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2020 1
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2023 6
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Mechanisms underlying genetic susceptibility to multisystem inflammatory syndrome in children (MIS-C).
Chou J, Platt CD, Habiballah S, Nguyen AA, Elkins M, Weeks S, Peters Z, Day-Lewis M, Novak T, Armant M, Williams L, Rockowitz S, Sliz P, Williams DA, Randolph AG, Geha RS; Taking on COVID-19 Together Study Investigators. Chou J, et al. J Allergy Clin Immunol. 2021 Sep;148(3):732-738.e1. doi: 10.1016/j.jaci.2021.06.024. Epub 2021 Jul 2. J Allergy Clin Immunol. 2021. PMID: 34224783 Free PMC article.
In 2 boys with no significant infection history, we identified and validated hemizygous deleterious defects in XIAP, encoding X-linked inhibitor of apoptosis, and CYBB, encoding cytochrome b-245, beta subunit. Including the previously reported SOCS1 haploinsufficien …
In 2 boys with no significant infection history, we identified and validated hemizygous deleterious defects in XIAP, encoding X-linked inhib …
Analysis of mitochondrial DNA cytochrome-b (CYB) and ATPase-6 gene mutations in COVID-19 patients.
Dirican E, Savrun ŞT, Aydın İE, Gülbay G, Karaman Ü. Dirican E, et al. J Med Virol. 2022 Jul;94(7):3138-3146. doi: 10.1002/jmv.27704. Epub 2022 Mar 22. J Med Virol. 2022. PMID: 35258110 Free PMC article.
Mutations of mitochondrial DNA (mtDNA) are becoming increasingly common in various diseases. This study aims to investigate mutations in the cytochrome-b (CYB) and adenosine triphosphatase-6 (ATPase-6) genes of mtDNA in COVID-19 patients. The association betw …
Mutations of mitochondrial DNA (mtDNA) are becoming increasingly common in various diseases. This study aims to investigate mutations in the …
Association between the single nucleotide variants of the mitochondrial cytochrome B gene (MT-CYB) and the male infertility.
Saleh Jaweesh M, Hammadeh ME, Dahadhah FW, Al Zoubi MS, Amor H. Saleh Jaweesh M, et al. Mol Biol Rep. 2022 May;49(5):3609-3616. doi: 10.1007/s11033-022-07200-y. Epub 2022 Feb 3. Mol Biol Rep. 2022. PMID: 35118571 Free PMC article.
Genetic alterations in the mitochondrial DNA (mtDNA) have been linked to certain types of male infertility and abnormal sperm function. Mutations in the mitochondrial cytochrome B (MT-CYB) gene might lead to some deficiencies in mitochondrial function. …
Genetic alterations in the mitochondrial DNA (mtDNA) have been linked to certain types of male infertility and abnormal sperm function. Muta …
Evaluation of cytochrome b sequence to identify Leishmania species and variants: the case of Panama.
Davila M, Pineda V, Calzada JE, Saldaña A, Samudio F. Davila M, et al. Mem Inst Oswaldo Cruz. 2021 Apr 19;116:e200572. doi: 10.1590/0074-02760200572. eCollection 2021. Mem Inst Oswaldo Cruz. 2021. PMID: 33886871 Free PMC article.
Consequently, understanding the genetic make-up of Leishmania species using suitable molecular markers is an important component of realising local and regional scale disease risk. The cytochrome b (cytb) is frequently used to type New World Leishmania species. ...
Consequently, understanding the genetic make-up of Leishmania species using suitable molecular markers is an important component of realisin …
Mitochondrial DNA variant spectrum and the association with chronic tic disorders.
Jiang P, Zhu T, Liu J, Tao X, Xue Z, Tao Y, Chen H, Zeng X, Zhu W, Shu Q, Yu L. Jiang P, et al. Eur J Neurol. 2022 Nov;29(11):3187-3196. doi: 10.1111/ene.15484. Epub 2022 Jul 20. Eur J Neurol. 2022. PMID: 35781907
We found a higher number of overall mtDNA variants in TD patients (p = 0.00028). The variant density in MT-ATP6/8 and MT-CYB coding regions showed a significant difference between TD patients and controls (p = 0.0025 and p = 0.003, respectively). Furthermore, …
We found a higher number of overall mtDNA variants in TD patients (p = 0.00028). The variant density in MT-ATP6/8 and MT-CY
The Mitochondrial Epigenome: An Unexplored Avenue to Explain Unexplained Myopathies?
