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Quoted phrase not found in phrase index: "Combined oxidative phosphorylation deficiency 51"
Page 1
Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations.
Bricout M, Grévent D, Lebre AS, Rio M, Desguerre I, De Lonlay P, Valayannopoulos V, Brunelle F, Rötig A, Munnich A, Boddaert N. Bricout M, et al. J Med Genet. 2014 Jul;51(7):429-35. doi: 10.1136/jmedgenet-2013-102256. Epub 2014 May 1. J Med Genet. 2014. PMID: 24793058 Review.
Mitochondrial diseases are characterised by a broad clinical and genetic heterogeneity that makes diagnosis difficult. ...Brain MRI appears as a useful tool for genotype/phenotype correlations. Here, we summarise the various combinations of MRI lesions obs …
Mitochondrial diseases are characterised by a broad clinical and genetic heterogeneity that makes diagnosis difficult. ...Brai …
Congenital neutropenia: From lab bench to clinic bedside and back.
Dobrewa W, Bielska M, Bąbol-Pokora K, Janczar S, Młynarski W. Dobrewa W, et al. Mutat Res Rev Mutat Res. 2024 Jan-Jun;793:108476. doi: 10.1016/j.mrrev.2023.108476. Epub 2023 Nov 19. Mutat Res Rev Mutat Res. 2024. PMID: 37989463 Free article. Review.
Congenital severe chronic neutropenia (SCN) arises from mutations in various genes, with different inheritance patterns, including autosomal recessive, autosomal dominant, and X-linked forms, often linked to mitochondrial diseases. The most common genetic cause is a …
Congenital severe chronic neutropenia (SCN) arises from mutations in various genes, with different inheritance patterns, including autosomal …
Age-dependent retinal neuroaxonal degeneration in children and adolescents with Leber hereditary optic neuropathy under idebenone therapy.
Schworm B, Siedlecki J, Catarino C, von Livonius B, Muth DR, Rudolph G, Havla J, Klopstock T, Priglinger C. Schworm B, et al. Eur J Neurol. 2023 Aug;30(8):2525-2533. doi: 10.1111/ene.15847. Epub 2023 May 23. Eur J Neurol. 2023. PMID: 37158303

Mean best-corrected visual acuity was 0.65 0.52 logMAR in the ChO group and 1.60 0. 51 logMAR in the eTO group (p < 0.001). Reduced pRNFL was evident in the eTO group compared to the ChO group (46.0 12.7 mum vs. 56.0 14.5 mum, p = 0.015). Additionally, a significantly l

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Mean best-corrected visual acuity was 0.65 0.52 logMAR in the ChO group and 1.60 0. 51 logMAR in the eTO group (p < 0.001). Reduce

