348 related articles for article (PubMed ID: 31939618)
1. Mitochondrial tRNAAla 5601C>T variant may affect the clinical expression of the LHON‑related ND4 11778G>A mutation in a family.
Ding Y; Ye YF; Li MY; Xia BH; Leng JH
Mol Med Rep; 2020 Jan; 21(1):201-208. PubMed ID: 31939618
[TBL] [Abstract][Full Text] [Related]
2. Leber's Hereditary Optic Neuropathy-Specific Mutation m.11778G>A Exists on Diverse Mitochondrial Haplogroups in India.
Khan NA; Govindaraj P; Soumittra N; Sharma S; Srilekha S; Ambika S; Vanniarajan A; Meena AK; Uppin MS; Sundaram C; Bindu PS; Gayathri N; Taly AB; Thangaraj K
Invest Ophthalmol Vis Sci; 2017 Aug; 58(10):3923-3930. PubMed ID: 28768321
[TBL] [Abstract][Full Text] [Related]
3. Mitochondrial haplogroup D4j specific variant m.11696G > a(MT-ND4) may increase the penetrance and expressivity of the LHON-associated m.11778G > a mutation in Chinese pedigrees.
Xie S; Zhang J; Sun J; Zhang M; Zhao F; Wei QP; Tong Y; Liu X; Zhou X; Jiang P; Ji Y; Guan MX
Mitochondrial DNA A DNA Mapp Seq Anal; 2017 May; 28(3):434-441. PubMed ID: 27159682
[TBL] [Abstract][Full Text] [Related]
4. Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.
Jiang P; Liang M; Zhang C; Zhao X; He Q; Cui L; Liu X; Sun YH; Fu Q; Ji Y; Bai Y; Huang T; Guan MX
Hum Mol Genet; 2016 Aug; 25(16):3613-3625. PubMed ID: 27427386
[TBL] [Abstract][Full Text] [Related]
5. Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation.
Zhou X; Zhang H; Zhao F; Ji Y; Tong Y; Zhang J; Zhang Y; Yang L; Qian Y; Lu F; Qu J; Guan MX
Mol Genet Metab; 2010 Aug; 100(4):379-84. PubMed ID: 20627642
[TBL] [Abstract][Full Text] [Related]
6. The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.
Jiang P; Jin X; Peng Y; Wang M; Liu H; Liu X; Zhang Z; Ji Y; Zhang J; Liang M; Zhao F; Sun YH; Zhang M; Zhou X; Chen Y; Mo JQ; Huang T; Qu J; Guan MX
Hum Mol Genet; 2016 Feb; 25(3):584-96. PubMed ID: 26647310
[TBL] [Abstract][Full Text] [Related]
7. Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation.
Qu J; Zhou X; Zhang J; Zhao F; Sun YH; Tong Y; Wei QP; Cai W; Yang L; West CE; Guan MX
Ophthalmology; 2009 Mar; 116(3):558-564.e3. PubMed ID: 19167085
[TBL] [Abstract][Full Text] [Related]
8. Prevalence of Mitochondrial ND4 Mutations in 1281 Han Chinese Subjects With Leber's Hereditary Optic Neuropathy.
Jiang P; Liang M; Zhang J; Gao Y; He Z; Yu H; Zhao F; Ji Y; Liu X; Zhang M; Fu Q; Tong Y; Sun Y; Zhou X; Huang T; Qu J; Guan MX
Invest Ophthalmol Vis Sci; 2015 Jul; 56(8):4778-88. PubMed ID: 26218905
[TBL] [Abstract][Full Text] [Related]
9. [The analysis of Leber's hereditary optic neuropathy associated with mitochondrial tRNAAla C5601T mutation in seven Han Chinese families].
Zhou HH; Dai XN; Lin B; Mi H; Liu XL; Zhao FX; Zhang JJ; Zhou XT; Sun YH; Wei QP; Qu J; Guan MX
Yi Chuan; 2012 Aug; 34(8):1031-42. PubMed ID: 22917908
[TBL] [Abstract][Full Text] [Related]
10. Mitochondrial tRNA variants in 811 Chinese probands with Leber's hereditary optic neuropathy.
Ji Y; Zhang J; Liang M; Meng F; Zhang M; Mo JQ; Wang M; Guan MX
Mitochondrion; 2022 Jul; 65():56-66. PubMed ID: 35623556
[TBL] [Abstract][Full Text] [Related]
11. Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy.
