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MEDICINA CLINICA, ISSN 0025-7753, 10/2017, Volume 149, Issue 7, pp. 315 - 315
Journal Article
Transplantation Proceedings, ISSN 0041-1345, 07/2019, Volume 51, Issue 6, pp. 1754 - 1757
Although high tacrolimus (FK) intrapatient variability (IPV) was shown to be associated with poor graft outcome in kidney transplant recipients (KTRs), it is... 
SURGERY | 6986A-GREATER-THAN-G | CLEARANCE | GENOTYPE | IMMUNOLOGY | VARIANT | TRANSPLANTATION
Journal Article
PLOS ONE, ISSN 1932-6203, 04/2014, Volume 9, Issue 4
Follicle-Stimulating Hormone Receptor (FSHR) -29G/ A polymorphism (rs1394205) was reported to modulate gene expression and reproductive parameters in women,... 
MALE-INFERTILITY | POPULATION | MULTIDISCIPLINARY SCIENCES | 2039A-GREATER-THAN-G | PROMOTER POLYMORPHISM | RECEPTOR | SERUM FSH | LEVEL | ASSOCIATION | EXPRESSION
Journal Article
Journal of Hepatology, ISSN 0168-8278, 2016, Volume 65, Issue 2, pp. 399 - 412
Journal Article
by Jiang, PP and Wang, M and Xue, L and Xiao, Y and Yu, JL and Wang, H and Yao, J and Liu, H and Peng, YY and Liu, HQ and Li, HY and Chen, Y and Guan, MX
MOLECULAR AND CELLULAR BIOLOGY, ISSN 0270-7306, 07/2016, Volume 36, Issue 14, pp. 1920 - 1930
In this report, we investigated the pathophysiology of a novel hypertension-associated mitochondrial tRNA(Ala) 5655A -> G (m.5655A -> G) mutation. The... 
MATERNALLY INHERITED HYPERTENSION | DNA MUTATION | SUPEROXIDE-PRODUCTION | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISEASE | HAN CHINESE FAMILIES | DEAFNESS | HEREDITARY OPTIC NEUROPATHY | HEALTH | IDENTIFICATION | 4435A-GREATER-THAN-G MUTATION | CELL BIOLOGY
Journal Article
by Jia, ZD and Zhang, Y and Li, Q and Ye, ZZ and Liu, YQ and Fu, CZ and Cang, XH and Wang, M and Guan, MX
NUCLEIC ACIDS RESEARCH, ISSN 0305-1048, 02/2019, Volume 47, Issue 4, pp. 2056 - 2074
The tissue specificity of mitochondrial tRNA mutations remains largely elusive. In this study, we demonstrated the deleterious effects of tRNA(Thr) 15927G>A... 
MATERNALLY INHERITED HYPERTENSION | PHENOTYPIC MANIFESTATION | COMPLEX I | DNA MUTATION | OXIDATIVE STRESS | MG37 MODIFICATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | 12S RIBOSOMAL-RNA | BIOCHEMICAL-EVIDENCE | NUCLEAR MODIFIER | 4435A-GREATER-THAN-G MUTATION
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 09/2015, Volume 116, Issue 1-2, pp. 4 - 12
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most frequent maternally inherited mitochondrial... 
Encephalomyopathy | Angiopathy | Arginine | Endothelial dysfunction | Mitochondrial diseases | Citrulline | Lactic acidosis | Nitric oxide deficiency | MEDICINE, RESEARCH & EXPERIMENTAL | 3243A-GREATER-THAN-G MUTATION | A3243G MUTATION | MITOCHONDRIAL MYOPATHY | COENZYME Q | INSULIN-RESISTANCE | TRANSFER RNALEU(UUR) GENE | L-ARGININE | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | NITRIC-OXIDE | STROKE-LIKE EPISODES | LACTIC-ACIDOSIS | Endocrine System Diseases - metabolism | Acidosis, Lactic - genetics | Humans | Cardiovascular Diseases - therapy | RNA, Transfer, Leu - metabolism | Ubiquinone - therapeutic use | Endocrine System Diseases - therapy | Nervous System Diseases - metabolism | MELAS Syndrome - therapy | RNA, Transfer, Leu - genetics | Cardiovascular Diseases - metabolism | Muscular Diseases - metabolism | Ubiquinone - analogs & derivatives | Gastrointestinal Diseases - therapy | Mitochondria - metabolism | MELAS Syndrome - physiopathology | Mitochondria - pathology | Nervous System Diseases - therapy | Gastrointestinal Diseases - metabolism | Carnitine - therapeutic use | MELAS Syndrome - pathology | Acidosis, Lactic - metabolism | Energy Transfer | Arginine - therapeutic use | Nitric Oxide - metabolism | Muscular Diseases - therapy | Stroke (Disease) | Enzymes | Care and treatment | Nitric oxide | Protein biosynthesis | Mitochondrial DNA | Carnitine | Medical colleges | Dementia | Endothelium
Journal Article
Mitochondrion, ISSN 1567-7249, 05/2019, Volume 46, pp. 69 - 72
Two patients with an m.8340G>A mitochondrial DNA variant have been reported with one patient showing ptosis, ophthalmoparesis and myopathy at 53% heteroplasmy... 
MYOCLONIC EPILEPSY | MERRF | MTDNA | DISEASE | GENETICS & HEREDITY | MUSCLE | DEAFNESS | DYSFUNCTION | RAGGED-RED FIBERS | 3243A-GREATER-THAN-G | CELL BIOLOGY | Deafness | Genetic aspects | Mitochondrial DNA | Ophthalmology | Molecular genetics
Journal Article