…
Comprehensive molecular and clinicopathological profiling of desmoid tumours.
Kohsaka S, Hirata M, Ikegami M, Ueno T, Kojima S, Sakai T, Ito K, Naka N, Ogura K, Kawai A, Iwata S, Okuma T, Yonemoto T, Kobayashi H, Suehara Y, Hiraga H, Kawamoto T, Motoi T, Oda Y, Matsubara D, Matsuda K, Nishida Y, Mano H. Kohsaka S, et al. Eur J Cancer. 2021 Mar;145:109-120. doi: 10.1016/j.ejca.2020.12.001. Epub 2021 Jan 11. Eur J Cancer. 2021. PMID: 33444924 Free article.
Whole-exome sequencing (WES) and/or RNA sequencing (RNA-seq) were performed in 64 cases of DT to investigate the molecular profiles in combination with the clinicopathological characteristics. CTNNB1 mutations with specific hotspots were identified in 56 cases (87.5%). A c …
Whole-exome sequencing (WES) and/or RNA sequencing (RNA-seq) were performed in 64 cases of DT to investigate the molecular profiles in co …
Determination of the Mechanisms that Cause Sarcopenia through cDNA Microarray.
Jeong HO, Park D, Im E, Lee J, Im DS, Chung HY. Jeong HO, et al. J Frailty Aging. 2017;6(2):97-102. doi: 10.14283/jfa.2017.13. J Frailty Aging. 2017. PMID: 28555711
OBJECTIVE: To identify potential therapeutic targets for this disease. METHODS: we used a bioinformatics approach of combining cDNA microarray analysis and protein-protein interaction prediction. ...CONCLUSIONS: These results suggest that mitochondrial dysfun …
OBJECTIVE: To identify potential therapeutic targets for this disease. METHODS: we used a bioinformatics approach of combining cDNA m …
Nucleoside reverse transcriptase inhibitors induced hepatocellular mitochondrial DNA lesions and compensatory enhancement of mitochondrial function and DNA repair.
Liang Q, Zeng J, Wu J, Qiao L, Chen Q, Chen D, Zhang Y. Liang Q, et al. Int J Antimicrob Agents. 2018 Mar;51(3):385-392. doi: 10.1016/j.ijantimicag.2017.08.017. Epub 2017 Aug 24. Int J Antimicrob Agents. 2018. PMID: 28843815
Laser capture microdissection was used to capture hepatocytes from liver tissues. We observed DNA oxidative damage and mitochondrial DNA (mtDNA) loss in the livers of AIDS patients, and cART patients had higher DNA oxidative damage and lower DNA repair …
Laser capture microdissection was used to capture hepatocytes from liver tissues. We observed DNA oxidative damage and mito …
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y, Tsuji J, Fu SC, Tomii K, Horton P, Imai K. Fukasawa Y, et al. Mol Cell Proteomics. 2015 Apr;14(4):1113-26. doi: 10.1074/mcp.M114.043083. Epub 2015 Feb 10. Mol Cell Proteomics. 2015. PMID: 25670805 Free PMC article.
To fill this gap, methods to computationally predict mitochondrial proteins from amino acid sequence have been developed and are widely used, but unfortunately, their accuracy is far from perfect. Here we describe MitoFates, an improved prediction method for …
To fill this gap, methods to computationally predict mitochondrial proteins from amino acid sequence have been developed and a …
Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy.
Rönnbäck C, Nissen C, Almind GJ, Grønskov K, Milea D, Larsen M. Rönnbäck C, et al. Acta Ophthalmol. 2015 Dec;93(8):762-6. doi: 10.1111/aos.12835. Epub 2015 Sep 19. Acta Ophthalmol. 2015. PMID: 26385429 Free article.
PURPOSE: To describe the thickness of the combined ganglion cell and inner plexiform layers (GC-IPL) and the peripapillary retinal nerve fibre layer (RNFL) in patients with OPA1 c.983A>G or c.2708_2711delTTAG autosomal-dominant optic atrophy (ADOA). ...Thus, a pronounce …
PURPOSE: To describe the thickness of the combined ganglion cell and inner plexiform layers (GC-IPL) and the peripapillary retinal ne …
Natural-product-inspired design and synthesis of two series of compounds active against Trypanosoma cruzi: Insights into structure-activity relationship, toxicity, and mechanism of action.
da Rosa R, Dambrós BP, Höehr de Moraes M, Grand L, Jacolot M, Popowycz F, Steindel M, Schenkel EP, Campos Bernardes LS. da Rosa R, et al. Bioorg Chem. 2022 Feb;119:105492. doi: 10.1016/j.bioorg.2021.105492. Epub 2021 Nov 15. Bioorg Chem. 2022. PMID: 34838333
Active compounds were assessed for selectivity, hemocompatibility, synergistic potential, effects on mitochondrial membrane potential, and inhibitory effect on trypanothione reductase. ...Although increased reactive oxygen species levels might lead to mitochondrial …
Active compounds were assessed for selectivity, hemocompatibility, synergistic potential, effects on mitochondrial membrane potential …
Polyphosphate and tyrosine phosphorylation in the N-terminal domain of the human mitochondrial Lon protease disrupts its functions.
Kunová N, Ondrovičová G, Bauer JA, Krajčovičová V, Pinkas M, Stojkovičová B, Havalová H, Lukáčová V, Kohútová L, Košťan J, Martináková L, Baráth P, Nováček J, Zoll S, Kereϊche S, Kutejová E, Pevala V. Kunová N, et al. Sci Rep. 2024 Apr 30;14(1):9923. doi: 10.1038/s41598-024-60030-9. Sci Rep. 2024. PMID: 38688959 Free PMC article.
Phosphorylation plays a crucial role in the regulation of many fundamental cellular processes. Phosphorylation levels are increased in many cancer cells where they may promote changes in mitochondrial homeostasis. ...
Phosphorylation plays a crucial role in the regulation of many fundamental cellular processes. Phosphorylation levels are incr …
19 results