in:
- PLoS ONE, 2016, v. 11, n. 8, p. 1, doi. 10.1371/journal.pone.0156738
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- Publication type:
- Article
Nanoscopic quantification of sub-mitochondrial morphology, mitophagy and mitochondrial dynamics in living cells derived from patients with mitochondrial diseases.
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- Journal of Nanobiotechnology, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12951-021-00882-9
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- Publication type:
- Article