Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness.
about
The human mitochondrial transcription termination factor (mTERF) is a multizipper protein but binds to DNA as a monomer, with evidence pointing to intramolecular leucine zipper interactions.Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1Deficiency of phosphofructo-1-kinase/muscle subtype in humans impairs insulin secretion and causes insulin resistanceGenetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE studyGenetics, environment, and diabetes-related end-stage renal disease in the Canary IslandsMolecular mechanisms of insulin resistance in humans and their potential links with mitochondrial dysfunctionMitochondrial DNA mutations in human diseaseMacular dystrophy associated with the mitochondrial DNA A3243G mutation: pericentral pigment deposits or atrophy? Report of two cases and review of the literatureReactive oxygen species, apoptosis, and mitochondrial dysfunction in hearing loss.tRNA biology in mitochondriaA peep into mitochondrial disorder: multifaceted from mitochondrial DNA mutations to nuclear gene modulationMitochondrial regulation of β-cell function: maintaining the momentum for insulin releaseModification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current conceptsGenetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutationReduced expression of mitochondrial frataxin in mice exacerbates diet-induced obesityAbsence of a reductase, NCB5OR, causes insulin-deficient diabetesRole of polynucleotide kinase/phosphatase in mitochondrial DNA repairAutoantibodies against CD38 (ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase) that impair glucose-induced insulin secretion in noninsulin- dependent diabetes patientsMitochondrial DNA disease and developmental implications for reproductive strategiesFrequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screeningGenetic association analysis of LARS2 with type 2 diabetesParent-of-origin effects on glucose homeostasis in polycystic ovary syndrome.Hearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutation.Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.At the speed of sound: gene discovery in the auditory systemSwitch to anaerobic glucose metabolism with NADH accumulation in the beta-cell model of mitochondrial diabetes. Characteristics of betaHC9 cells deficient in mitochondrial DNA transcription.Simultaneous copy number losses within multiple subtelomeric regions in early-onset type 2 diabetes mellitusMinisequencing mitochondrial DNA pathogenic mutations.New evidence of a mitochondrial genetic background paradox: impact of the J haplogroup on the A3243G mutation.The mitochondrial A10398G polymorphism, interaction with alcohol consumption, and breast cancer risk.Type 1 1/2 diabetes: myth or reality?Mitochondrial deafness mutations reviewed.Mitochondrial metabolism and diabetesBeginning of a molecular era in hearing and deafness.The road to rack and ruin: selecting deleterious mitochondrial DNA variantsTransmission of mitochondrial DNA diseases and ways to prevent them.Plasma lactate and diabetes risk in 8045 participants of the atherosclerosis risk in communities studyEarly onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: patient report and literature review.Pancreatic exocrine dysfunction associated with mitochondrial tRNA(Leu)(UUR) mutation.
P2860
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P2860
Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness.
description
1992 nî lūn-bûn
@nan
1992年の論文
@ja
1992年学术文章
@wuu
1992年学术文章
@zh
1992年学术文章
@zh-cn
1992年学术文章
@zh-hans
1992年学术文章
@zh-my
1992年学术文章
@zh-sg
1992年學術文章
@yue
1992年學術文章
@zh-hant
name
Mutation in mitochondrial tRNA
@nl
Mutation in mitochondrial tRNA ...... iabetes mellitus and deafness.
@en
type
label
Mutation in mitochondrial tRNA
@nl
Mutation in mitochondrial tRNA ...... iabetes mellitus and deafness.
@en
prefLabel
Mutation in mitochondrial tRNA
@nl
Mutation in mitochondrial tRNA ...... iabetes mellitus and deafness.
@en
P2093
P2860
P356
P1433
P1476
Mutation in mitochondrial tRNA ...... iabetes mellitus and deafness.
@en
P2093
Maassen JA
Ruitenbeek W
Sandkuijl LA
Struyvenberg PA
de Vijlder MF
van de Kamp JJ
van den Ouweland JM
P2860
P2888
P304
P356
10.1038/NG0892-368
P407
P577
1992-08-01T00:00:00Z