Mposhi A, Liang L, Mennega KP, Yildiz D, Kampert C, Hof IH, Jellema PG, de Koning TJ, Faber KN, Ruiters MHJ, Niezen-Koning KE, Rots MG. Mposhi A, et al. Int J Mol Sci. 2022 Feb 16;23(4):2197. doi: 10.3390/ijms23042197. Int J Mol Sci. 2022. PMID: 35216315 Free PMC article.
Enhanced mtDNA methylation was indicated by pyrosequencing for muscle biopsies of 14 myopathy patients compared to four healthy controls, at selected cytosines in the Cytochrome B (CYTB) gene, but not within the displacement loop (D-loop) region. ...
Enhanced mtDNA methylation was indicated by pyrosequencing for muscle biopsies of 14 myopathy patients compared to four healthy controls, at …
Cytochrome b Drug Resistance Mutation Decreases Babesia Fitness in the Tick Stages But Not the Mammalian Erythrocytic Cycle.
Chiu JE, Renard I, George S, Pal AC, Alday PH, Narasimhan S, Riscoe MK, Doggett JS, Ben Mamoun C. Chiu JE, et al. J Infect Dis. 2022 Jan 5;225(1):135-145. doi: 10.1093/infdis/jiab321. J Infect Dis. 2022. PMID: 34139755 Free PMC article.
Here, we show that a mutation in the Babesia microti mitochondrial cytochrome b (Cytb) that confers resistance to the antibabesial drug ELQ-502 decreases parasite fitness in the arthropod vector. ...Furthermore, we show that B. microti parasites with this mut …
Here, we show that a mutation in the Babesia microti mitochondrial cytochrome b (Cytb) that confers resistance to the antibabe …
Phylogenetic relationship between the endosymbiont "Candidatus Riesia pediculicola" and its human louse host.
Hammoud A, Louni M, Missé D, Cortaredona S, Fenollar F, Mediannikov O. Hammoud A, et al. Parasit Vectors. 2022 Mar 5;15(1):73. doi: 10.1186/s13071-022-05203-z. Parasit Vectors. 2022. PMID: 35248159 Free PMC article.
This louse has been classified into six divergent mitochondrial clades (A, D, B, F, C and E). As with all haematophagous lice, P. humanus directly depends on the presence of a bacterial symbiont, known as "Candidatus Riesia pediculicola", to complement their unbalanced die …
This louse has been classified into six divergent mitochondrial clades (A, D, B, F, C and E). As with all haematophagous lice, P. hum …
Next-generation sequencing of the whole mitochondrial genome identifies functionally deleterious mutations in patients with multiple sclerosis.
Al-Kafaji G, Bakheit HF, AlAli F, Fattah M, Alhajeri S, Alharbi MA, Daif A, Alsabbagh MM, Alwehaidah MS, Bakhiet M. Al-Kafaji G, et al. PLoS One. 2022 Feb 7;17(2):e0263606. doi: 10.1371/journal.pone.0263606. eCollection 2022. PLoS One. 2022. PMID: 35130313 Free PMC article.
Seven of these mutations were not previously reported in MS, and predicted to be deleterious with considerable impacts on the functions and structures of encoded-proteins and may play a role in the pathogenesis of MS. These include two heteroplasmic mutations namely 10237T>C i …
Seven of these mutations were not previously reported in MS, and predicted to be deleterious with considerable impacts on the functions and …
HIV-1 Tat and cocaine impact mitochondrial epigenetics: effects on DNA methylation.
Doke M, Jeganathan V, McLaughlin JP, Samikkannu T. Doke M, et al. Epigenetics. 2021 Sep;16(9):980-999. doi: 10.1080/15592294.2020.1834919. Epub 2020 Oct 24. Epigenetics. 2021. PMID: 33100130 Free PMC article.
These changes resulted in alterations in mtDNA methylation levels at CpG and non-CpG sites in human primary astrocytes as measured using targeted next-generation bisulphite sequencing (TNGBS). Moreover, mitochondrial methylation levels in the MT-RNR1, MT-ND5, MT
These changes resulted in alterations in mtDNA methylation levels at CpG and non-CpG sites in human primary astrocytes as measured using tar …
39 results