192 results on '"Calvo, Sarah"'
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2. Nuclear genetic control of mtDNA copy number and heteroplasmy in humans
3. ChREBP is activated by reductive stress and mediates GCKR-associated metabolic traits
4. Author Correction: Nuclear genetic control of mtDNA copy number and heteroplasmy in humans
5. Combinatorial GxGxE CRISPR screen identifies SLC25A39 in mitochondrial glutathione transport linking iron homeostasis to OXPHOS
6. Loss of LUC7L2 and U1 snRNP subunits shifts energy metabolism from glycolysis to OXPHOS
7. Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus
8. Genetic Screen for Cell Fitness in High or Low Oxygen Highlights Mitochondrial and Lipid Metabolism
9. Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis
10. BAYESIAN HIDDEN MARKOV TREE MODELS FOR CLUSTERING GENES WITH SHARED EVOLUTIONARY HISTORY
11. Mitochondrial genome copy number variation across tissues in mice and humans.
12. Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma
13. Widespread Chromosomal Losses and Mitochondrial DNA Alterations as Genetic Drivers in Hürthle Cell Carcinoma
14. Spatiotemporal compartmentalization of hepatic NADH and NADPH metabolism
15. Macrocytic Anemia and Mitochondriopathy Resulting from a Defect in Sideroflexin 4
16. Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
17. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome
18. Comparative Analysis of Mitochondrial N-Termini from Mouse, Human, and Yeast
19. GeNets: a unified web platform for network-based genomic analyses
20. A Genome-wide CRISPR Death Screen Identifies Genes Essential for Oxidative Phosphorylation
21. Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities
22. Expansion of Biological Pathways Based on Evolutionary Inference
23. EMRE Is an Essential Component of the Mitochondrial Calcium Uniporter Complex
24. Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome
25. Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
26. Evolutionary Diversity of the Mitochondrial Calcium Uniporter
27. Upstream Open Reading Frames Cause Widespread Reduction of Protein Expression and Are Polymorphic among Humans
28. The Fusarium graminearum Genome Reveals a Link between Localized Polymorphism and Pathogen Specialization
29. Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy
30. A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology
31. Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease
32. CLYBL is a polymorphic human enzyme with malate synthase and β-methylmalate synthase activity
33. Insights from the genome of the biotrophic fungal plant pathogen Ustilago maydis
34. Sequencing of Aspergillus nidulans and comparative analysis with A. fumigatus and A. oryzae
35. The genome sequence of the rice blast fungus Magnaporthe grisea
36. Mitochondrial Encephalomyopathy Due to a Novel Mutation in ACAD9
37. The genome sequence of the filamentous fungus Neurospora crassa
38. MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions
39. Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions
40. FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy
41. Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease
42. A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein‐truncating variant.
43. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome
44. Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation
45. CLIC, a tool for expanding biological pathways based on co-expression across thousands of datasets.
46. MitoCarta2.0: An updated protein inventory of the mammalian mitochondrion
47. MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins.
48. Next generation sequencing with copy-numbervariant detection expands the phenotypic spectrum of HSD17B4-deficiency.
49. Targeted exome sequencing of suspected mitochondrial disorders.
50. Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.
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