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[Mitochondrial inherited diseases].

Nihon rinsho. Japanese journal of clinical medicine

Goto Y.
PMID: 20979265
Nihon Rinsho. 2010 Aug;68:27-32.

No abstract available.

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Goto Y. [Mitochondrial inherited diseases]. Nihon Rinsho. 2010;68:27-32
Goto, Y. (2010). [Mitochondrial inherited diseases]. Nihon rinsho. Japanese journal of clinical medicine, 6827-32.
Goto, Yu-ichi. "[Mitochondrial inherited diseases]." Nihon rinsho. Japanese journal of clinical medicine vol. 68 (2010): 27-32.
Goto Y. [Mitochondrial inherited diseases]. Nihon Rinsho. 2010 Aug;68:27-32. Japanese. PMID: 20979265.
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Mitochondrial diseases: a nosological update.

Acta neurologica Scandinavica

Filosto M, Mancuso M.
PMID: 17376118
Acta Neurol Scand. 2007 Apr;115(4):211-21. doi: 10.1111/j.1600-0404.2006.00777.x.

Mitochondrial diseases are disorders caused by impairment of the mitochondrial respiratory chain, characterized by clinical-genetic heterogeneity and frequent multisystemic involvement. It is difficult to establish a precise genotype/phenotype correlation and obtain a definitive nosology. Today's genetic classification distinguishes disorders...

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Filosto M, Mancuso M. Mitochondrial diseases: a nosological update. Acta Neurol Scand. 2007;115(4):211-21doi: 10.1111/j.1600-0404.2006.00777.x.
Filosto, M., & Mancuso, M. (2007). Mitochondrial diseases: a nosological update. Acta neurologica Scandinavica, 115(4), 211-21. https://doi.org/10.1111/j.1600-0404.2006.00777.x
Filosto, M, and Mancuso, M. "Mitochondrial diseases: a nosological update." Acta neurologica Scandinavica vol. 115,4 (2007): 211-21. doi: https://doi.org/10.1111/j.1600-0404.2006.00777.x
Filosto M, Mancuso M. Mitochondrial diseases: a nosological update. Acta Neurol Scand. 2007 Apr;115(4):211-21. doi: 10.1111/j.1600-0404.2006.00777.x. PMID: 17376118.
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Mitochondrial DNA mutations in human cancer.

Oncogene

Chatterjee A, Mambo E, Sidransky D.
PMID: 16892080
Oncogene. 2006 Aug 07;25(34):4663-74. doi: 10.1038/sj.onc.1209604.

Somatic mitochondrial DNA (mtDNA) mutations have been increasingly observed in primary human cancers. As each cell contains many mitochondria with multiple copies of mtDNA, it is possible that wild-type and mutant mtDNA can co-exist in a state called heteroplasmy....

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Chatterjee A, Mambo E, Sidransky D. Mitochondrial DNA mutations in human cancer. Oncogene. 2006;25(34):4663-74doi: 10.1038/sj.onc.1209604.
Chatterjee, A., Mambo, E., & Sidransky, D. (2006). Mitochondrial DNA mutations in human cancer. Oncogene, 25(34), 4663-74. https://doi.org/10.1038/sj.onc.1209604
Chatterjee, A, et al. "Mitochondrial DNA mutations in human cancer." Oncogene vol. 25,34 (2006): 4663-74. doi: https://doi.org/10.1038/sj.onc.1209604
Chatterjee A, Mambo E, Sidransky D. Mitochondrial DNA mutations in human cancer. Oncogene. 2006 Aug 07;25(34):4663-74. doi: 10.1038/sj.onc.1209604. PMID: 16892080.
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MitoScape: A big-data, machine-learning platform for obtaining mitochondrial DNA from next-generation sequencing data.

PLoS computational biology

Singh LN, Ennis B, Loneragan B, Tsao NL, Lopez Sanchez MIG, Li J, Acheampong P, Tran O, Trounce IA, Zhu Y, Potluri P, Emanuel BS, Rader DJ, Arany Z, Damrauer SM, Resnick AC, Anderson SA, Wallace DC.
PMID: 34762648
PLoS Comput Biol. 2021 Nov 11;17(11):e1009594. doi: 10.1371/journal.pcbi.1009594. eCollection 2021 Nov.

The growing number of next-generation sequencing (NGS) data presents a unique opportunity to study the combined impact of mitochondrial and nuclear-encoded genetic variation in complex disease. Mitochondrial DNA variants and in particular, heteroplasmic variants, are critical for determining human...

