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Widespread multi-tissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.

作者信息

Cormier V, Rötig A, Quartino A R, Forni G L, Cerone R, Maier M, Saudubray J M, Munnich A

机构信息

INSERM U-12, Hôpital des Enfants-Malades, Paris, France.

出版信息

J Pediatr. 1990 Oct;117(4):599-602. doi: 10.1016/s0022-3476(05)80698-5.

DOI:10.1016/s0022-3476(05)80698-5
PMID:2213388
Abstract
摘要

相似文献

1
Widespread multi-tissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.Pearson骨髓-胰腺综合征中线粒体基因组广泛的多组织缺失。
J Pediatr. 1990 Oct;117(4):599-602. doi: 10.1016/s0022-3476(05)80698-5.
2
[Pearson's syndrome: a multi-system disorder based on a mt-DNA deletion].[皮尔逊综合征：一种基于线粒体DNA缺失的多系统疾病]
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3
Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome.患有进行性眼外肌麻痹的母亲和患有皮尔逊骨髓-胰腺综合征的儿子存在相同的线粒体DNA缺失。
J Pediatr. 1993 Oct;123(4):598-602. doi: 10.1016/s0022-3476(05)80962-x.
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Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.
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[Pearson syndrome. Case report].[皮尔逊综合征。病例报告]
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[Metabolic, enzymological and molecular assessment of mitochondrial cytopathies].
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Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.一名线粒体DNA缺失患者的皮尔逊综合征和线粒体脑肌病
Am J Hum Genet. 1991 Jan;48(1):39-42.
8
Molecular and genetic analyses of two patients with Pearson's marrow-pancreas syndrome.
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9
Detection of extremely low levels of wild-type mitochondrial DNA in the liver of a patient with Pearson syndrome by a sensitive PCR assay.
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Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome.Pearson骨髓/胰腺综合征中的线粒体DNA缺失。
Lancet. 1989 Apr 22;1(8643):902-3. doi: 10.1016/s0140-6736(89)92897-3.

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Mitochondrial Neurodegenerative Diseases: Three Mitochondrial Ribosomal Proteins as Intermediate Stage in the Pathway That Associates Damaged Genes with Alzheimer's and Parkinson's.线粒体神经退行性疾病：三种线粒体核糖体蛋白作为受损基因与阿尔茨海默病和帕金森病相关通路中的中间阶段。
Biology (Basel). 2023 Jul 8;12(7):972. doi: 10.3390/biology12070972.
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Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.皮尔逊综合征：一种伴有骨髓衰竭的多系统线粒体疾病。
Orphanet J Rare Dis. 2022 Oct 17;17(1):379. doi: 10.1186/s13023-022-02538-9.
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Thermodynamic analysis of DNA hybridization signatures near mitochondrial DNA deletion breakpoints.
线粒体DNA缺失断点附近DNA杂交特征的热力学分析
iScience. 2021 Feb 4;24(3):102138. doi: 10.1016/j.isci.2021.102138. eCollection 2021 Mar 19.
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Mechanisms of replication and repair in mitochondrial DNA deletion formation.线粒体 DNA 缺失形成中的复制和修复机制。
Nucleic Acids Res. 2020 Nov 18;48(20):11244-11258. doi: 10.1093/nar/gkaa804.
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Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome.一名患有眼肌病的女性及其患有皮尔逊综合征的儿子存在相同的线粒体DNA缺失。
Am J Hum Genet. 2002 Sep;71(3):679-83. doi: 10.1086/342482. Epub 2002 Jul 31.
6
Clinical mitochondrial genetics.临床线粒体遗传学
J Med Genet. 1999 Jun;36(6):425-36.
7
Severe lactic acidosis and neonatal death in Pearson syndrome.皮尔逊综合征中的严重乳酸酸中毒与新生儿死亡
J Inherit Metab Dis. 1997 Mar;20(1):43-8. doi: 10.1023/a:1005305422544.
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Acute pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA tRNALeu(UUR) gene.
Eur J Pediatr. 1996 Oct;155(10):898-903. doi: 10.1007/BF02282842.
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Respiratory-chain and pyruvate metabolism defects: Italian collaborative survey on 72 patients.呼吸链与丙酮酸代谢缺陷：意大利对72例患者的协作性调查。
J Inherit Metab Dis. 1996;19(2):143-8. doi: 10.1007/BF01799415.
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Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure.新生儿期起病的肝衰竭病例中的肝脏细胞色素c氧化酶缺乏症
Eur J Pediatr. 1994 Mar;153(3):190-4. doi: 10.1007/BF01958984.