Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia.
about
The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure.Mitochondrial defects in cancerMitochondrial cytochrome c oxidase deficiencySite-directed mutations in the mitochondrially encoded subunits I and III of yeast cytochrome oxidase.mtDNA mutations increase tumorigenicity in prostate cancer.Assessment of cytochrome C oxidase dysfunction in the substantia nigra/ventral tegmental area in schizophrenia.SOD2 deficient erythroid cells up-regulate transferrin receptor and down-regulate mitochondrial biogenesis and metabolism.De novo mtDNA point mutations are common and have a low recurrence risk.A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV.Structural analysis of mitochondrial mutations reveals a role for bigenomic protein interactions in human diseaseMitochondrial threshold effects.The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading.Exercise intolerance and developmental delay associated with a novel mitochondrial ND5 mutation.Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing.Cytochrome c oxidase dysfunction in oxidative stress.Absence of mitochondrial superoxide dismutase results in a murine hemolytic anemia responsive to therapy with a catalytic antioxidant.Mitochondrial iron chelation ameliorates cigarette smoke-induced bronchitis and emphysema in mice.Enhanced growth of myelodysplastic colonies in hypoxic conditionsExocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene.Erythroid dysplasia, megaloblastic anemia, and impaired lymphopoiesis arising from mitochondrial dysfunction.Sideroblastic anaemia and primary adrenal insufficiency due to a mitochondrial respiratory chain disorder in the absence of mtDNA deletion.
P2860
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P2860
Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia.
description
1997 nî lūn-bûn
@nan
1997 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Heteroplasmic point mutations ...... iopathic sideroblastic anemia.
@ast
Heteroplasmic point mutations ...... iopathic sideroblastic anemia.
@en
Heteroplasmic point mutations ...... iopathic sideroblastic anemia.
@nl
type
label
Heteroplasmic point mutations ...... iopathic sideroblastic anemia.
@ast
Heteroplasmic point mutations ...... iopathic sideroblastic anemia.
@en
Heteroplasmic point mutations ...... iopathic sideroblastic anemia.
@nl
prefLabel
Heteroplasmic point mutations ...... iopathic sideroblastic anemia.
@ast
Heteroplasmic point mutations ...... iopathic sideroblastic anemia.
@en
Heteroplasmic point mutations ...... iopathic sideroblastic anemia.
@nl
P2093
P1433
P1476
Heteroplasmic point mutations ...... diopathic sideroblastic anemia
@en
P2093
Gattermann N
Heinisch J
Retzlaff S
Schneider W
P304
P407
P577
1997-12-01T00:00:00Z