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Singh LN, Ennis B, Loneragan B, et al. MitoScape: A big-data, machine-learning platform for obtaining mitochondrial DNA from next-generation sequencing data. PLoS Comput Biol. 2021;17(11):e1009594doi: 10.1371/journal.pcbi.1009594.
Singh, L. N., Ennis, B., Loneragan, B., Tsao, N. L., Lopez Sanchez, M. I. G., Li, J., Acheampong, P., Tran, O., Trounce, I. A., Zhu, Y., Potluri, P., Emanuel, B. S., Rader, D. J., Arany, Z., Damrauer, S. M., Resnick, A. C., Anderson, S. A., & Wallace, D. C. (2021). MitoScape: A big-data, machine-learning platform for obtaining mitochondrial DNA from next-generation sequencing data. PLoS computational biology, 17(11), e1009594. https://doi.org/10.1371/journal.pcbi.1009594
Singh, Larry N, et al. "MitoScape: A big-data, machine-learning platform for obtaining mitochondrial DNA from next-generation sequencing data." PLoS computational biology vol. 17,11 (2021): e1009594. doi: https://doi.org/10.1371/journal.pcbi.1009594
Singh LN, Ennis B, Loneragan B, Tsao NL, Lopez Sanchez MIG, Li J, Acheampong P, Tran O, Trounce IA, Zhu Y, Potluri P, Emanuel BS, Rader DJ, Arany Z, Damrauer SM, Resnick AC, Anderson SA, Wallace DC. MitoScape: A big-data, machine-learning platform for obtaining mitochondrial DNA from next-generation sequencing data. PLoS Comput Biol. 2021 Nov 11;17(11):e1009594. doi: 10.1371/journal.pcbi.1009594. eCollection 2021 Nov. PMID: 34762648; PMCID: PMC8610268.
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Association Between Mitochondrial DNA Copy Number and Head and Neck Squamous Cell Carcinoma: A Systematic Review and Dose-Response Meta-Analysis.

Medical science monitor : international medical journal of experimental and clinical research

Zhu Z, Liu Y, Wu D, Wang H.
PMID: 33468984
Med Sci Monit. 2021 Jan 20;27:e928327. doi: 10.12659/MSM.928327.

BACKGROUND The association between mitochondrial DNA (mtDNA) copy number and head and neck squamous cell carcinoma (HNSCC) risk remains unclear. Therefore, we aimed to evaluate the relationship between mtDNA copy number and HNSCC risk. MATERIAL AND METHODS We searched...

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Zhu Z, Liu Y, Wu D, et al. Association Between Mitochondrial DNA Copy Number and Head and Neck Squamous Cell Carcinoma: A Systematic Review and Dose-Response Meta-Analysis. Med Sci Monit. 2021;27:e928327doi: 10.12659/MSM.928327.
Zhu, Z., Liu, Y., Wu, D., & Wang, H. (2021). Association Between Mitochondrial DNA Copy Number and Head and Neck Squamous Cell Carcinoma: A Systematic Review and Dose-Response Meta-Analysis. Medical science monitor : international medical journal of experimental and clinical research, 27e928327. https://doi.org/10.12659/MSM.928327
Zhu, Zhu, et al. "Association Between Mitochondrial DNA Copy Number and Head and Neck Squamous Cell Carcinoma: A Systematic Review and Dose-Response Meta-Analysis." Medical science monitor : international medical journal of experimental and clinical research vol. 27 (2021): e928327. doi: https://doi.org/10.12659/MSM.928327
Zhu Z, Liu Y, Wu D, Wang H. Association Between Mitochondrial DNA Copy Number and Head and Neck Squamous Cell Carcinoma: A Systematic Review and Dose-Response Meta-Analysis. Med Sci Monit. 2021 Jan 20;27:e928327. doi: 10.12659/MSM.928327. PMID: 33468984; PMCID: PMC7830846.
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Genetic basis of mitochondrial diseases.

FEBS letters

Gusic M, Prokisch H.
PMID: 33655490
FEBS Lett. 2021 Apr;595(8):1132-1158. doi: 10.1002/1873-3468.14068. Epub 2021 Mar 21.

Mitochondrial disorders are monogenic disorders characterized by a defect in oxidative phosphorylation and caused by pathogenic variants in one of over 340 different genes. The implementation of whole-exome sequencing has led to a revolution in their diagnosis, duplicated the...

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Gusic M, Prokisch H. Genetic basis of mitochondrial diseases. FEBS Lett. 2021;595(8):1132-1158doi: 10.1002/1873-3468.14068.
Gusic, M., & Prokisch, H. (2021). Genetic basis of mitochondrial diseases. FEBS letters, 595(8), 1132-1158. https://doi.org/10.1002/1873-3468.14068
Gusic, Mirjana, and Prokisch, Holger. "Genetic basis of mitochondrial diseases." FEBS letters vol. 595,8 (2021): 1132-1158. doi: https://doi.org/10.1002/1873-3468.14068
Gusic M, Prokisch H. Genetic basis of mitochondrial diseases. FEBS Lett. 2021 Apr;595(8):1132-1158. doi: 10.1002/1873-3468.14068. Epub 2021 Mar 21. PMID: 33655490.
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Showing 1 to 6 of 6 entries