Ji Y; Zhang J; Lu Y; Yi Q; Chen M; Xie S; Mao X; Xiao Y; Meng F; Zhang M; Yang R; Guan MX
J Biol Chem; 2020 Sep; 295(38):13224-13238. PubMed ID: 32723871
[TBL] [Abstract][Full Text] [Related]
12. Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family.
Qu J; Li R; Zhou X; Tong Y; Yang L; Chen J; Zhao F; Lu C; Qian Y; Lu F; Guan MX
Mitochondrion; 2007; 7(1-2):140-6. PubMed ID: 17300996
[TBL] [Abstract][Full Text] [Related]
13. Mitochondrial variants may influence the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutation.
Cai W; Fu Q; Zhou X; Qu J; Tong Y; Guan MX
J Genet Genomics; 2008 Nov; 35(11):649-55. PubMed ID: 19022198
[TBL] [Abstract][Full Text] [Related]
14. Mitochondrial haplogroup M9a specific variant ND1 T3394C may have a modifying role in the phenotypic expression of the LHON-associated ND4 G11778A mutation.
Zhang M; Zhou X; Li C; Zhao F; Zhang J; Yuan M; Sun YH; Wang J; Tong Y; Liang M; Yang L; Cai W; Wang L; Qu J; Guan MX
Mol Genet Metab; 2010; 101(2-3):192-9. PubMed ID: 20728388
[TBL] [Abstract][Full Text] [Related]
15. Leber's hereditary optic neuropathy affects only female matrilineal relatives in two Chinese families.
Qu J; Wang Y; Tong Y; Zhou X; Zhao F; Yang L; Zhang S; Zhang J; West CE; Guan MX
Invest Ophthalmol Vis Sci; 2010 Oct; 51(10):4906-12. PubMed ID: 20435583
[TBL] [Abstract][Full Text] [Related]
16. Very low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation.
Tong Y; Sun YH; Zhou X; Zhao F; Mao Y; Wei QP; Yang L; Qu J; Guan MX
Mol Genet Metab; 2010 Apr; 99(4):417-24. PubMed ID: 20053576
[TBL] [Abstract][Full Text] [Related]
17. Leber's Hereditary Optic Neuropathy is Associated with Compound Primary Mutations of Mitochondrial ND1 m.3635G > A and ND6 m.14502 T > C.
Jin X; Wang L; Gong Y; Chen B; Wang Y; Chen T; Wei S
Ophthalmic Genet; 2015; 36(4):291-8. PubMed ID: 24417559
[TBL] [Abstract][Full Text] [Related]
18. Low penetrance of Leber's hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutation.
Qu J; Zhou X; Zhao F; Liu X; Zhang M; Sun YH; Liang M; Yuan M; Liu Q; Tong Y; Wei QP; Yang L; Guan MX
Biochim Biophys Acta; 2010 Mar; 1800(3):305-12. PubMed ID: 19733221
[TBL] [Abstract][Full Text] [Related]
19. Leber's hereditary optic neuropathy is associated with the T12338C mutation in mitochondrial ND5 gene in six Han Chinese families.
Liu XL; Zhou X; Zhou J; Zhao F; Zhang J; Li C; Ji Y; Zhang Y; Wei QP; Sun YH; Yang L; Lin B; Yuan Y; Li Y; Qu J; Guan MX
Ophthalmology; 2011 May; 118(5):978-85. PubMed ID: 21131053
[TBL] [Abstract][Full Text] [Related]
20. Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated ND1 G3460A mutation in Chinese families.
Ji Y; Liang M; Zhang J; Zhang M; Zhu J; Meng X; Zhang S; Gao M; Zhao F; Wei QP; Jiang P; Tong Y; Liu X; Qin Mo J; Guan MX
J Hum Genet; 2014 Mar; 59(3):134-40. PubMed ID: 24430572
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
