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Page 1
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital.
Stenton SL, Zou Y, Cheng H, Liu Z, Wang J, Shen D, Jin H, Ding C, Tang X, Sun S, Han H, Ma Y, Zhang W, Jin R, Wang H, Sun D, Lv JL, Prokisch H, Fang F. Stenton SL, et al. Ann Neurol. 2022 Apr;91(4):466-482. doi: 10.1002/ana.26313. Epub 2022 Mar 6. Ann Neurol. 2022. PMID: 35094435
RESULTS: Pathogenic variants were identified in 52 genes, most frequently MT-ATP6, SURF1, and PDHA1. Maternally inherited variants accounted for 42% (heteroplasmy level 90% in 64%). ...Discriminating neuroimaging and/or clinical features were identified for MT-ATP6 (m.9176 …
RESULTS: Pathogenic variants were identified in 52 genes, most frequently MT-ATP6, SURF1, and PDHA1. Maternally inherited variants ac …
Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.
Hassan A. Hassan A. Tremor Other Hyperkinet Mov (N Y). 2023 Mar 28;13:9. doi: 10.5334/tohm.747. eCollection 2023. Tremor Other Hyperkinet Mov (N Y). 2023. PMID: 37008993 Free PMC article. Review.
EA may also be caused by gene mutations associated with chronic ataxias (SCA-14, SCA-27, SCA-42, AOA2, CAPOS), epilepsy syndromes (KCNA2, SCN2A, PRRT2), GLUT-1, mitochondrial disorders (PDHA1, PDHX, ACO2), metabolic disorders (Maple syrup urine disease, Hartnup disease, ty …
EA may also be caused by gene mutations associated with chronic ataxias (SCA-14, SCA-27, SCA-42, AOA2, CAPOS), epilepsy syndromes (KCNA2, SC …
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K, Xiao J, Ling Z, Luo T, Xiong J, Chen Q, Dong L, Wang Y, Wang X, Jiang Z, Xia L, Yu Z, Hua R, Guo R, Tang D, Lv M, Lian A, Li B, Zhao G, He X, Xia K, Cao Y, Li J. Li K, et al. EBioMedicine. 2024 Jan;99:104928. doi: 10.1016/j.ebiom.2023.104928. Epub 2023 Dec 18. EBioMedicine. 2024. PMID: 38113761 Free PMC article.
Minigene successfully validated 59 of 79 (74.68%) NCSVs that led to abnormal splicing in 40 candidate genes, and 9 of the genes (ARID1B, KAT6B, TCF4, SMARCA2, SHANK3, PDHA1, WDR45, SCN2A, SYNGAP1) harboured recurrent NCSVs with the same variant present in more than two unr …
Minigene successfully validated 59 of 79 (74.68%) NCSVs that led to abnormal splicing in 40 candidate genes, and 9 of the genes (ARID1B, KAT …
Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.
Kistol D, Tsygankova P, Krylova T, Bychkov I, Itkis Y, Nikolaeva E, Mikhailova S, Sumina M, Pechatnikova N, Kurbatov S, Bostanova F, Migiaev O, Zakharova E. Kistol D, et al. Int J Mol Sci. 2023 Jan 13;24(2):1597. doi: 10.3390/ijms24021597. Int J Mol Sci. 2023. PMID: 36675121 Free PMC article.
Five main LS genes, SURF1, SCO2, MT-ATP6, MT-ND5 and PDHA1, account for 70% of all LS cases in the Russian Federation. Using next generation sequencing (NGS) technique, we were able to detect pathogenic variants in other nuclear genes: NDUFV1, NDUFS2, NDUFS8, NDUFAF5, NDUF …
Five main LS genes, SURF1, SCO2, MT-ATP6, MT-ND5 and PDHA1, account for 70% of all LS cases in the Russian Federation. Using next gen …
Interleukin-6 classic and trans-signaling utilize glucose metabolism reprogramming to achieve anti- or pro-inflammatory effects.
Xu S, Deng KQ, Lu C, Fu X, Zhu Q, Wan S, Zhang L, Huang Y, Nie L, Cai H, Wang Q, Zeng H, Zhang Y, Wang F, Ren H, Chen Y, Yan H, Xu K, Zhou L, Lu M, Zhu Y, Liu S, Lu Z. Xu S, et al. Metabolism. 2024 Jun;155:155832. doi: 10.1016/j.metabol.2024.155832. Epub 2024 Mar 2. Metabolism. 2024. PMID: 38438106
Classic IL-6 signaling promotes STAT3 translocation into mitochondria to interact with pyruvate dehydrogenase kinase-1 (PDK1), leading to pyruvate dehydrogenase alpha (PDHA) dissociation from PDK1. As a result, PDHA is dephosphorylated, and STAT3 is phosphorylated a …
Classic IL-6 signaling promotes STAT3 translocation into mitochondria to interact with pyruvate dehydrogenase kinase-1 (PDK1), leading to py …
A Novel Cuproptosis-Related Prognostic Gene Signature and Validation of Differential Expression in Clear Cell Renal Cell Carcinoma.
