PubMed (GeneRIF) for id: 4567

Year	Number of Results
2000	1
2001	2
2002	8
2003	6
2004	7
2005	2
2006	8
2007	7
2008	9
2009	8
2010	3
2011	2
2012	5
2013	6
2014	4
2015	2
2016	4
2017	4
2018	2
2020	1
2021	1
2024	0

1

Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy.

Campbell T, Lou X, Slone J, Brown J, Bromwell M, Liu J, Bai R, Haude K, Balog A, Cui H, Zou W, Yang L, Al-Beshri A, Huang T. Campbell T, et al. Hum Mutat. 2021 Feb;42(2):177-188. doi: 10.1002/humu.24143. Epub 2020 Dec 1. Hum Mutat. 2021. PMID: 33259687

2

The MELAS mutation m.3243A>G promotes reactivation of fetal cardiac genes and an epithelial-mesenchymal transition-like program via dysregulation of miRNAs.

Meseguer S, Panadero J, Navarro-González C, Villarroya M, Boutoual R, Comi GP, Armengod ME. Meseguer S, et al. Biochim Biophys Acta Mol Basis Dis. 2018 Sep;1864(9 Pt B):3022-3037. doi: 10.1016/j.bbadis.2018.06.014. Epub 2018 Jun 19. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 29928977 Free article.

3

Genetic mutational testing of Chinese children with familial hematuria with biopsy‑proven FSGS.

Li Y, Wang Y, He Q, Dang X, Cao Y, Wu X, Mo S, He X, Yi Z. Li Y, et al. Mol Med Rep. 2018 Jan;17(1):1513-1526. doi: 10.3892/mmr.2017.8023. Epub 2017 Nov 10. Mol Med Rep. 2018. PMID: 29138824 Free PMC article.

4

A hypertension-associated mitochondrial DNA mutation alters the tertiary interaction and function of tRNA^Leu(UUR).

Zhou M, Wang M, Xue L, Lin Z, He Q, Shi W, Chen Y, Jin X, Li H, Jiang P, Guan MX. Zhou M, et al. J Biol Chem. 2017 Aug 25;292(34):13934-13946. doi: 10.1074/jbc.M117.787028. Epub 2017 Jul 5. J Biol Chem. 2017. PMID: 28679533 Free PMC article.

5

The clinical characteristics of patients with mitochondrial tRNA Leu(UUR)m.3243A > G mutation: Compared with type 1 diabetes and early onset type 2 diabetes.

Zhu J, Yang P, Liu X, Yan L, Rampersad S, Li F, Li H, Sheng C, Cheng X, Zhang M, Qu S. Zhu J, et al. J Diabetes Complications. 2017 Aug;31(8):1354-1359. doi: 10.1016/j.jdiacomp.2017.04.001. Epub 2017 Apr 29. J Diabetes Complications. 2017. PMID: 28599824

6

Mitochondrial variations in the MT-ND4 and MT-TL1 genes are associated with male infertility.

Ni F, Zhou Y, Zhang WX, Wang XM, Song XM, Jiang H. Ni F, et al. Syst Biol Reprod Med. 2017 Feb;63(1):2-6. doi: 10.1080/19396368.2016.1256451. Epub 2016 Dec 14. Syst Biol Reprod Med. 2017. PMID: 27973917

7

Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination.

Ng YS, Feeney C, Schaefer AM, Holmes CE, Hynd P, Alston CL, Grady JP, Roberts M, Maguire M, Bright A, Taylor RW, Yiannakou Y, McFarland R, Turnbull DM, Gorman GS. Ng YS, et al. Ann Neurol. 2016 Nov;80(5):686-692. doi: 10.1002/ana.24736. Epub 2016 Sep 19. Ann Neurol. 2016. PMID: 27453452 Free PMC article.

8

The phenotypic spectrum of fifty Czech m.3243A>G carriers.

Dvorakova V, Kolarova H, Magner M, Tesarova M, Hansikova H, Zeman J, Honzik T. Dvorakova V, et al. Mol Genet Metab. 2016 Aug;118(4):288-95. doi: 10.1016/j.ymgme.2016.06.003. Epub 2016 Jun 6. Mol Genet Metab. 2016. PMID: 27296531

9

The Mitochondrial tRNALeu(UUR) A3302G Mutation may be Associated With Insulin Resistance in Woman With Polycystic Ovary Syndrome.

Ding Y, Zhuo G, Zhang C. Ding Y, et al. Reprod Sci. 2016 Feb;23(2):228-33. doi: 10.1177/1933719115602777. Epub 2015 Sep 2. Reprod Sci. 2016. PMID: 26335180

10

Early onset cardiomyopathy associated with the mitochondrial tRNALeu((UUR)) 3271T>C MELAS mutation.

Brisca G, Fiorillo C, Nesti C, Trucco F, Derchi M, Andaloro A, Assereto S, Morcaldi G, Pedemonte M, Minetti C, Santorelli FM, Bruno C. Brisca G, et al. Biochem Biophys Res Commun. 2015 Mar 13;458(3):601-604. doi: 10.1016/j.bbrc.2015.01.157. Epub 2015 Feb 11. Biochem Biophys Res Commun. 2015. PMID: 25680467 Review.

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