Associated Papers
Optic neuropathy arising from the synergy between YARS2 and mitochondrial COX1 mutations.
Li H et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2026
Correlation of MLASA2 Clinical Phenotype and Survival with Mt-TyrRS Protein Damage: Linking Systematic Review, Meta-Analysis and 3D Hotspot Mapping.
Villafan-Bernal JR et al.
Current Issues in Molecular Biology, 2026
First Latin American Case of MLASA2 Caused by a Pathogenic Variant in the Anticodon-Binding Domain of YARS2.
Villafán-Bernal JR et al.
International Journal of Molecular Sciences, 2025
Risk Factors Associated With Leber Hereditary Optic Neuropathy due to Rare Mutations in Mitochondrial DNA-Encoded Respiratory Complex I Subunits.
Bayona-Bafaluy P et al.
Clinical Genetics, 2025
A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024.
Ahmad R et al.
Neurogenetics, 2025
Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma.
Linder A et al.
Human Reproduction (oxford, England), 2024
Clinical and genetic analysis of essential hypertension with mitochondrial tRNAMet 4435A>G and YARS2 mutation.
Guo M et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2024
Induced pluripotent stem cells: ex vivo models for human diseases due to mitochondrial DNA mutations.
Chen C et al.
Journal of Biomedical Science, 2023
Nuclear modifier YARS2 allele correction restored retinal ganglion cells-specific deficiencies in Leber's hereditary optic neuropathy.
Chen JR et al.
Human Molecular Genetics, 2023
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Levy MA et al.
Hgg Advances, 2022
Leber's Hereditary Optic Neuropathy Arising From the Synergy Between ND1 3635G>A Mutation and Mitochondrial YARS2 Mutations.
Jin X et al.
Investigative Ophthalmology & Visual Science, 2021
Whole-Exome Sequencing Identifies Small Mutations in Pakistani Muscular Dystrophy Patients.
Zehravi M et al.
Genetic Testing and Molecular Biomarkers, 2021
Leber's Hereditary Optic Neuropathy: the roles of mitochondrial transfer RNA variants.
Ding Y et al.
Peerj, 2021
Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy.
Ji Y et al.
The Journal of Biological Chemistry, 2020
Mitochondrial tRNA mutations in 887 Chinese subjects with hearing loss.
Zheng J et al.
Mitochondrion, 2020
Contribution of a mitochondrial tyrosyl-tRNA synthetase mutation to the phenotypic expression of the deafness-associated tRNASer(UCN) 7511A>G mutation.
Fan W et al.
The Journal of Biological Chemistry, 2019
Contribution of mitochondrial ND1 3394T>C mutation to the phenotypic manifestation of Leber's hereditary optic neuropathy.
Ji Y et al.
Human Molecular Genetics, 2019
The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2.
Riley LG et al.
Haematologica, 2018
KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV: Insights Into the Variable Clinical Severity.
Ravindranath Y et al.
Journal of Pediatric Hematology/oncology, 2018
Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing.
Bris C et al.
Frontiers in Genetics, 2018
A novel ADOA-associated OPA1 mutation alters the mitochondrial function, membrane potential, ROS production and apoptosis.
Zhang J et al.
Scientific Reports, 2017
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 et al.
Human Molecular Genetics, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.
Riley LG et al.
Orphanet Journal of Rare Diseases, 2013
An animal model for mitochondrial tyrosyl-tRNA synthetase deficiency reveals links between oxidative phosphorylation and retinal function.
Jin X et al.
The Journal of Biological Chemistry, 0