228 results on '"Attimonelli, Marcella"'
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2. Bioinformatics resources, databases, and tools for human mtDNA
3. Human nuclear mitochondrial sequences (NumtS)
4. List of Contributors
5. Immunohistochemical, pharmacovigilance, and omics analyses reveal the involvement of ATP-sensitive K+ channel subunits in cancers: role in drug–disease interactions
6. Supplementary file captions from Decreased Mitochondrial DNA Content Drives OXPHOS Dysregulation in Chromophobe Renal Cell Carcinoma
7. Figure S3 from Decreased Mitochondrial DNA Content Drives OXPHOS Dysregulation in Chromophobe Renal Cell Carcinoma
8. Data from Decreased Mitochondrial DNA Content Drives OXPHOS Dysregulation in Chromophobe Renal Cell Carcinoma
9. Table S2 from Decreased Mitochondrial DNA Content Drives OXPHOS Dysregulation in Chromophobe Renal Cell Carcinoma
10. The RD-connect genome-phenome analysis platform: accelerating diagnosis, research, and gene discovery for rare diseases
11. Immunohistochemical, pharmacovigilance, and omics analyses reveal the involvement of ATP-sensitive K+ channel subunits in cancers: role in drug-disease interactions.
12. A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest
13. The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases
14. MmtDB: The Metazoa Mitochondrial DNA Variants Specialized Database
15. MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease
16. MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing
17. Polymorphic NumtS trace human population relationships
18. Phylogeography and conservation perspectives of an endangered macaronesian endemic: Picconia azorica (Tutin) Knobl. (Oleaceae)
19. Late-onset Leber hereditary optic neuropathy mimicking Susac’s syndrome
20. Primates and mouse NumtS in the UCSC Genome Browser
21. Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation
22. Annotation and curation of human genomic variations: an ELIXIR Implementation Study
23. Somatic complex I disruptive mitochondrial DNA mutations are modifiers of tumorigenesis that correlate with low genomic instability in pituitary adenomas
24. Deep sequencing unearths Nuclear mitochondrial Sequences under Leberʼs hereditary optic neuropathy-associated false heteroplasmic mitochondrial DNA variants
25. HmtDB, a genomic resource for mitochondrion-based human variability studies
26. Biomedical Literature Mining for Biological Databases Annotation
27. Placing mitochondrial DNA mutations within the progression model of type I endometrial carcinoma
28. Mitochondrial DNA Mutations in Oncocytic Adnexal Lacrimal Glands of the Conjunctiva
29. Decreased Mitochondrial DNA Content Drives OXPHOS Dysregulation in Chromophobe Renal Cell Carcinoma
30. Investigating Human Mitochondrial Genomes in Single Cells
31. HmtDB, a Human Mitochondrial Genomic Resource Based on Variability Studies Supporting Population Genetics and Biomedical Research
32. A data and text mining pipeline to annotate human mitochondrial variants with functional and clinical information
33. The genetic and metabolic signature of oncocytic transformation implicates HIF1α destabilization
34. Human mtDNA Site-Specific Variability Values Can Act as Haplogroup Markers
35. MitoDrome: a database of Drosophila melanogaster nuclear genes encoding proteins targeted to the mitochondrion
36. Update of AMmtDB: a database of multi-aligned Metazoa mitochondrial DNA sequences
37. MitoNuc: a database of nuclear genes coding for mitochondrial proteins. Update 2002
38. Compositional bias and mimicry toward the nonself proteome in immunodominant T cell epitopes of self and nonself antigens
39. Papillary renal cell carcinomas rewire glutathione metabolism and are deficient in anabolic glucose synthesis
40. Metabolic reprogramming and elevation of glutathione in chromophobe renal cell carcinomas
41. The reference human nuclear mitochondrial sequences compilation validated and implemented on the UCSC genome browser
42. HmtVar: a new resource for human mitochondrial variations and pathogenicity data
43. The RHNumtS compilation: Features and bioinformatics approaches to locate and quantify Human NumtS
44. The Role of cheA Genes in Swarming and Swimming Motility of Pseudomonas pseudoalcaligenes KF707
45. MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion
46. Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione
47. The Evolution of Mitochondrially Coded Cytochrome Genes: A Quantitative Estimate
48. Genetic perspective of uniparental mitochondrial DNA landscape on the Punjabi population, Pakistan
49. Problems in Mitochondrial DNA forensics: while interpreting length heteroplasmy conundrum of various Sindhi and Baluchi ethnic groups of Pakistan
50. HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor
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