Bian Z, Fan R, Xie L. Bian Z, et al. Genes (Basel). 2022 May 10;13(5):851. doi: 10.3390/genes13050851. Genes (Basel). 2022. PMID: 35627236 Free PMC article.
Our results revealed that CDKN2A, DLAT, DLD, FDX1, GLS, PDHA1 and PDHB exhibited differential expression between ccRCC and normal tissues (|log2(fold change)| > 2/3 and p < 0.05). ...
Our results revealed that CDKN2A, DLAT, DLD, FDX1, GLS, PDHA1 and PDHB exhibited differential expression between ccRCC and normal tis …
Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies.
Ferreira T, Polavarapu K, Olimpio C, Paramonov I, Lochmüller H, Horvath R. Ferreira T, et al. J Neurol. 2024 Jun;271(6):3546-3553. doi: 10.1007/s00415-024-12319-y. Epub 2024 Mar 28. J Neurol. 2024. PMID: 38549004 Free PMC article.
We also detected heterozygous likely pathogenic variants in DNA2, MFN2, DNM2, PDHA1, SDHA, and UCHL1. Biallelic variants in SACS, SPG7, GDAP1, C12orf65, UCHL1, NDUFS6, ETFDH and DARS2 and variants in the mitochondrial DNA (mtDNA)-encoded MT-ATP6 and MT-TK were also causati …
We also detected heterozygous likely pathogenic variants in DNA2, MFN2, DNM2, PDHA1, SDHA, and UCHL1. Biallelic variants in SACS, SPG …
Crosstalk of cuproptosis-related prognostic signature and competing endogenous RNAs regulation in hepatocellular carcinoma.
Zhu J, Wang J, Liu H, Lei T, Yang J, Lan S, Jian H, Fang H, Zhang Y, Ren K, Zhong F. Zhu J, et al. Aging (Albany NY). 2023 Dec 10;15(23):13901-13919. doi: 10.18632/aging.205273. Epub 2023 Dec 10. Aging (Albany NY). 2023. PMID: 38078880 Free PMC article.
We also developed five ceRNA networks to regulate the occurrence and progression of HCC. CDKN2A, DLAT, and PDHA1 protein expression was up-regulated in HCC versus normal tissues. Besides, the mRNA expression levels of CDKN2A, DLAT, GLS, and PDHA1 were elevated in th …
We also developed five ceRNA networks to regulate the occurrence and progression of HCC. CDKN2A, DLAT, and PDHA1 protein expression w …
Machine learning-based solution reveals cuproptosis features in inflammatory bowel disease.
Liu L, Liang L, Yang C, Chen Y. Liu L, et al. Front Immunol. 2023 May 18;14:1136991. doi: 10.3389/fimmu.2023.1136991. eCollection 2023. Front Immunol. 2023. PMID: 37275904 Free PMC article.
Patients were subsequently classified into two clusters: low expression levels of DLD and PDHA1, and high expression levels of FDX1 were observed in Cluster 1 compared to Cluster 2. ...CONCLUSIONS: Cuproptosis has been implicated in IBD, with PDHA1, DLD, and FDX1 ha …
Patients were subsequently classified into two clusters: low expression levels of DLD and PDHA1, and high expression levels of FDX1 w …
Whole-genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting.
Westenius E, Conner P, Pettersson M, Sahlin E, Papadogiannakis N, Lindstrand A, Iwarsson E. Westenius E, et al. Ultrasound Obstet Gynecol. 2024 May;63(5):658-663. doi: 10.1002/uog.27592. Epub 2024 Apr 14. Ultrasound Obstet Gynecol. 2024. PMID: 38268232
Causative sequence variants were identified in 12 genes: FGFR3 (n = 2), ACTA1 (n = 1), CDH2 (n = 1), COL1A2 (n = 1), DHCR7 (n = 1), EYA1 (n = 1), FBXO11 (n = 1), FRAS1 (n = 1), L1CAM (n = 1), OFD1 (n = 1), PDHA1 (n = 1) and SOX9 (n = 1). The phenotypes of the cases were di …
Causative sequence variants were identified in 12 genes: FGFR3 (n = 2), ACTA1 (n = 1), CDH2 (n = 1), COL1A2 (n = 1), DHCR7 (n = 1), EYA1 (n …
63 results