Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?
about
Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31New evidence of a mitochondrial genetic background paradox: impact of the J haplogroup on the A3243G mutation.Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: patient report and literature review.Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafnessMitochondrial myopathies and encephalomyopathies.Does the patient have a mitochondrial encephalomyopathy?Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts.De novo mtDNA point mutations are common and have a low recurrence risk.Clinical mitochondrial genetics.A novel mitochondrial tRNA(Val) T1658C mutation identified in a CPEO family.Frequent intracellular clonal expansions of somatic mtDNA mutations: significance and mechanisms.Clinical spectrum and diagnosis of mitochondrial disorders.Mutation C3256T of mitochondrial genome in white blood cells: novel genetic marker of atherosclerosis and coronary heart disease.The expression level of the voltage-dependent anion channel controls life and death of the cell.Abnormal calcium homeostasis and mitochondrial polarization in a human encephalomyopathy.Somatic mtDNA mutation spectra in the aging human putamen.A new mtDNA mutation showing accumulation with time and restriction to skeletal muscleFrequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies.Techniques and pitfalls in the detection of pathogenic mitochondrial DNA mutations.Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus.The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment.Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).Evidence that specific mtDNA point mutations may not accumulate in skeletal muscle during normal human agingThe A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndromeAssociation of mitochondrial genetic variation with carotid atherosclerosisClinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation.The inheritance of pathogenic mitochondrial DNA mutations.Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: an overview study.Comprehensive, rapid and sensitive detection of sequence variants of human mitochondrial tRNA genes.A disease-associated G5703A mutation in human mitochondrial DNA causes a conformational change and a marked decrease in steady-state levels of mitochondrial tRNA(Asn).An N-terminal nucleotide-binding site in VDAC1: involvement in regulating mitochondrial function.Heavy traffic at a dual-purpose human mitochondrial tRNA gene.The yeast counterparts of human 'MELAS' mutations cause mitochondrial dysfunction that can be rescued by overexpression of the mitochondrial translation factor EF-Tu.Repopulation of rho0 cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNA(Gly) results in respiratory chain dysfunction.Quantitative assessment of heteroplasmy of mitochondrial genome: perspectives in diagnostics and methodological pitfalls.Functional and molecular mitochondrial abnormalities associated with a C --> T transition at position 3256 of the human mitochondrial genome. The effects of a pathogenic mitochondrial tRNA point mutation in organelle translation and RNA processing.Genetic mutational testing of Chinese children with familial hematuria with biopsy‑proven FSGS.Mutation Analysis of the Mitochondrial tRNA Genes in Iranian Coronary Atherosclerosis Patients.Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant.Arabidopsis kinesin KP1 specifically interacts with VDAC3, a mitochondrial protein, and regulates respiration during seed germination at low temperature.
P2860
Q28146262-F063D722-1CE2-4C7D-8A40-8583E57EFB41Q33332350-6B9D7FAC-1E45-4D02-AED5-3912B664BC38Q33678075-5A432871-A42F-4349-9569-32DD10FED6AEQ33682328-E43D5FFC-4564-487D-A815-52CF7EBABFA4Q33785697-BA1C00E9-AB77-480A-9C57-7C4964E1536DQ33792208-851A0608-F4DD-410D-8876-3B4D469EEF17Q33853426-FD5453F8-BF59-4C85-BC67-2D1C58604D5FQ33886230-5B5872F3-436A-4F87-AE8B-A26DC9E463E5Q33955376-A4465833-B168-4629-B036-BF8EFDDFA9BCQ34081382-D908BFF3-E4A1-406B-9421-EF7532AE6F2FQ34125463-E88C9E73-D4BF-4040-93A4-84DF878BBBB0Q34386724-266D9265-5E1D-46F5-8296-04C54521E26AQ34441663-613E2DD4-16F5-4DB6-8506-B0BCF4F9375DQ34596002-87FCA883-1FA6-40FD-9AFD-24253F5963A1Q34723156-23CAE8BA-845F-4959-BD6A-F89637532274Q35067263-00332EF5-9171-4391-86D1-43EC84C740E9Q35238359-2860C154-474A-4D76-BF81-008DC1DF1D09Q35436157-568BBDFB-18AC-4319-9012-DE52909A2AB9Q35565985-220F4D3C-85AF-4CD0-8341-906ACC974276Q35644235-7A6FE1BE-033C-4A88-95E1-A802401057C9Q35768320-6C16E710-2E40-43E0-913B-7049042C4867Q35881649-D76CDD00-25A4-4109-B281-3A3D18BBB13CQ35882371-94226C32-DC25-45FC-990F-FD2F7D636134Q36894187-5057AEBA-E714-4C57-8662-07139B31CAD1Q36997420-A8BE73F6-7F30-4875-BFF1-8ABFA4FFFF62Q37092297-62D4C4C3-D808-4B5D-B820-FAD4F50FE8D5Q37419954-6E876154-1D12-44AD-9591-0AFE6E42D28BQ38072715-070CB81F-DB83-4DED-BDC3-CEDD9C1BBEF6Q39720312-D90596A0-C6D3-4126-B05F-23C7597ABE37Q40023968-9729D014-47DE-40CD-8507-F9A1376B9E18Q40132815-C6657C39-1121-4563-8DE7-D56838553D64Q40305895-26CBB38E-C05B-47D7-B829-8BF008274501Q40663427-281B9562-CABF-45C5-A614-AEDD4139EAA8Q40965450-70B3858B-7CC9-4FAF-AEC3-C5BA40D4D795Q41213847-EF42058C-27FB-488D-927A-6A243C5D63C5Q41237196-CA12970F-1D72-43AA-B870-9F6CB1C00887Q47401355-804271A9-349F-4889-808B-73C5F5013B81Q49188878-836D419D-DBCA-4AF1-A529-CE792A1DD0A2Q49342881-51C6F49A-1F07-41D0-A9A4-699630807F34Q52609065-883CB7B3-EA19-4224-9BAD-53133DA4FFDE
P2860
Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?
description
1993 nî lūn-bûn
@nan
1993 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Two novel pathogenic mitochond ...... )) gene an etiologic hot spot?
@ast
Two novel pathogenic mitochond ...... )) gene an etiologic hot spot?
@en
type
label
Two novel pathogenic mitochond ...... )) gene an etiologic hot spot?
@ast
Two novel pathogenic mitochond ...... )) gene an etiologic hot spot?
@en
prefLabel
Two novel pathogenic mitochond ...... )) gene an etiologic hot spot?
@ast
Two novel pathogenic mitochond ...... )) gene an etiologic hot spot?
@en
P2093
P2860
P356
P1476
Two novel pathogenic mitochond ...... )) gene an etiologic hot spot?
@en
P2093
Lovelace RE
Rowland LP
P2860
P304
P356
10.1172/JCI116913
P407
P577
1993-12-01T00:00:00Z