173 related articles for article (PubMed ID: 9389715)
1. Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia.
Gattermann N; Retzlaff S; Wang YL; Hofhaus G; Heinisch J; Aul C; Schneider W
Blood; 1997 Dec; 90(12):4961-72. PubMed ID: 9389715
[TBL] [Abstract][Full Text] [Related]
2. A heteroplasmic point mutation of mitochondrial tRNALeu(CUN) in non-lymphoid haemopoietic cell lineages from a patient with acquired idiopathic sideroblastic anaemia.
Gattermann N; Retzlaff S; Wang YL; Berneburg M; Heinisch J; Wlaschek M; Aul C; Schneider W
Br J Haematol; 1996 Jun; 93(4):845-55. PubMed ID: 8703816
[TBL] [Abstract][Full Text] [Related]
3. From sideroblastic anemia to the role of mitochondrial DNA mutations in myelodysplastic syndromes.
Gattermann N
Leuk Res; 2000 Feb; 24(2):141-51. PubMed ID: 10654450
[TBL] [Abstract][Full Text] [Related]
4. MtDNA mutations associated with sideroblastic anaemia cause a defect of mitochondrial cytochrome c oxidase.
Bröker S; Meunier B; Rich P; Gattermann N; Hofhaus G
Eur J Biochem; 1998 Nov; 258(1):132-8. PubMed ID: 9851701
[TBL] [Abstract][Full Text] [Related]
5. Different pathophysiological mechanisms of intramitochondrial iron accumulation in acquired and congenital sideroblastic anemia caused by mitochondrial DNA deletion.
Matthes T; Rustin P; Trachsel H; Darbellay R; Costaridou S; Xaidara A; Rideau A; Beris P
Eur J Haematol; 2006 Aug; 77(2):169-74. PubMed ID: 16856911
[TBL] [Abstract][Full Text] [Related]
6. Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.
Hanna MG; Nelson IP; Rahman S; Lane RJ; Land J; Heales S; Cooper MJ; Schapira AH; Morgan-Hughes JA; Wood NW
Am J Hum Genet; 1998 Jul; 63(1):29-36. PubMed ID: 9634511
[TBL] [Abstract][Full Text] [Related]
7. Is acquired idiopathic sideroblastic anemia (AISA) a disorder of mitochondrial DNA?
Gattermann N; Aul C; Schneider W
Leukemia; 1993 Dec; 7(12):2069-76. PubMed ID: 8255108
[No Abstract] [Full Text] [Related]
8. [Mutation of mitochondria cytochrome oxidase gene in patients with myelodysplastic syndrome].
Hou L; Liu T; Meng WT
Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2008 Aug; 16(4):809-12. PubMed ID: 18718066
[TBL] [Abstract][Full Text] [Related]
9. An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy.
Clark KM; Taylor RW; Johnson MA; Chinnery PF; Chrzanowska-Lightowlers ZM; Andrews RM; Nelson IP; Wood NW; Lamont PJ; Hanna MG; Lightowlers RN; Turnbull DM
Am J Hum Genet; 1999 May; 64(5):1330-9. PubMed ID: 10205264
[TBL] [Abstract][Full Text] [Related]
10. A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy.
Rahman S; Taanman JW; Cooper JM; Nelson I; Hargreaves I; Meunier B; Hanna MG; García JJ; Capaldi RA; Lake BD; Leonard JV; Schapira AH
Am J Hum Genet; 1999 Oct; 65(4):1030-9. PubMed ID: 10486321
[TBL] [Abstract][Full Text] [Related]
11. Cytochrome c oxidase mutations in Leber hereditary optic neuropathy.
Johns DR; Neufeld MJ
Biochem Biophys Res Commun; 1993 Oct; 196(2):810-5. PubMed ID: 8240356
[TBL] [Abstract][Full Text] [Related]
12. A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV.
Bruno C; Martinuzzi A; Tang Y; Andreu AL; Pallotti F; Bonilla E; Shanske S; Fu J; Sue CM; Angelini C; DiMauro S; Manfredi G
Am J Hum Genet; 1999 Sep; 65(3):611-20. PubMed ID: 10441567
[TBL] [Abstract][Full Text] [Related]
13. Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder.
Kytövuori L; Kärppä M; Tuominen H; Uusimaa J; Saari M; Hinttala R; Majamaa K
BMC Neurol; 2017 May; 17(1):96. PubMed ID: 28521807
[TBL] [Abstract][Full Text] [Related]
14. Mitochondrial DNA mutations in patients with myelodysplastic syndromes.
Shin MG; Kajigaya S; Levin BC; Young NS
Blood; 2003 Apr; 101(8):3118-25. PubMed ID: 12446454
[TBL] [Abstract][Full Text] [Related]
15. A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene.
Manfredi G; Schon EA; Moraes CT; Bonilla E; Berry GT; Sladky JT; DiMauro S
Neuromuscul Disord; 1995 Sep; 5(5):391-8. PubMed ID: 7496173
[TBL] [Abstract][Full Text] [Related]
16. Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function.
Fayet G; Jansson M; Sternberg D; Moslemi AR; Blondy P; Lombès A; Fardeau M; Oldfors A
Neuromuscul Disord; 2002 Jun; 12(5):484-93. PubMed ID: 12031622
[TBL] [Abstract][Full Text] [Related]
17. A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy.
Fu K; Hartlen R; Johns T; Genge A; Karpati G; Shoubridge EA
Hum Mol Genet; 1996 Nov; 5(11):1835-40. PubMed ID: 8923013
[TBL] [Abstract][Full Text] [Related]
18. Two point mutations in mitochondrial DNA of cytochrome c oxidase coexist with normal mtDNA in a patient with Alzheimer's disease.
Qiu X; Chen Y; Zhou M
Brain Res; 2001 Mar; 893(1-2):261-3. PubMed ID: 11223014
[TBL] [Abstract][Full Text] [Related]
19. A novel heteroplasmic point mutation in the mitochondrial tRNA(Lys) gene in a sporadic case of mitochondrial encephalomyopathy: de novo mutation and no transmission to the offspring.
Houshmand M; Lindberg C; Moslemi AR; Oldfors A; Holme E
Hum Mutat; 1999; 13(3):203-9. PubMed ID: 10090475
[TBL] [Abstract][Full Text] [Related]
20. [Acquired idiopathic sideroblastic anemia].
Kitajima H
Nihon Rinsho; 2002 Apr; 60 Suppl 4():328-31. PubMed ID: 12013878
[No Abstract] [Full Text] [Related]
[Next] [New Search]